Wilson Hastalığı: Tanısal Yaklaşım

Wilson hastalığı bakır transportundan sorumlu P-tipi bakır ATPaz proteinini kodlayan ATP7B geni mutasyonunun sebep olduğu otozomal resesif geçişli bir hastalıktık. Wilson hastalığında mutant-işlevsiz ATP7B geni karaciğer ve beyinde ilerleyici bakır birikimine yol açar. Klinik olarak, Wilson hastalığı fulminan hepatik yetmezlik, hemoliz, kronik karaciğer hastalığı, hepatit ve siroz gibi, hepatik tutulumun eşlik edip etmediği nöropsikiyatrik hastalıkları içeren varyasyonlar gösterir. Dış merkezde Wilson hastalığı tanısı konulan 18 yaşındaki kadın hasta genetik danışmanlık için kliniğimize sevk edildi. Gendeki mutasyon p.M1169T homozigot formda saptandı.

Wilson's Disease: Diagnostic Approach

Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by mutations in the ATP7B gene that encodes a P-type copper ATPase, ATP7B. In WD, a mutated dysfunctional ATP7B leads to a progressive accumulation of Cu in the liver and brain. Clinically, WND shows considerable phenotypic variability including fulminant hepatic failure, hemolysis, chronic liver disease, such as hepatitis and cirrhosis, and neuro-psychiatric disease with or without hepatic involvement. An 18 -year-old female patient who has the diagnosis of Wilson 's disease was referred from outside center for genetic counseling. The mutations p.M1169T was identified in the homozygous form.

Keywords:

Wilson’s disease, liver, neuropsychiatric symptoms mutations, genetic counseling,

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