Samanta Arghya, Parveen Neha, Sen Sarma Moinak, Poddar Ujjal, Srivastava Anshu
Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.
J Clin Exp Hepatol. 2024 Mar-Apr;14(2):101290. doi: 10.1016/j.jceh.2023.10.001. Epub 2023 Oct 5.
Cholestatic liver diseases in children often have an underlying genetic defect. Genetic testing by next-generation sequencing has become a crucial part of the diagnostic armamentarium in such clinical scenarios. Here, we report three children who presented with early-onset cholestatic jaundice and pruritus. All of them had low gamma-glutamyl transferase and high serum bile acid levels. Symptoms were alleviated with ursodeoxycholic acid and cholestyramine in all 3 children with normal LFT at follow-up. They were detected to have novel pathogenic mutations (2 homozygous, 1 compound heterozygous) on next-generation sequencing which have previously not been reported.
儿童胆汁淤积性肝病通常存在潜在的基因缺陷。在这类临床情况下，通过新一代测序进行基因检测已成为诊断手段的关键组成部分。在此，我们报告三名出现早发性胆汁淤积性黄疸和瘙痒的儿童。他们的γ-谷氨酰转移酶水平均较低，血清胆汁酸水平较高。在随访中，所有3名肝功能正常的儿童使用熊去氧胆酸和考来烯胺后症状均得到缓解。通过新一代测序检测发现他们存在此前未报道过的新的致病突变（2个纯合突变，1个复合杂合突变）。
