ArticleIndian pediatrics2025
Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent.
Article in Indian pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesTo analyze the profile and outcomes of Indian children with hereditary tyrosinemia type 1 (HT-1).
methodsIn 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.
resultsEighteen 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.
conclusionNative 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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