Wilson's Disease: Diagnostic Approach

Year 2015, Volume: 40 Issue: 2, 345 - 352, 28.09.2015

Hakan Gelincik Ayşe Koç

https://doi.org/10.17826/cutf.39582

Abstract

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

Wilson Hastalığı: Tanısal Yaklaşım

Abstract

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.

Keywords

Wilson hastalığı, karaciğer, nöropsikiyatrik bulgular, mutasyon, genetik danışmanlık

References

• Rosencrantz R, Schilsky M. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin Liver Dis. 2011;31:245-59.
• Weitzman E, Pappo O, Weiss P, Frydman M, Haviv- Yadid Y, Ben Ari Z. Late onset fulminant Wilson's disease: A case report and review of the literature. World J Gastroenterol. 2014;20:17656-60.
• Compston A. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295-509.
• Bennett J, Hahn SH. Clinical molecular diagnosis of Wilson disease. Seminars in Liver Disease. 2011;31:233-8.
• Hanağası F, H Hanağası. Wilson hastalığı. Türk Nöroloji Derneği Turkish Journal of Neurology. 2013;19:122-27.
• Roberts EA, Schilsky ML. Diagnosis and Treatment of Wilson Disease:An Update. Hepatology. 2008;47:2089-111.
• Reilly M, Daly L, Hutchinson M. An epidemiological study of Wilson’s disease in the Republic of Ireland. Journal of Neurology Neurosurgery and Psychiatry. 1993;56:298-300.
• Mİller LB, Horn1 N, Jeppesen DY, Vissing J, Wibrand F, Jennum P, Peter O. Clinical presentation and mutations in Danish patients with Wilson disease. European Journal of Human Genetics. 2011;19:935–41.
• Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genetics. 1993;5:327-37. 2 Yok 0.8-4 µmol/g 1