NAIC
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
biliary tract atresia
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