Scholarlink

Objectives <p>To analyze the profile and outcomes of Indian children with hereditary tyrosinemia type 1<b> (</b>HT-1).</p> Methods <p>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.</p> Results <p>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 (<i>n</i> = 7), one child survived with native liver, 3 children underwent liver transplant (LT) and 3 died. In the non-NTBC group (<i>n</i> = 11), 4 underwent LT (rest died). Post-LT survival was 100% without new-onset/recurrent HCC.</p> Conclusion <p>Native liver outcomes for HT-1 in the Indian subcontinent remain dismal with a high proportion developing HCC and requiring LT for optimum outcomes.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent

  • 期刊论文

  • 发表日期：

    2025年9月26日

查看全文
  • Samannay Das,
  • Vikrant Sood,
  • Bikrant Bihari Lal,
  • Rajeev Khanna,
  • Seema Alam,
  • Chhagan Bihari

摘要

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.