PMID: 9161950May 1, 1997Paper

Progressive familial intrahepatic cholestasis among the Arab population in Israel

Journal of Pediatric Gastroenterology and Nutrition
Y NavehM Berant

Abstract

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. Sixteen affected children from six Israeli Arab families were evaluated over 30 years. All were born to consanguineous parents. 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 ursod...Continue Reading

References

Jan 1, 1991·Journal of Pediatric Gastroenterology and Nutrition·G MaggioreD Alagille
Jan 1, 1985·Gastroenterology·G M AndersonD J Cohen
May 1, 1987·Seminars in Liver Disease·C A Riely
May 1, 1988·Journal of Pediatric Gastroenterology and Nutrition·P F Whitington, G L Whitington
Feb 1, 1985·Journal of Pediatric Gastroenterology and Nutrition·Y TazawaK Tada
Jul 1, 1985·Gastroenterology·J HaratakeF Okuno
Mar 1, 1968·The Tohoku Journal of Experimental Medicine·M Hirooka, T Ono
Oct 1, 1973·Archives of Disease in Childhood·M OdiévreD Alagille
Sep 1, 1972·The Journal of Pediatrics·L G LinarelliM J Phillips
Sep 1, 1972·The Journal of Pediatrics·C N WilliamsJ R Senior
Jun 1, 1966·Archives of Disease in Childhood·O P Gray, R A Saunders
Aug 1, 1981·American Journal of Clinical Pathology·N Ugarte, F Gonzalez-Crussi
Oct 1, 1981·The Journal of Pediatrics·J D Lloyd-Still
Feb 1, 1994·Journal of Pediatric Gastroenterology and Nutrition·P F WhitingtonH L Sharp
Feb 1, 1994·Journal of Pediatric Gastroenterology and Nutrition·E M AlonsoP F Whitington

❮ Previous
Next ❯

Citations

Aug 24, 1999·Journal of Hepatology·E Jacquemin, M Hadchouel
Apr 13, 1999·Gastroenterology Clinics of North America·R J Bahar, A Stolz
Jan 5, 2000·Pediatrics International : Official Journal of the Japan Pediatric Society·G DinlerF Gürakan
Oct 25, 2000·Journal of Pediatric Gastroenterology and Nutrition·E DrouinA Rasquin-Weber
Aug 2, 2002·Journal of Pediatric Gastroenterology and Nutrition·William F Balistreri
Oct 29, 2003·Journal of Pediatric Gastroenterology and Nutrition·Vered Yehezkely-SchildkrautRaanan Shamir
Sep 28, 2004·Journal of Pediatric Gastroenterology and Nutrition·Huey-Ling Chen, Mei-Hwei Chang
Aug 20, 2009·Annals of Tropical Paediatrics·T T Al-LawatiF A R Al-Lawati
Mar 11, 2015·Journal of Clinical and Experimental Hepatology·Anshu Srivastava
Jun 22, 2000·Gut·P L Jansen, M Müller
Jan 16, 1999·Baillière's Clinical Gastroenterology·J R Poley, M J Nowicki
Dec 26, 2009·Journal of Hepatology·Janneke M StapelbroekRoderick H J Houwen
Sep 18, 2018·International Journal of Surgical Pathology·Mukul VijMohamed Rela
Jan 8, 2004·Liver International : Official Journal of the International Association for the Study of the Liver·Peter L M Jansen, Ekkehard Sturm
Jun 6, 2018·European Journal of Pediatrics·Babu Lal MeenaSeema Alam
Mar 10, 2001·Clinics in Liver Disease·E Jacquemin

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of Pediatric Gastroenterology and Nutrition
Peter F WhitingtonH L Sharp
Proceedings of the National Academy of Sciences of the United States of America
J M de VreeM Hadchouel
Hepatology : Official Journal of the American Association for the Study of Liver Diseases
E JacqueminO Bernard
© 2021 Meta ULC. All rights reserved