Gastro hep advances · 2025
Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
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Kulkarni Anand V, Bale Govardhan, Vishnubotla Ravikanth, Rambhatla Anuhya, Sharma Mithun, Sabhapandit Swapnali, Chintam Archana, Alla Manasa, Venishetty Shantan, Iyengar Sowmya, Komalla Ravi Babu, Ramachandran Sumana Kolar, Menon Balachandran, Kalapala Rakesh, Gupta Rajesh, Rao Padaki Nagaraj, Reddy Duvvur Nageshwar, Schilsky Michael L, Reddy K Rajender
Аннотация
BACKGROUND AND AIMS: Wilson's disease (WD) is a disorder of copper metabolism caused by a mutation in the ATP7B gene. We aimed to comprehensively evaluate the clinical and genetic profiles of patients with WD.
METHODS: This was a single-center retrospective study conducted at AIG Hospitals, Hyderabad, India. Patients diagnosed and treated for WD both in outpatient and inpatient settings from June 2020 to April 2024 were included.
RESULTS: A total of 156 patients (women being 33.3%) with a median age of 19 years (2-57) were included from June 2020 to April 2024. Forty eight percent (n = 75) patients were of pediatric age <19 years. Clinical presentation with liver disease in the pediatric population included 26.7% with acute liver failure and 20% as acute-on-chronic liver failure compared to 30.9% with decompensated cirrhosis in the adults. On Kaplan-Meier analysis, in the pediatric group, the transplant-free survival was 72% (95% confidence interval [CI], 60.4-81.8) compared to 87.7% (95% CI, 78.5-93.9) in the adult group (P = .01) after a median duration of follow-up of 1.33 years (range, 0.01-24). Thirteen percent of patients underwent living donor liver transplantation, 0.7% (n = 1) patients developed cholangiocarcinoma, and 0.7% (n = 1) underwent transjugular intrahepatic portosystemic shunt. Seventy percent of patients underwent genetic evaluation for ATP7B mutations and 54.1% (59 of 109) were homozygous or compound heterozygous for a combination of either pathogenic variant and/or variants of uncertain significance. The most common pathogenic ATP7B variants were p.Gly977Glu, p.Cys271Ter, and p.Asn1186Ser.
CONCLUSION: Pediatric patients with WD present more often with an acute illness and have lower transplant-free survival compared to adults, with ATP7B mutations identified in over half of those tested, highlighting the need for early genetic evaluation and tailored management.
METHODS: This was a single-center retrospective study conducted at AIG Hospitals, Hyderabad, India. Patients diagnosed and treated for WD both in outpatient and inpatient settings from June 2020 to April 2024 were included.
RESULTS: A total of 156 patients (women being 33.3%) with a median age of 19 years (2-57) were included from June 2020 to April 2024. Forty eight percent (n = 75) patients were of pediatric age <19 years. Clinical presentation with liver disease in the pediatric population included 26.7% with acute liver failure and 20% as acute-on-chronic liver failure compared to 30.9% with decompensated cirrhosis in the adults. On Kaplan-Meier analysis, in the pediatric group, the transplant-free survival was 72% (95% confidence interval [CI], 60.4-81.8) compared to 87.7% (95% CI, 78.5-93.9) in the adult group (P = .01) after a median duration of follow-up of 1.33 years (range, 0.01-24). Thirteen percent of patients underwent living donor liver transplantation, 0.7% (n = 1) patients developed cholangiocarcinoma, and 0.7% (n = 1) underwent transjugular intrahepatic portosystemic shunt. Seventy percent of patients underwent genetic evaluation for ATP7B mutations and 54.1% (59 of 109) were homozygous or compound heterozygous for a combination of either pathogenic variant and/or variants of uncertain significance. The most common pathogenic ATP7B variants were p.Gly977Glu, p.Cys271Ter, and p.Asn1186Ser.
CONCLUSION: Pediatric patients with WD present more often with an acute illness and have lower transplant-free survival compared to adults, with ATP7B mutations identified in over half of those tested, highlighting the need for early genetic evaluation and tailored management.