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Cutar Wilson

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Cutar Wilson
Description (en) Fassara
Iri metal metabolism disorder (en) Fassara, copper metabolism disease (en) Fassara, organic brain syndrome (en) Fassara, rare hereditary metabolic disease with peripheral neuropathy (en) Fassara, metabolic disease with cataract (en) Fassara, metabolic disease with corneal opacity (en) Fassara, supranuclear oculomotor palsy (en) Fassara, tremor (en) Fassara, rare genetic tremor disorder (en) Fassara, rare metabolic liver disease (en) Fassara, metal transport or utilization disorder with epilepsy (en) Fassara, rare genetic epilepsy (en) Fassara, neurometabolic disease (en) Fassara, rare disorder with dystonia and other neurologic or systemic manifestation (en) Fassara
nephropathy secondary to a storage or other metabolic disease (en) Fassara
Field of study (en) Fassara endocrinology (en) Fassara
Sanadi Genetics
Symptoms and signs (en) Fassara Kumburi, Shawara, personality change (en) Fassara, blue nails (en) Fassara, face of the giant panda sign (en) Fassara
カイザー＝フライシャー輪 (mul) Fassara
Genetic association (en) Fassara ATP7B (en) Fassara
Suna saboda Samuel Alexander Kinnier Wilson (en) Fassara
Therapy (en) Fassara
Magani triethylenetetramine (en) Fassara, D-penicillamine (en) Fassara da triethylenetetramine (en) Fassara
Identifier (en) Fassara
ICD-10-CM E83.01 da E83.0
ICD-9 275.1
OMIM 277900
DiseasesDB 14152
MedlinePlus 000785
eMedicine 000785
MeSH D006527
GeneReviews NBK1512
Disease Ontology ID DOID:893

 

Wilson's disease
Other names: Wilson disease, hepatolenticular degeneration
Specialty Gastroenterology
Symptoms Swelling of the legs, yellowish skin, personality changes[1]
Usual onset Age 5 to 35[1]
Causes Genetic
Differential diagnosis Chronic liver disease, Parkinson's disease, multiple sclerosis, others[2][3]
Treatment Dietary changes, chelating agents, zinc supplements, liver transplant[1]
Frequency ~1 per 30,000[1]
  1. 1 2 3 4 Cite error: Invalid <ref> tag; no text was provided for refs named "NIH2014".
  2. ↑ Lynn, D. Joanne; Newton, Herbert B.; Rae-Grant, Alexander (2004). The 5-minute Neurology Consult (in Turanci). Lippincott Williams & Wilkins. p. 442. ISBN 9780683307238. Archived from the original on 2016-11-07.
  3. ↑ Sahani, Dushyant V.; Samir, Anthony E. (2016). Abdominal Imaging: Expert Radiology Series (in Turanci) (2 ed.). Elsevier Health Sciences. p. 400. ISBN 9780323431613. Archived from the original on 2016-11-07.

Cutar Wilson (wanda kuma ake kira hepatolenticular degeneration ) cuta ce ta kwayoyin halitta wadda ke nuna yawan tagulla a jiki. Alamomin yawanci suna da alaƙa da kwakwalwa da hanta . Alamomin da suka shafi hanta sun haɗa da amai, rauni, tarin ruwa a cikin ciki, kumburin ƙafafu, fatar da ke launin rawaya, da kuma kaikayi . Alamomin da suka shafi kwakwalwa sun haɗa da rawar jiki, taurin tsoka, wahalar magana, canje-canje a halayen mutum, damuwa, da kuma tabin hankali . [1]

Cutar Wilson tana faruwa a cikin kusan mutum ɗaya cikin 30,000. [1] Alamomin yawanci suna farawa ne tsakanin shekaru 5 zuwa 35. [1] An fara bayyana ta a shekarar 1854 ta ƙwararren masanin cututtuka na Jamus Friedrich Theodor von Frerichs kuma an sanya mata suna ne bayan likitan kwakwalwa na Burtaniya Samuel Wilson . [2]

Cutar Wilson tana faruwa ne sakamakon maye gurbi a cikin kwayar halittar furotin na cutar Wilson ( ATP7B ). Wannan furotin yana jigilar jan ƙarfe mai yawa zuwa bile, inda ake fitar da shi a cikin sharar gida. Yanayin yana da autosomal recessive ; domin mutane su kamu da cutar, dole ne su gaji kwafin kwayar halittar da aka canza daga iyaye biyu. Gano cutar na iya zama da wahala kuma sau da yawa ya ƙunshi haɗakar gwaje-gwajen jini, gwaje-gwajen fitsari, da kuma nazarin hanta . Ana iya amfani da gwajin kwayoyin halitta don tantance dangin waɗanda abin ya shafa. [1]

Yawanci ana magance cutar Wilson da canje-canje a abinci da magunguna. Canje-canje a abinci sun haɗa da cin abinci mai ƙarancin jan ƙarfe da rashin amfani da kayan girki na jan ƙarfe. Magungunan da ake amfani da su sun haɗa da magungunan chelating, kamar trientine da <small id="mwUw">D</small> -penicillamine, da kuma ƙarin zinc . Matsalolin cutar Wilson na iya haɗawa da gazawar hanta da matsalolin koda . Dashen hanta na iya zama da amfani ga waɗanda wasu magunguna ba su da tasiri a gare su ko kuma idan gazawar hanta ta faru. [1]

Alamomi da Alamomi

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Manyan wuraren da jan ƙarfe ke taruwa su ne hanta da kwakwalwa . Saboda haka, cututtukan hanta da alamun cututtukan kwakwalwa su ne manyan abubuwan da ke haifar da ganewar asali. [1] Mutanen da ke da matsalolin hanta galibi suna zuwa neman kulawar likita da wuri (galibi a lokacin yara ko matasa) fiye da waɗanda ke da alamun jijiyoyi da tabin hankali, waɗanda galibi suna cikin shekarunsu na 20 ko sama da haka. Wasu ana gano su ne kawai saboda an gano danginsu suna da cutar Wilson; da yawa daga cikinsu, idan aka gwada su, sun bayyana cewa suna fuskantar alamun cutar amma ba a gano su ba. [2]

Cutar hanta

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Cutar hanta na iya bayyana kanta a matsayin gajiya, jaundice, ƙaruwar zubar jini ko ruɗani (saboda cutar hanta ), da kuma hauhawar jini a portal . [3] Na ƙarshe, yanayi wanda matsin lamba a cikin jijiyar portal ya ƙaru sosai, yana haifar da canje-canje a cikin esophagus da kuma splenomegaly da ascites . Idan aka yi bincike, ana iya ganin alamun cututtukan hanta na yau da kullun kamar gizo-gizo angiomata (ƙananan jijiyoyin jini, galibi a kan ƙirji). Hepatitis mai aiki na yau da kullun ya riga ya haifar da cirrhosis na hanta a yawancin marasa lafiya lokacin da suka fara bayyanar cututtuka. Duk da cewa yawancin mutanen da ke fama da cirrhosis suna da haɗarin kamuwa da cutar kansar hanta (ciwon hanta), wannan haɗarin yana da ƙarancin yawa a cikin cutar Wilson. [4]

Kimanin kashi 5% na dukkan mutane ana gano su ne kawai lokacin da suka kamu da matsalar hanta mai tsanani, sau da yawa a cikin mahallin cutar anemia ta hemolytic (rashin jini saboda lalacewar ƙwayoyin jinin ja). Wannan yana haifar da rashin daidaituwa a cikin samar da furotin (wanda aka gano ta hanyar rashin daidaituwar coagulation ) da metabolism ta hanta. Tsarin metabolism na furotin da ya lalace yana haifar da tarin abubuwan sharar gida, kamar ammonia, a cikin jini. Lokacin da waɗannan ke fusata kwakwalwa, marasa lafiya suna kamuwa da cutar hanta - wani mummunan yanayi wanda ke haifar da rudani, suma, farfadiya, kuma, a ƙarshe, kumburin kwakwalwa mai barazana ga rayuwa). [4]

Alamomin tabin hankali

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Yarinya mai fama da cutar Wilson

Kimanin rabin mutanen da ke fama da cutar Wilson suna da alamun jijiyoyi ko tabin hankali. Yawancinsu da farko suna da ɗan lalacewar fahimta da rashin nutsuwa, da kuma canje-canje a cikin hali. Alamomin jijiyoyi na musamman galibi suna biyo baya, sau da yawa a cikin nau'in parkinsonism (ƙarfin bugun lead ko cogwheel, bradykinesia, da rashin kwanciyar hankali a bayan jiki [5] ) tare da ko ba tare da rawar jiki ta hannu ba, fuskokin fuska da aka rufe, magana mara kyau, ataxia (rashin daidaituwa), ko dystonia (juya da maimaita motsi na wani ɓangare na jiki). Karyewa da migraine sun fi yawa a cikin cutar Wilson. [4] Ana samun rawar jiki ta musamman da aka bayyana a matsayin "girgizar bugun fikafikai" a cikin mutane da yawa da ke fama da cutar Wilson; wannan ba ya nan a lokacin hutawa amma ana iya haifar da shi ta hanyar sace hannun da kuma lanƙwasa gwiwar hannu zuwa tsakiyar layi.

Fahimta na iya shafar cutar Wilson, a cikin rukunoni biyu marasa alaƙa da juna: matsalar lobe na gaba (na iya kasancewa a matsayin rashin himma, rashin yanke hukunci, rashin sha'awa, rashin kulawa, da rashin aikin zartarwa tare da rashin kyakkyawan tsari da yanke shawara) da kuma cutar hauka ta subcortical (na iya kasancewa a matsayin tunani a hankali, rashin tunawa, da rashin aikin zartarwa, ba tare da alamun aphasia, apraxia, ko agnosia ba ). Ana tsammanin waɗannan abubuwan da suka shafi fahimta suna da alaƙa kuma suna da alaƙa da bayyanar cutar ta tabin hankali. [5]

Matsalolin tabin hankali da cutar Wilson ke haifarwa na iya haɗawa da canje-canje a halaye, baƙin ciki, matsalolin damuwa, da kuma tabin hankali . [4] Alamomin tabin hankali galibi ana ganin su tare da alamomin jijiyoyi kuma ba kasafai suke bayyana kansu ba. Waɗannan alamun galibi ba a fayyace su sosai kuma wani lokacin ana iya danganta su da wasu dalilai. Saboda haka, ba kasafai ake gano cutar Wilson ba idan alamun tabin hankali kawai suka bayyana. [5]

Sauran tsarin gabobi

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Zoben launin ruwan kasa a gefen iris ( Kayser-Fleischer ring ) abu ne da ya zama ruwan dare a cikin cutar Wilson, musamman idan akwai alamun jijiyoyi.

An danganta yanayin lafiya da tarin jan ƙarfe a cikin cutar Wilson:

  • Idanu: Zoben Kayser-Fleischer (zoben KF) na iya bayyana a cikin cornea na idanu, ko dai kai tsaye ko kuma a kan gwajin fitilar da aka yanke, yayin da tarin tagulla ke samar da zobe a kusa da cornea. Wannan ya faru ne saboda kasancewar jan ƙarfe a cikin membrane na cornea na Descemet . Waɗannan zoben na iya zama ko dai launin ruwan kasa mai duhu, zinare, ko ja, faɗinsu ya kai mm 1 zuwa 3, kuma suna bayyana a cornea limbus. Ba sa faruwa a cikin duk mutanen da ke fama da cutar Wilson kuma ana iya ganin su a cikin mutanen da ke fama da cholestasis na yau da kullun. [6] [7] Cutar Wilson kuma tana da alaƙa da cataracts na sunflower da ke nuna launin ruwan kasa ko kore na capsule na gaba da na baya. Babu ɗayansu da ke haifar da asarar gani mai yawa. [4] Zoben KF yana faruwa a kusan kashi 66% na shari'o'in da aka gano (sau da yawa a cikin waɗanda ke da alamun jijiyoyi maimakon masu matsalolin hanta). [8]
  • Koda: renal tubular acidosis (Nau'i na 2), rashin daidaituwar sarrafa bicarbonate ta hanyar bututun proximal yana haifar da nephrocalcinosis (tarin calcium a cikin kodan), raunin ƙasusuwa (saboda asarar calcium da phosphate), da kuma wani lokacin aminoaciduria (rashin muhimman amino acid da ake buƙata don haɗa furotin). [4]
  • Zuciya: ciwon zuciya (rauni na tsokar zuciya) matsala ce da ba kasafai ake samu ba a cikin cutar Wilson; tana iya haifar da gazawar zuciya (tarin ruwa saboda raguwar aikin famfo) da kuma bugun zuciya (abubuwan da ke faruwa na bugun zuciya mara tsari da/ko kuma mai sauri ko jinkirin bugawa). [4]
  • Hormones: hypoparathyroidism (gazawar glandar parathyroid wanda ke haifar da ƙarancin sinadarin calcium), panhypopituitarism (wanda ke haifar da raguwar samar da hormones daga glandar pituitary), rashin haihuwa, da kuma sake zubar da ciki . [4] [9]
  • Ƙwayoyin tsoka: Ciwon gaɓɓai da kuma rage ƙashi ( osteopenia ko osteoporosis ). [10]
  • Yatsun Yatsu: Farace mai launin shuɗi, ko kuma a hukumance Azure Lunula, ana ganinta a matsayin launin shuɗi wanda ke shuɗewa kusa da shi.

Halittar Halitta

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Cutar Wilson tana da tsarin gado na autosomal recessive.

Page Samfuri:Sister project/styles.css has no content.Kwayar cutar Wilson ( ATP7B ) tana kan chromosome 13 (13q14.3) kuma ana bayyana ta musamman a cikin hanta, koda, da mahaifa . Kwayar halittar tana da lambar P-type (cation transport enzyme) ATPase wanda ke jigilar jan ƙarfe zuwa bile kuma yana haɗa shi zuwa ceruloplasmin . [4] Yawancin mutanen da ke da cutar Wilson - 60% - suna da homozygous don maye gurbi na ATP7B (kwafi biyu marasa kyau), kuma 30% daga cikinsu suna da kwafi ɗaya kawai mara kyau. [8] A cikin har zuwa 7% na lokuta, mutanen da ke da cutar Wilson ba su da maye gurbi da za a iya gano su. [11]

Duk da cewa an bayyana fiye da maye gurbi 500 na ATP7B, [11] ƙaramin adadin waɗannan ne ke haifar da yawancin lokuta na cutar Wilson; wanda maye gurbi da mutum zai yi ya fi dacewa da yawan jama'ar da yake ciki. Misali, a cikin al'ummar Yamma, maye gurbi na H1069Q (maye gurbin histidine da glutamine a matsayi na 1069 a cikin furotin) yana nan a cikin kashi 37%–63% na lokuta, yayin da a China wannan maye gurbi ba kasafai ake samunsa ba; R778L ( arginine zuwa leucine a 778) ana samunsa sau da yawa a can. Ba a san komai game da tasirin maye gurbi daban-daban ba, kodayake maye gurbi na H1069Q yana hasashen farkon farawa daga baya da kuma matsalolin jijiyoyi, a cewar wasu bincike. [4] [12] Cikakken tushen da aka rubuta a asibiti, WilsonGen, yana ba da rarrabuwar asibiti don bambance-bambancen kamar yadda aka tsara a cikin jagororin ACMG & AMP na baya-bayan nan. [13]

Bambancin da aka saba samu a cikin kwayar halittar PRNP na iya canza yanayin cutar ta hanyar jinkirta shekarun farawa da kuma shafar nau'in alamun da ke tasowa. Wannan kwayar halittar tana samar da furotin prion, wanda ke aiki a cikin kwakwalwa da sauran kyallen takarda kuma da alama yana da hannu wajen jigilar jan ƙarfe. [14] Da farko an yi zargin cewa akwai wani muhimmin rawa ga kwayar halittar ApoE, amma ba a iya tabbatar da hakan ba. [12]

Ana gadon wannan yanayin ne a cikin tsarin autosomal recessive. Domin a gada shi, dole ne dukkan iyayen mutum su ɗauki kwayar halittar da ta shafa. Yawancin mutanen da ke fama da cutar Wilson ba su da tarihin iyali na wannan yanayin. [12] Mutanen da ke da kwayar halitta ɗaya tilo da ba ta dace ba ana kiransu masu ɗauke da kwayar halitta (heterozygotes) kuma suna iya samun ƙananan matsaloli, amma marasa mahimmanci a fannin lafiya, na metabolism na jan ƙarfe. [10]

Akwai cututtuka da dama da suka shafi gado waɗanda ke haifar da yawan jan ƙarfe a cikin hanta; cutar Wilson ita ce mafi yawansu. Duk suna iya haifar da cirrhosis tun suna ƙanana. Sauran cututtukan da suka shafi jan ƙarfe sune cirrhosis na yara na Indiya (ICC), cirrhosis na yara na Tyrolean, da kuma gubar jan ƙarfe na idiopathic. Waɗannan ukun, ba kamar cutar Wilson ba, ba su da alaƙa da maye gurbi na ATP7B ; misali, an danganta ICC da maye gurbi a cikin kwayoyin halittar KRT8 da KRT18 . [12]

Ilimin Halittar Jiki

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Sha da rarrabawar jan ƙarfe ta al'ada: Cu = jan ƙarfe, CP = ceruloplasmin, kore = ATP7B ɗauke da jan ƙarfe

Jiki yana buƙatar jan ƙarfe don ayyuka da yawa, galibi a matsayin mai haɗa sinadarai ga wasu enzymes kamar ceruloplasmin, cytochrome c oxidase, dopamine β-hydroxylase, superoxide dismutase, da tyrosinase . [12]

Tagulla tana shiga jiki ta hanyar narkewar abinci . Wani furotin mai jigilar kaya a kan ƙwayoyin ƙaramin hanji, mai jigilar membrane na jan ƙarfe 1 (Ctr1; SLC31A1), yana ɗauke da jan ƙarfe a cikin ƙwayoyin, inda wasu ke ɗaure da metallothionein kuma wani ɓangare ana ɗaukarsa ta hanyar ATOX1 zuwa wani organelle da aka sani da hanyar sadarwa ta trans-Golgi . A nan, saboda ƙaruwar yawan jan ƙarfe, wani enzyme da ake kira ATP7A (protein na Menkes) yana sakin jan ƙarfe zuwa cikin jijiyar portal zuwa hanta. Kwayoyin hanta kuma suna ɗauke da furotin CMT1, kuma metallothionein da ATOX1 suna ɗaure shi a cikin tantanin halitta, amma a nan, ATP7B yana haɗa jan ƙarfe da ceruloplasmin kuma yana sakinsa zuwa cikin jini, da kuma cire jan ƙarfe mai yawa ta hanyar fitar da shi zuwa cikin bile. Duk ayyukan ATP7B suna da rauni a cikin cutar Wilson. Tagulla yana taruwa a cikin kyallen hanta; har yanzu ana fitar da ceruloplasmin, amma a cikin wani nau'i wanda ba shi da jan ƙarfe (wanda ake kira apo-ceruloplasmin) kuma yana raguwa cikin sauri a cikin jini. [12]

Idan adadin jan ƙarfe a cikin hanta ya mamaye sunadaran da suka saba ɗaure shi, yana haifar da lalacewar oxidative ga hanta ta hanyar wani tsari da aka sani da Fenton chemistry ; wannan lalacewar daga ƙarshe yana haifar da hepatitis mai aiki na yau da kullun, fibrosis (zubar da kyallen haɗin gwiwa), da cirrhosis . Hanta kuma tana sakin jan ƙarfe cikin jini wanda ba ya ɗaure da ceruloplasmin. Wannan jan ƙarfe kyauta yana kwarara a cikin jiki, amma musamman a cikin koda, idanu, da kwakwalwa. A cikin kwakwalwa, yawancin jan ƙarfe yana cikin basal ganglia, musamman a cikin putamen da globus pallidus (wanda aka haɗa tare da lenticular nucleus ); waɗannan yankuna galibi suna shiga cikin daidaita motsi kuma suna taka muhimmiyar rawa a cikin hanyoyin neurocognitive kamar sarrafa abubuwan ƙarfafawa da daidaita yanayi. Lalacewar waɗannan yankuna, kuma ta hanyar ilimin kimiyyar Fenton, yana haifar da alamun cututtukan kwakwalwa da ake gani a cikin cutar Wilson. [12]

Ba a fayyace dalilin da ya sa cutar Wilson ke haifar da hemolysis ba, amma shaidu daban-daban sun nuna cewa babban matakin jan ƙarfe mara lahani (wanda ba ya ɗaure da ceruloplasmin) na iya shafar iskar oxygen na haemoglobin kai tsaye, ko kuma hana enzymes masu samar da makamashi a cikin ƙwayoyin jinin ja, ko kuma haifar da lalacewar membranes na ƙwayoyin halitta kai tsaye.

Ganewar Ganewa

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Wurin da basal ganglia yake, ɓangaren kwakwalwa da cutar Wilson ta shafa

Ana iya zargin cutar Wilson bisa ga kowace alama da aka ambata a sama, ko kuma lokacin da aka gano wani dangi na kusa yana da Wilson's. Yawancinsu suna da gwaje-gwajen aikin hanta marasa kyau kamar ƙaruwar aspartate transaminase, alanine transaminase, da bilirubin . Matakan alkaline phosphatase suna da ƙarancin yawa a cikin waɗanda ke da gazawar hanta mai tsanani da ke da alaƙa da Wilson's. [15] Idan lalacewar hanta tana da mahimmanci, albumin na iya raguwa saboda rashin iyawar ƙwayoyin hanta da suka lalace don samar da wannan furotin; haka nan, lokacin prothrombin (gwajin coagulation ) na iya tsawaita saboda hanta ba ta iya samar da sunadarai da aka sani da abubuwan clotting. [4] Idan aka ga alamun jijiyoyi, ana yin hoton maganadisu na kwakwalwa yawanci; wannan yana nuna ƙaruwar ƙarfi a ɓangaren kwakwalwa da ake kira basal ganglia a cikin saitin T2 . [10] MRI kuma na iya nuna halayyar "fuskar babban panda" . [16] Sau da yawa ana jinkirta ganewar asali, tare da matsakaicin lokaci daga farkon alamun cutar zuwa ga ganewar asali na kimanin shekaru 2, kodayake wannan jinkirin na iya kasancewa daga gane nan take zuwa shekaru 30, wani ɓangare saboda bambancin gabatarwa da buƙatar gwaje-gwaje na musamman da yawa. [8] [17]

Ba a san wani gwaji mai inganci game da cutar Wilson ba, amma matakan ceruloplasmin da jan ƙarfe a cikin jini, da kuma adadin jan ƙarfe da aka fitar a cikin fitsari a cikin awanni 24, ana amfani da su tare don samar da hoton adadin jan ƙarfe a cikin jiki. Gwaji mafi daidaito shine gwajin hanta . [4]

Ceruloplasmin

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Ceruloplasmin

Matakan ceruloplasmin ba su da yawa sosai (<0.2) g/L) a cikin kashi 80–95% na lokuta. [4] Yana iya kasancewa a matakan al'ada, kodayake, a cikin mutanen da ke fama da kumburi mai ci gaba, saboda furotin ne mai saurin kamuwa da cuta . Ana kuma samun ƙarancin ceruloplasmin a cikin cutar Menkes da aceruloplasminemia, waɗanda ke da alaƙa da, amma sun fi wuya fiye da cutar Wilson. [4] [10] Haɗin alamomin jijiyoyi, alamun ido, da ƙarancin matakin ceruloplasmin ana ɗaukarsa ya isa don gano cutar Wilson. A lokuta da yawa, duk da haka, ana buƙatar ƙarin gwaje-gwaje. [10]

Jini da fitsari jan ƙarfe

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Tagulla a cikin jini yana da ƙasa, wanda zai iya zama kamar abin mamaki idan aka yi la'akari da cewa cutar Wilson cuta ce ta yawan jan ƙarfe. Duk da haka, kashi 95% na jan ƙarfe a cikin jini yana ɗauke da ceruloplasmin, wanda galibi yana da ƙasa a cikin cutar Wilson. Tagulla a cikin fitsari yana ƙaruwa a cikin cutar Wilson kuma ana tattara shi na tsawon awanni 24 a cikin kwalba tare da layin da ba shi da jan ƙarfe. Matakan da suka wuce 100 μg/awa 24 (1.6) μmol/awa 24) sun tabbatar da cutar Wilson, kuma matakan da suka wuce 40 μg/awa 24 (0.6) μmol/24h) suna da matuƙar nuna alama. [4] Yawan matakan jan ƙarfe na fitsari ba na musamman bane ga cutar Wilson; wani lokacin ana lura da su a cikin cututtukan hepatitis na autoimmune da kuma a cikin cholestasis (duk wata cuta da ke toshe kwararar bile daga hanta zuwa ƙaramin hanji). [10]

A cikin yara, ana iya amfani da gwajin penicillamine mai zuwa: a 500 Ana ba da maganin penicillamine mg ta baki, sannan a tattara dukkan fitsari na tsawon awanni 24. Idan fitsarin yini ya ƙunshi fiye da 1600 μg (25) μmol) na jan ƙarfe, alama ce mai inganci ta cutar Wilson. Ba a tabbatar da wannan gwajin a cikin manya ba. [10]

Gwajin fitilar Slit-fitila

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Ana duba idanun majiyyaci ta amfani da fitilar yankewa don neman zoben Kayser-Fleischer, waɗanda ke da alaƙa sosai da cutar Wilson kuma suna faruwa ne sakamakon tagulla da aka tara a cikin cornea na ciki a cikin membrane na Descemet . [6]

Binciken ƙwayoyin cuta na hanta

[gyara sashe | gyara masomin]

Da zarar wasu bincike sun nuna cutar Wilson, gwajin da ya fi dacewa shine cire ƙaramin adadin ƙwayoyin hanta ta hanyar yin gwajin hanta. Ana tantance wannan ta hanyar microscopic don matakin steatosis da cirrhosis, kuma ana amfani da histochemistry da kimanta jan ƙarfe don auna tsananin tarin jan ƙarfe. Mataki na 250 μg na jan ƙarfe a kowace gram na busasshen ƙwayar hanta yana tabbatar da cutar Wilson. A wasu lokutan, ana samun ƙarancin matakan jan ƙarfe; a wannan yanayin, haɗakar binciken biopsy tare da duk sauran gwaje-gwaje na iya haifar da ganewar asali na Wilson. [4]

A farkon matakan cutar, biopsy yawanci yana nuna steatosis (zubar da kitse), ƙaruwar glycogen a cikin ƙwayoyin halitta, da kuma yankunan necrosis (mutuwar ƙwayoyin halitta). A cikin mafi ci gaba da cutar, canje-canjen da aka lura suna kama da waɗanda ake gani a cikin cutar hepatitis ta autoimmune, kamar shigar ƙwayoyin kumburi, ƙwayoyin cuta masu kama da juna, da fibrosis (tabon kyallen takarda). A cikin ci gaba da cutar, a ƙarshe, cirrhosis shine babban abin da aka gano. A cikin mummunan gazawar hanta, lalacewar ƙwayoyin hanta da rugujewar tsarin kyallen hanta ana ganin su, yawanci akan asalin canje-canje na cirrhotic. Hanyoyin histochemical don gano jan ƙarfe ba su da daidaito kuma ba su da tabbas, kuma ana ɗaukar su kaɗai a matsayin waɗanda ba su isa ba don kafa ganewar asali. [10]

Gwajin Halittar Halitta

[gyara sashe | gyara masomin]

Ana iya yin nazarin sauye-sauyen kwayoyin halitta na ATP7B, da kuma sauran kwayoyin halitta da ke da alaƙa da tarin jan ƙarfe a cikin hanta. Da zarar an tabbatar da sauye-sauyen kwayoyin halitta, ana iya duba 'yan uwa don gano cutar a matsayin wani ɓangare na shawarwarin iyali na kwayoyin halitta na asibiti . [4] Rarraba kwayoyin halitta na yankuna da ke da alaƙa da cutar Wilson yana da mahimmanci a bi, domin wannan zai iya taimaka wa likitoci su tsara dabarun tantancewa masu dacewa. Tunda sauye-sauyen kwayoyin halitta na ATP7B sun bambanta tsakanin al'ummomi, bincike da gwajin kwayoyin halitta da aka yi a ƙasashe kamar Amurka ko Burtaniya na iya haifar da matsaloli, saboda suna da yawan jama'a masu gauraye. [18]

Magani

[gyara sashe | gyara masomin]

Abinci mai gina jiki

[gyara sashe | gyara masomin]

Gabaɗaya, ana ba da shawarar cin abinci mai ƙarancin sinadarin jan ƙarfe. Abincin da ake guje wa daga yawan jan ƙarfe a cikin cutar Wilson sun haɗa da namomin kaza, goro, cakulan, busassun 'ya'yan itace, hanta, tsaban ridi, man ridi, da kifin shellfish . [4]

Bayan jiyya ta farko ta rage matakan jan ƙarfe, likita zai iya ba da shawarar cewa za a iya cin matsakaicin adadin waɗannan abincin lafiya yayin kula da lafiya. [19] Idan ruwan famfo ya fito daga rijiya ko kuma ya ratsa bututun jan ƙarfe, ana ba da shawarar a duba matakin jan ƙarfe. [20]

Magani

[gyara sashe | gyara masomin]

Akwai magunguna na likitanci don magance cutar Wilson. Wasu suna ƙara yawan cire jan ƙarfe daga jiki, yayin da wasu kuma suna hana shan jan ƙarfe daga abinci.

Gabaɗaya, penicillamine shine magani na farko da ake amfani da shi. Wannan yana ɗaurewa da jan ƙarfe (ta hanyar chelation ) kuma yana haifar da fitar da jan ƙarfe a cikin fitsari. Saboda haka, ana iya yin sa ido kan adadin jan ƙarfe a cikin fitsari don tabbatar da an sha isasshen magani. Penicillamine ba shi da matsala; kusan kashi 20% suna fuskantar sakamako ko rikitarwa na maganin penicillamine, kamar lupus da miyagun ƙwayoyi ke haifarwa (yana haifar da ciwon haɗin gwiwa da kuraje a fata) ko myasthenia (yanayin jijiya wanda ke haifar da raunin tsoka). Ga waɗanda suka nuna alamun jijiyoyi, kusan rabin suna fuskantar tabarbarewar alamunsu. Duk da cewa ana lura da wannan lamari a wasu jiyya ga Wilson's, yawanci ana ɗaukarsa a matsayin alama don dakatar da penicillamine da fara magani na biyu. [4] [10] Waɗanda ba sa jure wa penicillamine za a iya fara amfani da trientine hydrochloride, wanda kuma yana da kaddarorin chelating. Wasu suna ba da shawarar trientine a matsayin magani na farko, amma ƙwarewa tare da penicillamine ya fi yawa. [10] Wani ƙarin sinadari da aka san yana aiki a cikin cutar Wilson, wanda Wilson Therapeutics ke gudanar da bincike a kansa, shine tetrathiomolybdate . Ana ɗaukarsa a matsayin gwaji, [10] kodayake wasu bincike sun nuna sakamako mai amfani. [4]

Da zarar duk sakamakon ya koma daidai, ana iya amfani da zinc (yawanci a cikin nau'in maganin zinc acetate da ake kira Galzin) maimakon chelators don kiyaye daidaiton matakan jan ƙarfe a jiki. Zinc yana motsa metallothionein, wani furotin a cikin ƙwayoyin hanji wanda ke ɗaure jan ƙarfe kuma yana hana sha da jigilar sa zuwa hanta. Ana ci gaba da maganin zinc sai dai idan alamun sun sake dawowa ko kuma idan fitar jan ƙarfe daga fitsari ya ƙaru. [10]

A lokuta da ba kasafai ake samun maganin da ke da tasiri a baki ba, musamman ma idan akwai cututtukan jijiyoyi masu tsanani, ana buƙatar dimercaprol (mai hana Lewisite na Burtaniya) a wasu lokutan. Ana yin wannan maganin ta hanyar jijiya (a cikin tsoka) duk bayan makonni kaɗan kuma yana da illoli marasa daɗi kamar ciwo. [21]

Mutane waɗanda ba su da alamun cutar (misali, waɗanda aka gano ta hanyar gwajin iyali ko kuma sakamakon gwajin da ba a saba gani ba) galibi ana yi musu magani, domin tarin jan ƙarfe na iya haifar da lalacewa na dogon lokaci a nan gaba. Ko waɗannan mutanen za a fi yi musu magani da penicillamine ko zinc acetate ba a fayyace ba. [10]

Jiyya na jiki da na aiki

[gyara sashe | gyara masomin]

Maganin motsa jiki da kuma aikin yi suna da amfani ga marasa lafiya da ke fama da cutar ta jijiyoyi. Maganin jan ƙarfe na iya ɗaukar har zuwa watanni shida kafin ya fara aiki, kuma waɗannan hanyoyin na iya taimakawa wajen magance ataxia, dystonia, da girgizar ƙasa, da kuma hana ci gaban kwankwancewa da ka iya tasowa daga dystonia. [22]

Dashen

[gyara sashe | gyara masomin]

Dashen hanta magani ne mai inganci ga cutar Wilson, amma ana amfani da shi ne kawai a wasu yanayi na musamman saboda haɗarin da ke tattare da aikin. Ana amfani da shi galibi ga mutanen da ke fama da gazawar hanta waɗanda ba su amsa maganin likita ba ko kuma waɗanda ke fama da cutar hanta mai tsanani. Ana guje wa dashen hanta a cikin cututtukan tabin hankali masu tsanani, waɗanda ba a nuna fa'idarsa ba. [4] [10]

Hasashen

[gyara sashe | gyara masomin]

Idan ba a yi maganinsa ba, cutar Wilson tana ƙara ta'azzara kuma daga ƙarshe tana kashe mutane. Matsaloli masu tsanani sun haɗa da cirrhosis na hanta, gazawar koda mai tsanani, da kuma tabin hankali. Ciwon daji na hanta da kuma cholangiocarcinoma na iya faruwa, amma a ƙasa da sauran cututtukan hanta na yau da kullun, kuma haɗarin yana raguwa sosai idan aka yi magani. [9] Tare da ganowa da magani da wuri, yawancin waɗanda abin ya shafa za su iya rayuwa ta al'ada kuma suna da tsawon rai kusa da na jama'a. [9] Lalacewar hanta da jijiyoyin jiki da ke faruwa kafin magani na iya inganta, amma galibi yana dindindin. [23] Haihuwa yawanci al'ada ce kuma matsalolin ciki ba sa ƙaruwa a cikin waɗanda ke da cutar Wilson da ake yi wa magani. [9]

Tarihi

[gyara sashe | gyara masomin]

Cutar tana ɗauke da sunan likitan Birtaniya Samuel Alexander Kinnier Wilson (1878–1937), wani likitan jijiyoyi wanda ya bayyana yanayin, gami da canje-canjen cututtuka a kwakwalwa da hanta, a cikin 1912. [24] Aikin Wilson ya riga ya kasance tun kafin rahotanni daga likitan jijiyoyi na Jamus Karl Westphal (a cikin 1883), wanda ya kira shi "pseudo-sclerosis"; na likitan jijiyoyi na Burtaniya William Gowers (a cikin 1888); [25] na masanin ilimin jijiyoyi na Finland Ernst Alexander Homén (a cikin 1889–1892), wanda ya lura da yanayin gado na cutar; [26] da kuma na Adolph Strümpell (a cikin 1898), wanda ya lura da cirrhosis na hanta. [25] Masanin ilimin jijiyoyi John Nathaniel Cumings ya yi alaƙa da tarin jan ƙarfe a cikin hanta da kwakwalwa a cikin 1948. [27] An lura da faruwar hemolysis a cikin 1967. [28]

A shekarar 1951, Cumings (a Ingila), da kuma likitan kwakwalwa na New Zealand Derek Denny-Brown (suna aiki a Amurka), sun ba da rahoton magani mai inganci na farko a lokaci guda, ta amfani da maganin ƙarfe na British anti-Lewisite . [29] [30] Dole ne a yi allurar wannan maganin, amma yana ɗaya daga cikin magungunan farko da ake samu a fannin ilimin jijiyoyi, wani fanni da a da ake iya lura da gano shi, amma ba shi da magunguna da za a bayar. [25] [31] An gano maganin farko na maganin chelation na baki wanda ke aiki a cutar Wilson, penicillamine, a shekarar 1956 ta likitan kwakwalwa na Burtaniya John Walshe. [32] A shekarar 1982, Walshe ya kuma gabatar da trientine, [33] kuma shi ne na farko da ya samar da tetra-thiomolybdate don amfani a asibiti. [34] Maganin zinc acetate ya fara bayyana a Netherlands, inda likitoci Schouwink da Hoogenraad suka yi amfani da shi a shekarar 1961 da kuma a shekarun 1970, bi da bi, kuma Brewer da abokan aikinsa a Jami'ar Michigan suka ƙara haɓaka shi daga baya. [21] [35]

Ƙungiyoyin bincike da dama sun fayyace tushen kwayar halittar cutar Wilson, da kuma alaƙarta da maye gurbi na ATP7B, a shekarun 1980 da 1990. [36] [37]

A wasu dabbobi

[gyara sashe | gyara masomin]

An bayyana tarin jan ƙarfe da aka gada a cikin Bedlington Terriers, [38] inda yawanci yake shafar hanta kawai. A cikin Bedlington Terriers yana faruwa ne saboda maye gurbi a cikin kwayar halittar COMMD1 (ko MURR1 ). [39] Gano waɗannan maye gurbi a cikin karnuka ya sa masu bincike suka binciki kwayoyin halittar ɗan adam da suka dace, amma ba a iya gano maye gurbi na COMMD1 a cikin mutanen da ke da yanayin tarin jan ƙarfe wanda ba na Wilson ba ne (kamar cirrhosis na yara na Indiya ). [40]

Duba kuma

[gyara sashe | gyara masomin]
  • Tagulla a cikin lafiya

Manazarta

[gyara sashe | gyara masomin]

Samfuri:Medical condition classification and resources

Hanyoyin haɗi na waje

[gyara sashe | gyara masomin]

Samfuri:Mineral metabolic pathologySamfuri:CNS diseases of the nervous systemSamfuri:Ion pump disorders

  • Wilson disease at NLM Genetics Home Reference

Samfuri:Mineral metabolic pathologySamfuri:CNS diseases of the nervous systemSamfuri:Ion pump disorders

  1. 1 2 3 4 5 "Wilson Disease". NIDDK. July 2014. Archived from the original on 2016-10-04. Retrieved 2016-11-06.
  2. ↑ "Whonamedit – dictionary of medical eponyms". www.whonamedit.com. Archived from the original on 2016-11-07. Retrieved 2016-11-06.
  3. ↑ "Wilson's disease - Symptoms and causes". Mayo Clinic (in Turanci). Retrieved 2022-10-05.
  4. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007). "Wilson's disease". Lancet. 369 (9559): 397–408. Bibcode:2007Lanc..369..397A. doi:10.1016/S0140-6736(07)60196-2. PMID 17276780. S2CID 24663871. Cite error: Invalid <ref> tag; name "Ala" defined multiple times with different content.
  5. 1 2 3 Lorincz MT (2010). "Neurologic Wilson's disease" (PDF). Annals of the New York Academy of Sciences. 1184 (1): 173–87. Bibcode:2010NYASA1184..173L. doi:10.1111/j.1749-6632.2009.05109.x. PMID 20146697. S2CID 2989668. |hdl-access= requires |hdl= (help)
  6. 1 2 Pandey, Nivedita; John, Savio (21 June 2022). "Kayser-Fleischer Ring". StatPearls. Treasure Island, Florida: StatPearls Publishing. PMID 29083643. Retrieved 30 November 2022. Cite error: Invalid <ref> tag; name "Pandey" defined multiple times with different content.
  7. ↑ Roberts, Eve A.; Schilsky, Michael L. (2008). "Diagnosis and treatment of Wilson disease: An update". Hepatology. 47 (6): 2089–2111. doi:10.1002/hep.22261. PMID 18506894.
  8. 1 2 3 Merle U, Schaefer M, Ferenci P, Stremmel W (2007). "Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study". Gut. 56 (1): 115–20. doi:10.1136/gut.2005.087262. PMC 1856673. PMID 16709660. Cite error: Invalid <ref> tag; name "Merle2007" defined multiple times with different content.
  9. 1 2 3 4 Roberts, Eve A.; Schilsky, Michael L. (7 September 2023). "Current and Emerging Issues in Wilson's Disease". New England Journal of Medicine. 389 (10): 922–938. doi:10.1056/NEJMra1903585. PMID 37672695 Check |pmid= value (help). S2CID 261581755 Check |s2cid= value (help).
  10. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 Roberts, Eve A.; Schilsky, Michael L. (2003). "A practice guideline on Wilson disease". Hepatology. 37 (6): 1475–92. doi:10.1053/jhep.2003.50252. PMID 12774027. S2CID 263620. Cite error: Invalid <ref> tag; name "Roberts2003" defined multiple times with different content.
  11. 1 2 Stattermayer, Albert; Zoller, Heinz M.; Weiss, Karl Heinz; Szalay, Ferenc; Bruha, Radan; Houwen, Roderick; Stauber, Rudolf E.; Steindl-Munda, Petra E.; Hofer, Harald; Stremmel, Wolfgang; Ferenci, Peter (October 2014). "Patients with Wilson disease without detectable ATP7B mutations: 464". Hepatology (in Turanci). 60: 427A. ISSN 0270-9139. Cite error: Invalid <ref> tag; name "Stattermayer" defined multiple times with different content.
  12. 1 2 3 4 5 6 7 de Bie P, Muller P, Wijmenga C, Klomp LW (November 2007). "Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J. Med. Genet. 44 (11): 673–88. doi:10.1136/jmg.2007.052746. PMC 2752173. PMID 17717039. Cite error: Invalid <ref> tag; name "deBie2007" defined multiple times with different content.
  13. ↑ Kumar, Mukesh; Gaharwar, Utkarsh; Paul, Sangita; Poojary, Mukta; Pandhare, Kavita; Scaria, Vinod; Bk, Binukumar (2020-06-03). "WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease". Scientific Reports (in Turanci). 10 (1): 9037. Bibcode:2020NatSR..10.9037K. doi:10.1038/s41598-020-66099-2. ISSN 2045-2322. PMC 7270127. PMID 32493955.
  14. ↑ Grubenbecher S, Stüve O, Hefter H, Korth C (2006). "Prion protein gene codon 129 modulates clinical course of neurological Wilson disease". NeuroReport. 17 (5): 549–52. doi:10.1097/01.wnr.0000209006.48105.90. PMID 16543824. S2CID 37186426.
  15. ↑ Shaver WA, Bhatt H, Combes B (1986). "Low serum alkaline phosphatase activity in Wilson's disease". Hepatology. 6 (5): 859–63. doi:10.1002/hep.1840060509. PMID 3758940. S2CID 24055787.
  16. ↑ Das SK, Ray K (September 2006). "Wilson's disease: an update". Nat Clin Pract Neurol. 2 (9): 482–93. doi:10.1038/ncpneuro0291. PMID 16932613. S2CID 205340375.
  17. ↑ Yu, Minling; Ren, Linxiang; Zheng, Muxin; Hong, Mingfan; Wei, Zhisheng (2022). "Delayed Diagnosis of Wilson's Disease Report From 179 Newly Diagnosed Cases in China". Frontiers in Neurology. 13. doi:10.3389/fneur.2022.884840. ISSN 1664-2295. PMC 9294220 Check |pmc= value (help). PMID 35865642 Check |pmid= value (help).
  18. ↑ Ferenci, Peter (2006-06-22). "Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing". Human Genetics (in Turanci). 120 (2): 151–159. doi:10.1007/s00439-006-0202-5. ISSN 0340-6717. PMID 16791614. S2CID 10124665.
  19. ↑ "Eating, Diet, & Nutrition for Wilson Disease". National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 2026-03-29.
  20. ↑ "Eating, Diet, & Nutrition for Wilson Disease". National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 2026-03-29.
  21. 1 2 Walshe JM (July 1996). "Treatment of Wilson's disease: the historical background". QJM. 89 (7): 553–55. doi:10.1093/qjmed/89.7.553. PMID 8759497.
  22. ↑ Brewer GJ, Askari FK (2005). "Wilson's disease: clinical management and therapy". Journal of Hepatology. 42 (Suppl 1): 13–21. doi:10.1016/j.jhep.2004.11.013. PMID 15777568.
  23. ↑ "Definition and Facts | NIDDK". National Institute of Diabetes and Digestive and Kidney Diseases (in Turanci). Retrieved 2019-02-01.
  24. ↑ Kinnier Wilson SA (1912). "Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver". Brain. 34 (1): 295–507. doi:10.1093/brain/34.4.295.
  25. 1 2 3 Robertson WM (February 2000). "Wilson's disease". Arch. Neurol. 57 (2): 276–77. doi:10.1001/archneur.57.2.276. PMID 10681092. Cite error: Invalid <ref> tag; name "Robertson" defined multiple times with different content.
  26. ↑ Homén EA (1892). "Eine eigenthümliche bei drei Geschwistern auftretende typische Krankheit unter der Form einer progressiven Dementia in Verbindung mit ausgedehnten Gefässveränderungen (wohl Lues hereditaria tarda)". Archiv für Psychiatrie und Nervenkrankheiten. 24: 1–38.
  27. ↑ Cumings JN (1948). "The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration". Brain. 71 (Dec): 410–15. doi:10.1093/brain/71.4.410. PMID 18124738.
  28. ↑ McIntyre N, Clink HM, Levi AJ, Cumings JN, Sherlock S (February 1967). "Hemolytic anemia in Wilson's disease". N. Engl. J. Med. 276 (8): 439–44. doi:10.1056/NEJM196702232760804. PMID 6018274.
  29. ↑ Cumings JN (March 1951). "The effects of B.A.L. in hepatolenticular degeneration". Brain. 74 (1): 10–22. doi:10.1093/brain/74.1.10. PMID 14830662.
  30. ↑ Denny-Brown D, Porter H (December 1951). "The effect of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease)". N. Engl. J. Med. 245 (24): 917–25. doi:10.1056/NEJM195112132452401. PMID 14882450.
  31. ↑ Vilensky JA, Robertson WM, Gilman S (September 2002). "Denny-Brown, Wilson's disease, and BAL (British antilewisite [2,3-dimercaptopropanol])". Neurology. 59 (6): 914–16. doi:10.1212/wnl.59.6.914. PMID 12297577.
  32. ↑ Walshe JM (January 1956). "Wilson's disease; new oral therapy". Lancet. 270 (6906): 25–26. doi:10.1016/S0140-6736(56)91859-1. PMID 13279157.
  33. ↑ Walshe JM (March 1982). "Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride". Lancet. 1 (8273): 643–47. doi:10.1016/S0140-6736(82)92201-2. PMID 6121964. S2CID 205999334.
  34. ↑ Harper PL, Walshe JM (December 1986). "Reversible pancytopenia secondary to treatment with tetrathiomolybdate". Br. J. Haematol. 64 (4): 851–53. doi:10.1111/j.1365-2141.1986.tb02250.x. PMID 3801328. S2CID 11546705.
  35. ↑ Brewer GJ (January 2000). "Recognition, diagnosis, and management of Wilson's disease". Proc. Soc. Exp. Biol. Med. 223 (1): 39–46. Bibcode:2000PSEBM.223...39B. doi:10.1046/j.1525-1373.2000.22305.x (inactive 15 April 2026). PMID 10632959. Archived from the original on 2008-04-09. Retrieved 2008-05-20.CS1 maint: DOI inactive as of ga Afirilu, 2026 (link)
  36. ↑ Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993). "The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene". Nat. Genet. 5 (4): 327–37. Bibcode:1993NaGen...5..327B. doi:10.1038/ng1293-327. PMID 8298639. S2CID 1236890.
  37. ↑ Tanzi RE, Petrukhin K, Chernov I, et al. (1993). "The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene". Nat. Genet. 5 (4): 344–50. Bibcode:1993NaGen...5..344T. doi:10.1038/ng1293-344. PMID 8298641. S2CID 610188.
  38. ↑ Sternlieb I, Twedt DC, Johnson GF, et al. (1977). "Inherited copper toxicity of the liver in Bedlington terriers". Proc. R. Soc. Med. 70 (Suppl 3): 8–9. doi:10.1177/00359157770700S305. PMC 1543595. PMID 122681.
  39. ↑ van De Sluis B, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C (2002). "Identification of a new copper metabolism gene by positional cloning in a purebred dog population". Hum. Mol. Genet. 11 (2): 165–73. doi:10.1093/hmg/11.2.165. PMID 11809725.
  40. ↑ Müller T, van de Sluis B, Zhernakova A, et al. (2003). "The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis". J. Hepatol. 38 (2): 164–68. doi:10.1016/S0168-8278(02)00356-2. PMID 12547404.
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