Crigler-Najjar syndrome

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.

Jaundice

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


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PMID (PMCID)
19953640
 MALE Infant
Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome.
Aggarwal V, Seth A, Sharma S, Aneja S, Sammarco P, Fabiano C.
Pediatr Blood Cancer. 2010;54(4):627-8.
Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome.
15953334
 FEMALE Infant
Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China.
Nong SH, Xie YM, Chan KW, Cheung PT.
J Paediatr Child Health. 2005;41(5-6):300-2.
Jaundice is common in ethnic Chinese infants, but to our knowledge Crigler-Najjar syndrome (CN syndrome) type I has never been reported in China.
8012512
 MALE Middle Aged
Type II crigler-Najjar syndrome with intrahepatic cholestasis.
Kagita A, Adachi Y, Kambe A, Kamisako T, Yamamoto T.
J Gastroenterol. 1994;29(2):214-7.
After improvement of jaundice to below the pre-surgical level (4.4 mg/dl), we analyzed the duodenal bile for bilirubin fractions; those showed a marked reduction in bilirubin diglucuronide and a marked increase in bilirubin monoglucuronide, which was consistent with type II Crigler-Najjar syndrome.
1277744
 FEMALE Adult
The effect of repeated phlebotomy on bilirubin turnover, bilirubin clearance and unconjugated hyperbilirubinaemia in the Crigler-Najjar syndrome and the jaundiced Gunn rat: application of computers to experimental design.
Berk PD, Scharschmidt BF, Waggoner JG, White SC.
Clin Sci Mol Med. 1976;50(5):333-48.
Control values for four physiological variables including bilirubin turnover were determined in a 20-year-old woman with type I congenital nonhaemolytic jaundice (Crigler-Najjar syndrome).