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."

Synopsis

 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

Etiology:

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

See also

 familial cholestases
 progressive familial cholangiopathy

References

 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#