North American Indian childhood cirrhosis
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North American Indian childhood cirrhosis (NAIC) have been described an isolated nonsyndromic form of cholestasis in Ojibway-Cree children from First Nations communities in the Abitibi region of northwestern Quebec, Canada.
The disease typically presents, in a child who is otherwise well, with transient neonatal jaundice that progresses to biliary cirrhosis requiring hepatic transplantation in childhood or early adulthood.
The biochemical and histopathologic features of the disease suggest involvement of the bile ducts rather than of the bile canaliculi.
These include elevated gamma-glutamyltransferase and alkaline phosphatase levels and, typically, marked fibrosis around portal bile ducts.
Called North American Indian childhood cirrhosis, the carrier frequency in at-risk populations was estimated to be approximately 9%.
NAIC appears to be clinically distinct from previously described nonsyndromic family cholestases (MIM.211600) because of its marked cholangiopathic features and severe degree of fibrosis on liver histology.
Etiology
North American Indian childhood cirrhosis is caused by mutation in the cirhin gene (CIRH1A) (MIM.607456).
References
Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet. 2002 Dec;71(6):1443-9. PMID: 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