Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children
ABSTRACT. A syndrome of intrahepatic cholestasis leading to death in early childhood was studied in 16 Greenland Eskimo children. The pedigrees are compatible with autosomal recessive inheritance. Jaundice, bleeding, pruritus, malnutrition, steatorrhoea, osteodystrophy and dwarfism were typical clin...
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crwiley:10.1111/j.1651-2227.1986.tb10332.x 2024-09-15T18:04:59+00:00 Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children NIELSEN, I.‐M. ØRNVOLD, K. JACOBSEN, B. BROCK RANEK, L. 1986 http://dx.doi.org/10.1111/j.1651-2227.1986.tb10332.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1986.tb10332.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1651-2227.1986.tb10332.x en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Acta Paediatrica volume 75, issue 6, page 1010-1016 ISSN 0803-5253 1651-2227 journal-article 1986 crwiley https://doi.org/10.1111/j.1651-2227.1986.tb10332.x 2024-08-06T04:21:27Z ABSTRACT. A syndrome of intrahepatic cholestasis leading to death in early childhood was studied in 16 Greenland Eskimo children. The pedigrees are compatible with autosomal recessive inheritance. Jaundice, bleeding, pruritus, malnutrition, steatorrhoea, osteodystrophy and dwarfism were typical clinical features. Eight had died between the ages of six weeks and three years due to bleeding or infections. Hyperbilirubinaemia, profound hypoprothrombin‐aemia, thrombocytosis and elevated alkaline phosphatase levels were evident. Serum calcium, phosphate and parathyroid hormone levels indicated a secondary hyperparathyroidism. Hepatic fibrosis developed with increasing age. Follow‐up of the surviving patients was 4 to 30 months. The aetiology of the disease is unknown. The syndrome has some features in common with previously described patients with familial intrahepatic cholestasis. No specific treatment is available. Genetic counselling is essential. Article in Journal/Newspaper eskimo* Greenland Wiley Online Library Acta Paediatrica 75 6 1010 1016 |
institution |
Open Polar |
collection |
Wiley Online Library |
op_collection_id |
crwiley |
language |
English |
description |
ABSTRACT. A syndrome of intrahepatic cholestasis leading to death in early childhood was studied in 16 Greenland Eskimo children. The pedigrees are compatible with autosomal recessive inheritance. Jaundice, bleeding, pruritus, malnutrition, steatorrhoea, osteodystrophy and dwarfism were typical clinical features. Eight had died between the ages of six weeks and three years due to bleeding or infections. Hyperbilirubinaemia, profound hypoprothrombin‐aemia, thrombocytosis and elevated alkaline phosphatase levels were evident. Serum calcium, phosphate and parathyroid hormone levels indicated a secondary hyperparathyroidism. Hepatic fibrosis developed with increasing age. Follow‐up of the surviving patients was 4 to 30 months. The aetiology of the disease is unknown. The syndrome has some features in common with previously described patients with familial intrahepatic cholestasis. No specific treatment is available. Genetic counselling is essential. |
format |
Article in Journal/Newspaper |
author |
NIELSEN, I.‐M. ØRNVOLD, K. JACOBSEN, B. BROCK RANEK, L. |
spellingShingle |
NIELSEN, I.‐M. ØRNVOLD, K. JACOBSEN, B. BROCK RANEK, L. Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children |
author_facet |
NIELSEN, I.‐M. ØRNVOLD, K. JACOBSEN, B. BROCK RANEK, L. |
author_sort |
NIELSEN, I.‐M. |
title |
Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children |
title_short |
Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children |
title_full |
Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children |
title_fullStr |
Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children |
title_full_unstemmed |
Fatal Familial Cholestatic Syndrome in Greenland Eskimo Children |
title_sort |
fatal familial cholestatic syndrome in greenland eskimo children |
publisher |
Wiley |
publishDate |
1986 |
url |
http://dx.doi.org/10.1111/j.1651-2227.1986.tb10332.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1986.tb10332.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1651-2227.1986.tb10332.x |
genre |
eskimo* Greenland |
genre_facet |
eskimo* Greenland |
op_source |
Acta Paediatrica volume 75, issue 6, page 1010-1016 ISSN 0803-5253 1651-2227 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/j.1651-2227.1986.tb10332.x |
container_title |
Acta Paediatrica |
container_volume |
75 |
container_issue |
6 |
container_start_page |
1010 |
op_container_end_page |
1016 |
_version_ |
1810442578809585664 |