Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent.

IF 1.5 4区医学 Q2 PEDIATRICS

Indian pediatrics Pub Date : 2025-09-26 DOI:10.1007/s13312-025-00182-7

Samannay Das, Vikrant Sood, Bikrant Bihari Lal, Rajeev Khanna, Seema Alam, Chhagan Bihari

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引用次数: 0

Abstract

Objectives: To analyze the profile and outcomes of Indian children with hereditary tyrosinemia type 1 (HT-1).

Methods: In this retrospective study, the data of children with a confirmed diagnosis of HT-1 from 2013 to 2024 admitted in the pediatric hepatology unit of a tertiary care referral center were analyzed.

Results: Eighteen children with HT-1 with a median (Q1, Q3) age of diagnosis of 15.5 (6, 44) months were included. All children had established cirrhosis. Hepatocellular carcinoma (HCC) was noted in 4 patients at baseline, while HCC developed in 4 children on follow-up. Only 7 (38.9%) children could be initiated on nitisinone or 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC). In the NTBC group (n = 7), one child survived with native liver, 3 children underwent liver transplant (LT) and 3 died. In the non-NTBC group (n = 11), 4 underwent LT (rest died). Post-LT survival was 100% without new-onset/recurrent HCC.

Conclusion: Native liver outcomes for HT-1 in the Indian subcontinent remain dismal with a high proportion developing HCC and requiring LT for optimum outcomes.

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遗传性酪氨酸血症1型：印度次大陆的成功与挑战。

目的：分析印度遗传性1型酪氨酸血症（HT-1）患儿的概况和预后。方法：回顾性分析某三级转诊中心儿科肝病科2013 - 2024年确诊为HT-1患儿的资料。结果：纳入18例HT-1患儿，中位（Q1, Q3）诊断年龄为15.5（6,44）个月。所有的孩子都有肝硬化。基线时4例患者发现肝细胞癌（HCC），随访时4例儿童发生HCC。只有7例（38.9%）患儿可以开始使用尼替西酮或2-[2-硝基-4-三氟甲基苯甲酰]-1,3-环己二酮（NTBC）。在NTBC组（n = 7）中，1例患儿以天然肝脏存活，3例患儿接受肝移植（LT）， 3例死亡。非ntbc组（n = 11） 4例行肝移植（其余死亡）。肝移植后生存率为100%，无新发/复发HCC。结论：印度次大陆HT-1患者的本地肝脏预后仍然令人沮丧，发展为HCC的比例很高，需要肝移植才能获得最佳预后。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Indian pediatrics 医学-小儿科

CiteScore

3.30

自引率

8.70%

发文量

344

审稿时长

3-8 weeks

期刊介绍： The general objective of Indian Pediatrics is "To promote the science and practice of Pediatrics." An important guiding principle has been the simultaneous need to inform, educate and entertain the target audience. The specific key objectives are: -To publish original, relevant, well researched peer reviewed articles on issues related to child health. -To provide continuing education to support informed clinical decisions and research. -To foster responsible and balanced debate on controversial issues that affect child health, including non-clinical areas such as medical education, ethics, law, environment and economics. -To achieve the highest level of ethical medical journalism and to produce a publication that is timely, credible and enjoyable to read.