Indian pediatrics · 2025
Hereditary Tyrosinemia Type 1: Success and Challenges in Indian Subcontinent.
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Das Samannay, Sood Vikrant, Lal Bikrant Bihari, Khanna Rajeev, Alam Seema, Bihari Chhagan
Аннотация
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.
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.