Güldütuna S, Langenbeck U, Bock K W, Sieg A, Leuschner U
Abt. für Gastroenterologie, Johann Wolfgang Goethe-Universität, Frankfurt/M, Germany.
Dig Dis Sci. 1995 Jan;40(1):28-32. doi: 10.1007/BF02063937.
The inheritance of Crigler-Najjar syndrome type II (CNS II) is still unclear. Both autosomal dominant transmission with variable penetrance and autosomal recessive transmission have been reported. We describe the diagnosis of CNS II in an adult patient with unconjugated serum bilirubin levels up to 19.6 mg/dl and no detectable activity of bilirubin UDP-glucuronosyltransferase in the liver biopsy. Serum bilirubin levels decreased markedly on phenobarbital treatment. The parents of our patient are first cousins. The mother and three of the patient's five sibs were jaundiced within a few days of birth. Our patient and her jaundiced siblings have 11 children, all healthy and anicteric. We conclude from these data that the inheritance of this very rare disease follows an autosomal recessive pattern, with pseudodominance in this family.
II型克里格勒-纳贾尔综合征（CNS II）的遗传方式仍不明确。既有关于常染色体显性遗传伴可变外显率的报道，也有常染色体隐性遗传的报道。我们描述了一例成年CNS II患者的诊断情况，该患者血清非结合胆红素水平高达19.6mg/dl，肝活检中未检测到胆红素UDP-葡萄糖醛酸基转移酶活性。经苯巴比妥治疗后，血清胆红素水平显著下降。该患者的父母是近亲。患者的母亲以及其五个兄弟姐妹中的三个在出生后几天内出现黄疸。我们的患者及其黄疸型兄弟姐妹育有11个孩子，均健康且无黄疸。基于这些数据，我们得出结论，这种极为罕见的疾病遵循常染色体隐性遗传模式，在这个家族中存在假显性现象。
