Progressive Familial Intrahepatic Cholestasis Among the Arab Population in Israel
| Autor: | Lucyna Bassan, Drora Berkowitz, Yehezkel Naveh, Moshe Berant, Michael Jaffe, Hanna Mandel, Eldad Rosenthal |
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| Rok vydání: | 1997 |
| Předmět: |
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medicine.medical_specialty Pathology Cirrhosis medicine.medical_treatment Intrahepatic bile ducts Cholestasis Intrahepatic Consanguinity Liver transplantation Gastroenterology Diagnosis Differential Cholestasis Internal medicine medicine Humans Family Israel business.industry Biopsy Needle Infant Newborn Progressive familial intrahepatic cholestasis Infant Jaundice medicine.disease Arabs Pedigree Liver Pediatrics Perinatology and Child Health Female medicine.symptom business Consanguineous Marriage Follow-Up Studies |
| Zdroj: | Journal of Pediatric Gastroenterology & Nutrition. 24:548-554 |
| ISSN: | 0277-2116 |
| DOI: | 10.1097/00005176-199705000-00011 |
| Popis: | 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; γ-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. |
| Databáze: | OpenAIRE |
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