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Wednesday 4 June 2003

North American Indian childhood cirrhosis (CIRH1A or NAIC) is a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. NAIC is a distinct entity that could be classified as "progressive familial cholangiopathy."


- neonatal cholestatic jaundice (70%)
- hepatosplenomegaly (20%)
- portal hypertension (91%)

  • variceal bleeding (50%)

- early bile duct proliferation
- portal fibrosis
- biliary cirrhosis

Differential diagnosis

- infectious cirrhosis
- metabolic cirrhosis
- toxic cirrhosis
- autoimmune cirrhosis
- obstructive cirrhosis
- biliary tract atresia


- mutation in the cirhin gene (C1RH1A) (MIM.607456)at 16q22 (12417987)

See also

- familial cholestases
- progressive familial cholangiopathy


- Chagnon, P.; Michaud, J.; Mitchell, G.; Mercier, J.; Marion, J.-F.; Drouin, E.; Rasquin-Weber, A.; Hudson, T. J.; Richter, A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am. J. Hum. Genet. 71: 1443-1449, 2002. PubMed ID : 12417987

- Drouin E, Russo P, Tuchweber B, Mitchell G, Rasquin-Weber A. North American Indian cirrhosis in children: a review of 30 cases. J Pediatr Gastroenterol Nutr. 2000 Oct;31(4):395-404. PMID: 11045837

- Betard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet. 2000 Jul;67(1):222-8. PMID: 10820129