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
Department of Hepatology, AIG Hospitals, Hyderabad, India.
Department of Genomics, Asian Healthcare Foundation, Hyderabad, India.
Gastro Hep Adv. 2025 Jun 6;4(9):100717. doi: 10.1016/j.gastha.2025.100717. eCollection 2025.
Wilson's disease (WD) is a disorder of copper metabolism caused by a mutation in the gene. We aimed to comprehensively evaluate the clinical and genetic profiles of patients with WD.
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.
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 ( = .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 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 variants were p.Gly977Glu, p.Cys271Ter, and p.Asn1186Ser.
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.
威尔逊病（WD）是一种由该基因的突变引起的铜代谢紊乱疾病。我们旨在全面评估WD患者的临床和基因特征。
这是一项在印度海得拉巴的AIG医院进行的单中心回顾性研究。纳入了2020年6月至2024年4月期间在门诊和住院环境中被诊断和治疗的WD患者。
2020年6月至2024年4月共纳入156例患者（女性占33.3%），中位年龄为19岁（2至57岁）。48%（n = 75）的患者为儿童年龄<19岁。儿童人群中肝病的临床表现包括26.7%为急性肝衰竭，20%为慢加急性肝衰竭，而成人中失代偿性肝硬化的比例为30.9%。在Kaplan-Meier分析中，儿童组在中位随访时间1.33年（范围，0.01至24）后的无移植生存率为72%（95%置信区间[CI]，60.4 - 81.8），而成人组为87.7%（95% CI，78.5 - 93.9）（P = 0.01）。13%的患者接受了活体供肝移植，0.7%（n = 1）的患者发生了胆管癌，0.7%（n = 1）的患者接受了经颈静脉肝内门体分流术。70%的患者接受了针对该基因突变的基因评估
