PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (BYLERS DISEASE) IN ARAB CHILDREN

被引：20

作者：

KAGALWALLA, AF ^{[1
]}

ALAMIR, AR ^{[1
]}

KHALIFA, A ^{[1
]}

SYLVEN, M ^{[1
]}

ALAJAJI, S ^{[1
]}

KAGALWALLA, YA ^{[1
]}

机构：

[1] KING FAHAD NATL GUARD HOSP,DEPT PEDIAT,RIYADH,SAUDI ARABIA

来源：

ANNALS OF TROPICAL PAEDIATRICS | 1995年 / 15卷 / 04期

关键词：

D O I：

10.1080/02724936.1995.11747792

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The clinical, biochemical and histological characteristics in six Arab children with progressive familial intrahepatic cholestasis (PFIC) (Byler's disease) are described. The autosomal recessive mode of inheritance is established. Jaundice and pruritus were early symptoms, with onset in the Ist 3 months in all patients. Other features included growth failure, developmental delay, ataxia, areflexia, gall-stones and epistaxis. Gamma-glutamyl-transpeptidase and cholesterol were normal, but total bile acid levels were uniformly elevated in all patients. Histology showed features of hepato-canalicular cholestasis, lack of bile duct proliferation and fibrosis or cirrhosis in all patients. Five patients who were followed up were alive at a mean age of 75.8 months.

引用

页码：321 / 327

页数：7