Fatal familial cholestatic syndrome in Greenland Eskimo children

Acta Paediatr Scand. 1986 Nov;75(6):1010-6. doi: 10.1111/j.1651-2227.1986.tb10332.x.

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 hypoprothrombinaemia, 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.

MeSH terms

  • Celiac Disease / genetics
  • Child, Preschool
  • Cholestasis, Intrahepatic / blood
  • Cholestasis, Intrahepatic / genetics*
  • Cholestasis, Intrahepatic / mortality
  • Female
  • Greenland
  • Growth Disorders / genetics
  • Hemorrhage / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Inuit*
  • Liver / pathology
  • Male
  • Nutrition Disorders / genetics
  • Prognosis
  • Pruritus / genetics
  • Syndrome