Title: Living-donor liver transplantation in children with inherited metabolic and genetic cholestatic liver diseases: a single-center retrospective cohort study
Source: Orphanet Journal of Rare Disease 2026, 21 (1): 183
Date of publication: April 2026
Publication type: Single-center retrospective study
Abstract: Background: Living donor liver transplantation (LDLT) has become an important therapeutic option for children with selected inherited metabolic and genetic cholestatic liver diseases (IM-GCLDs).However, evidence on disease-specific outcomes across different diagnostic categories remains limited, and we therefore conducted a single-center retrospective study with contemporaneous non-IM-GCLD pediatric LDLT recipients as a comparator to better contextualize transplant-related outcomes and disease-specific benefits.
Results: Among 21 children with IM-GCLDs, the median follow-up was 21 months; two patients died (one perioperatively from disseminated intravascular coagulation and one at 21 months from pneumonia-related multiorgan failure), and all others are alive with functioning grafts. Disease-specific manifestations, including neuropsychiatric symptoms, portal hypertension, metabolic crises, cholestasis, hyperbilirubinemia, and hyperammonemia, improved or resolved in almost all survivors.At 6 months after LDLT, in children <10 years, mean weight- and height-for-age Z-scores increased from -0.48 to 0.43 and from -0.76 to -0.01; in children ≥10 years, mean height Z-scores increased from -1.49 to -0.53 while BMI Z-scores showed no significant change. Overall survival did not differ significantly between IM-GCLDs and non-IM-GCLD indications.
Conclusions: Living donor liver transplantation in children with IM-GCLDs not only improves survival but also confers disease-specific benefits, including recovery of neurologic function, metabolic stabilization, relief of portal hypertension and cholestasis, and catch-up growth. These findings support LDLT as an important therapeutic option for IM-GCLDs, while diagnosis-tailored perioperative assessment and long-term management remain essential given the phenotypic heterogeneity.
