| 释义 |
DictionarySeesyndromeCrigler-Najjar syndrome
Crig·ler-Naj·jar syn·drome (krig'lĕr nah'jahr), [MIM*218800] a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase; characterized by familial nonhemolytic jaundice and, in its severe form, by irreversible brain damage in infancy that resembles kernicterus and may be fatal; autosomal recessive inheritance, caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (UGT1) on chromosome 1q. There is an autosomal dominant form called Gilbert syndrome, also caused by mutation in the UGT1 gene. Synonym(s): Crigler-Najjar diseaseCrigler-Najjar syndrome 1 A severe autosomal recessive form (OMIM:218800) of hyperbilirubinaemia affecting infants, who usually die with kern icterus in the first year of life.Crig·ler-Naj·jar syn·drome (krig'lĕr nah'jahr sin'drōm) A defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase; characterized by familial nonhemolytic jaundice and, in its severe form, by irreversible brain damage in infancy that resembles kernicterus and may be fatal.Crigler-Najjar syndrome Type I is a rare autosomal recessive disorder causing absence of an enzyme (glucuronyl transferase) essential for normal liver function. Affected new-born babies have high levels of BILIRUBIN in the blood with bilirubin staining of the basal ganglia of the brain. Mortality is high. Type II is a rare autosomal dominant, and much milder form of the disorder in which there is only a partial deficiency of the enzyme. Most survive. (John F. Crigler, American paediatrician, b. 1919 and Lebanese-born American molecular biologist and paediatrician Victor Assar Najjar, b. 1914).Crigler-Najjar syndromeA moderate to severe form of hereditary jaundice.Mentioned in: JaundiceCrigler, John F., U.S. physician, 1919–. Crigler-Najjar disease - Synonym(s): Crigler-Najjar syndromeCrigler-Najjar syndrome - a rare defect in ability to form bilirubin glucuronide due to deficiency of bilirubin-glucuronide glucuronosyltransferase. Synonym(s): Arias syndrome; Crigler-Najjar disease
Arias, Irwin Monroe, U.S. physician, 1926–. Arias syndrome - Synonym(s): Crigler-Najjar syndrome
Najjar, Victor A., U.S. physician and biochemist, 1914–. Crigler-Najjar disease - Synonym(s): Crigler-Najjar syndromeCrigler-Najjar syndrome - see under Crigler |