:J Pediatr Gastroenterol Nutr 1997 May;24(5):548-54

Progressive familial intrahepatic cholestasis among the Arab population in Israel

Naveh Y, Bassan L, Rosenthal E, Berkowitz D, Jaffe M, Mandel H, Berant M
Abstract
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.

Abstract
BACKGROUND: Progressive familial intrahepatic cholestasis, which constitutes a
heterogeneous group of imperfectly delineated syndromes and appears to be
inherited as an autosomal recessive condition, has not been hitherto reported
from the Middle East, in spite of the high rate of consanguineous marriage in
this region. METHODS: Sixteen affected children from six Israeli Arab families
were evaluated over 30 years. All were born to consanguineous parents. RESULTS:
Jaundice appeared during the first 3 weeks of life in 15 babies. When first
referred, 10 had hepatomegaly and nine had splenomegaly. A progression toward
cirrhosis was the rule. Serum levels of conjugated bilirubin, liver enzymes, and
alkaline phosphatase were raised; gamma-glutamyl transpeptidase levels were
normal in all three infants in whom it was examined, but elevated in two
siblings of another family at ages 2 and 3 years. No abnormal bile acids were
detected in the serum and urine of patients. Histologic examination of the liver
showed giant-cell transformation, paucity of intrahepatic bile ducts,
cholestasis, fibrosis, or cirrhosis. The pattern of liver pathology differed at
times among affected members within the same family. Therapeutic trials with
phenobarbital, cholestyramine, or ursodeoxycholic acid were ineffective.
Survival of the patients was from 5 to 18 months in four families; in the other
two families, three children received liver transplants, and one is awaiting
liver transplantation. CONCLUSIONS: Progressive familial intrahepatic
cholestasis should be included in the differential diagnosis of infants with
cholestatic jaundice of unknown etiology, especially those born to
consanguineous Arab parents