{"title":"罕见的Crigler-Najjar综合征2例。","authors":"Anil Kumar Shrestha, Sangay Chultim Sherpa, Asmita Karki, Sumit Agrawal, Deepak Raj Paudel","doi":"10.33314/jnhrc.v23i01.5352","DOIUrl":null,"url":null,"abstract":"<p><p>Crigler-Najjar Syndrome Type 2 (CNS2) is a rare autosomal recessive disorder characterized by unconjugated hyperbilirubinemia due to partial deficiency of the enzyme uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1). We present a case of a 13-month-old male admitted to Kanti Children's Hospital with persistent jaundice since birth. Diagnostic evaluation accompanied by gene sequencing confirmed CNS2 and the patient was effectively managed with orally administered phenobarbitone. CNS2 can be distinguished from other potential causes of unconjugated hyperbilirubinemia based on bilirubin concentration and the affected patient's response to phenobarbitone. Genetic counselling is essential for the recognition and prevention of severe hyperbilirubinemia which, in the absence of timely medical intervention, may lead to neurotoxicity. Keywords: Case report; crigler-Najjar syndrome; genetic counseling; phenobarbitone; unconjugated hyperbilirubinemia.</p>","PeriodicalId":16380,"journal":{"name":"Journal of Nepal Health Research Council","volume":"23 1","pages":"208-210"},"PeriodicalIF":0.0000,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Rare Case of Crigler-Najjar Syndrome Type 2.\",\"authors\":\"Anil Kumar Shrestha, Sangay Chultim Sherpa, Asmita Karki, Sumit Agrawal, Deepak Raj Paudel\",\"doi\":\"10.33314/jnhrc.v23i01.5352\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Crigler-Najjar Syndrome Type 2 (CNS2) is a rare autosomal recessive disorder characterized by unconjugated hyperbilirubinemia due to partial deficiency of the enzyme uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1). We present a case of a 13-month-old male admitted to Kanti Children's Hospital with persistent jaundice since birth. Diagnostic evaluation accompanied by gene sequencing confirmed CNS2 and the patient was effectively managed with orally administered phenobarbitone. CNS2 can be distinguished from other potential causes of unconjugated hyperbilirubinemia based on bilirubin concentration and the affected patient's response to phenobarbitone. Genetic counselling is essential for the recognition and prevention of severe hyperbilirubinemia which, in the absence of timely medical intervention, may lead to neurotoxicity. Keywords: Case report; crigler-Najjar syndrome; genetic counseling; phenobarbitone; unconjugated hyperbilirubinemia.</p>\",\"PeriodicalId\":16380,\"journal\":{\"name\":\"Journal of Nepal Health Research Council\",\"volume\":\"23 1\",\"pages\":\"208-210\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-06-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Nepal Health Research Council\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.33314/jnhrc.v23i01.5352\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Nepal Health Research Council","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.33314/jnhrc.v23i01.5352","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Crigler-Najjar Syndrome Type 2 (CNS2) is a rare autosomal recessive disorder characterized by unconjugated hyperbilirubinemia due to partial deficiency of the enzyme uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1). We present a case of a 13-month-old male admitted to Kanti Children's Hospital with persistent jaundice since birth. Diagnostic evaluation accompanied by gene sequencing confirmed CNS2 and the patient was effectively managed with orally administered phenobarbitone. CNS2 can be distinguished from other potential causes of unconjugated hyperbilirubinemia based on bilirubin concentration and the affected patient's response to phenobarbitone. Genetic counselling is essential for the recognition and prevention of severe hyperbilirubinemia which, in the absence of timely medical intervention, may lead to neurotoxicity. Keywords: Case report; crigler-Najjar syndrome; genetic counseling; phenobarbitone; unconjugated hyperbilirubinemia.
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The journal publishes articles related to researches done in the field of biomedical sciences related to all the discipline of the medical sciences, medical education, public health, health care management, including ethical and social issues pertaining to health. The journal gives preference to clinically oriented studies over experimental and animal studies. The Journal would publish peer-reviewed original research papers, case reports, systematic reviews and meta-analysis. Editorial, Guest Editorial, Viewpoint and letter to the editor are solicited by the editorial board. Frequently Asked Questions (FAQ) regarding manuscript submission and processing at JNHRC.
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