Crigler-Najjar綜合征Ⅱ型伴膽囊結(jié)石1例報告及文獻復(fù)習

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[中圖分類號] R575.6 [文獻標志碼] B

ABSTRACT Crigler-Najjar syndrome （CNS） is an autosomal recessive genetic disorder caused by mutations in the UGT1A1 gene. This author retrospectively analyzes the clinical data of one patient presenting with postnatal hyperbilirubinemia，who was genetically diagnosed with CNS. Her clinical course，genetic characteristics，diagnostic and therapeutic approaches are discussed to enhance clinicians’ understanding of this condition. The patient exhibited recurrent jaundice due to elevated unconjugated bilirubin（UCB）levels since birth.During this period，the gallstones were identified and surgically removed， yether bilirubin levels did not improve.In March 2O24，the patient presented to our hospital and underwent genetic testing via a third-party facility. The results revealed two risk variants in the UGTlA1 gene.After oneweek of oral phenobarbital administration，her UCB levels decreased by approximately 47% ， confirming adiagnosis of CNS type II. The patient is currently under active follow-up with regular monitoring of bilirubin levels.For the infants and children presenting with persistent，fluctuating，non-hemolytic， and non-hepatitic hyperbilirubinemia since birth，early genetic testing should be prioritized to establish the definitive diagnosis.

KEYWORDsChild；Crigler-Najjar syndrome；Galstones；Genetic testing；Autosomal recessive genetic disorder

Crigler-Najjar綜合征（Crigler-Najjarsyndrome，CNS）是一種罕見的以非結(jié)合膽紅素（unconjugatedbilirubin，UCB）水平升高為主要臨床表現(xiàn)的常染色體隱性遺傳病，病因是因尿苷二磷酸葡萄糖醛酸轉(zhuǎn)移酶1A1（uridinediphosphate-glucuronosyl-transferaselA1，UGT1A1）導(dǎo)致尿苷二磷酸葡萄糖醛酸轉(zhuǎn)移酶（uridinediphosphateglucuronosyltransferase，UDTs）缺乏而引起肝細胞膽紅素代謝異常，臨床表現(xiàn)不同程度的黃疸等。（剩余7613字）