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Phenotypes and Chronic Organ Damage May Be Different among Siblings with Wilson's Disease

Journal of Clinical and Translational Hepatology 2017年第1期5卷 27-30页

作者： shinsuke yahata Seitetsu Yung Mari Mandai Takakazu Nagahara Daisaku Kuzume Hiroshi Sakaeda Shinya Wakusawa Ayako Kato Yasuaki Tatsumi Koichi Kato Hisao Hayashi Ryohei Isaji Yoji Sasaki Motoyoshi Yano Kazuhiko Hayashi Masatoshi Ishigami Hidemi Goto Division of Community Medicine and Career Development Kobe University Graduate School of Medicine2-1-5Arata-choHyogo-kuKobe 652-0032Japan Department of Gastroenterology Hyogo Prefectural Kakogawa Medical CenterKakogawaHyogoJapan Department of Gastroenterology and Hepatology Tottori Prefectural Kousei HospitalKurayoshiTottoriJapan Departments of Neurology and Gastroenterology Chikamori HospitalKochiJapan Medical Laboratory Sciences Nagoya University Graduate School of MedicineHigashi-kuNagoyaJapan Department of Medicine Aichi Gakuin University School of PharmacyChikusa-kuNagoyaJapan Department of Gastroenterology Konan Kosei HospitalTakaya-choKonanAichiJapan Department of Gastroenterology Yokkaichi Municipal HospitalYokkaichiMieJapan Department of Gastroenterology and Hepatology Nagoya University Graduate School of MedicineShowa-kuNagoyaJapan

Background and Aims:Cloning of ATP7B provided evidence that Wilson's disease is a hepatic copper toxicosis with a variety of extrahepatic *** siblings with the same genetic background and exposure to similar environmental factors may be a good model for the study of genotype-phenotype ***:Twenty-three affected siblings in 11 families were selected from a *** first phenotypes were determined according to the international *** final types of chronic organ damage were re-evaluated for life-long ***:Phenotypes were identical in 5 of the families and different in 6 of the *** acute hepatic phenotype H1 was found in 3 younger siblings and 1 older *** survived an acute episode of hemolysis with underlying chronic liver *** also presented complication with neurological *** neurological phenotype N1 with neuropsychiatric symptoms and hepatic disease was found in 2 aged siblings of 1 family,in an older sibling in 3 families and in the oldest sibling in 1 *** in siblings were mainly split by either H1 occurring in random order or age-dependent *** of chronic organ damage were identical in 8 of the families and different in 3 of the *** same combination of chronic liver disease was found in 6 families and chronic liver disease complicated with neurological disease in 2 *** organ damage in siblings was found when an older sibling was complicated by neurological *** was no reverse combination of a younger sibling being complicated by neurological disease in any of the ***:Phenotype combinations of siblings were mainly modified by externally-induced hemolytic episodes,while chronic organ damage in siblings was split by age-dependent neurological complications.

关键词： Hemolysis Liver disease Neurological disease Wilson's disease

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Acute Hepatic Phenotype of Wilson Disease: Clinical Features of Acute Episodes and Chronic Lesions Remaining in Survivors

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Journal of Clinical and Translational Hepatology 2015年第4期3卷 239-245页

作者： Hisao Hayashi Yasuaki Tatsumi shinsuke yahata Hiroki Havashi Kenji Nomose Ryohei Isaji Youji Sasaki Department of Medicine Aichi-Gakuin University School of PharmacyNagoyaJapan Department of Gastroenterology Hyogo Prefectural Kakogawa Medical CenterKakogawaJapan Department of Gastroenterology Kita-Harima Medical CenterOnoJapan Department of Gastroenterology Kobe University School of MedicineKobeJapan Department of Gastroenterology Konan Kosei HospitalKonanJapan

Background and Aims:Wilson disease(WD)is an inherited disorder of copper metabolism,and an international group for the study of WD(IGSW)has proposed three phenotypes for its initial presentation:acute hepatic,chronic hepatic,and neurologic *** of the acute hepatic phenotype may improve our understanding of the ***:Clinical features of 10 WD patients with the acute hepatic phenotype and characteristics of chronic lesions remaining in survivors were assessed by the European Association for the Study of the Liver(EASL)***:All six patients younger than 30 years had survived an acute episode of hemolytic anemia with residual liver disease of cirrhosis or chronic *** acute episode was self-limiting in two of the four patients over the age of 30 years and progressed to acute liver failure in the other two *** of the two survivors had residual liver disease of chronic hepatitis,while the other had chronic hepatitis and neurologic *** disease remained in a patient who successfully received a liver *** acute episodes,serum levels of aspartate aminotransferase(AST)and alanine aminotransferase(ALT)changed rapidly along with ***-specific ALT levels were age-dependently correlated with hemoglobin(Hb)*** reduction was milder for AST than ALT which resulted in a high AST/ALT ratio in the anemic *** anemic stage in two patients transformed to acute liver ***:All survivors of an acute episode of the acute hepatic phenotype had residual liver disease or both liver and neurologic *** rapid changes in liver enzymes during the acute episode and the liver and neurologic diseases remaining in survivors may provide a better understanding of WD.

关键词： Aminotransferase Neurologic disease Liver disease Hemoglobin

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