Fatty liver in H63D homozygotes with hyperferritinemia  

作　　者：Giada Sebastiani Daniel F Wallace Susan E Davies Vasu Kulhalli Ann P Walker James S Dooley 

机构地区：[1]Department of Medicine Royal Free and University College Medical School,Royal Free Campus,University College London,London,United Kingdom [2]Department of Medicine Royal Free and University College Medical School,Royal Free Campus,University College London,London,United Kingdom and The Membrane Transport Laboratory,Queensland Institute of Medical Research,Brisbane,Queensland,Australia [3]Department of Histopathology Royal Free and University College Medical School,Royal Free Campus,University College London,London,United Kingdom [4]Department of Gastroenterology Newham General Hospital,London,United Kingdom

出　　处：《World Journal of Gastroenterology》2006年第11期1788-1792,共5页世界胃肠病学杂志（英文版）

基　　金：Supported by the European Commission Fifth Framework Programme Grant No. QLK6-CT-1999-02237. GS was supported by a Clinical Fellowship from the European Commission (Leonardo da Vinci Grant I/99/2/09209/PL/II. 1.2.a/FPI)

摘　　要：To study the clinical correlates of the H63D mu-tation we have analysed the phenotype of H63D homozygotes identified through mutation analysis in a referral laboratory. A total of 366 blood samples referred for lIFE analysis were screened for C282Y and H63D mutations. Four H63D homozygotes were identified. All had raised serum ferritin but normal transferrin saturation. They were negative for hepatitis B and C and only one patient consumed excess alcohol. In all 4 cases ultrasonography revealed fatty liver. In two patients a liver biopsy was done and showed mild siderosis with an unusual distribution and macrovesicular steatosis. These data confirm the association between fatty liver, hyperferritinaemia and increased hepatic iron, but do not clarify whether siderosis was related to steatosis rather than homozygosity for the H63D mutation. Patients with fatty liver may complicate the interpretation of data in population studies of the expression of H63D homozygosity.为了学习 H63D 变化的临床的相互关联，我们分析了在一个工作分派实验室通过变化分析识别的 H63D 同质接合体的显型。样品为 HFE 分析提交了的 366 血的一个总数为 C282Y 和 H63D 变化被屏蔽。四 H63D 同质接合体被识别。所有提起了浆液含铁锡但是正常转铁蛋白浸透。他们为肝炎 B 和 C 是否定的，仅仅一个病人消费了过量酒精。在所有 4 个盒子中， ultrasonography 揭示了脂肝。在二个病人，肝活体检视与不平常的分布和宏被做并且出现温和铁质沉着病小囊的脂肪变性。这些数据证实在脂肝， hyperferritinaemia 和增加的肝的铁之间的协会，但是不澄清铁质沉着病是否为 H63D 变化与脂肪变性而非纯合性有关。有脂肝的病人可以在 H63D 纯合性的表达式的人口研究复杂化数据的解释。

关 键 词：HYPERFERRITINEMIA HFE gene H63D homozygosity Fatty liver 

分 类 号：R575.5[医药卫生—消化系统]