Work

Resolution of proximal tubular dysfunction after liver transplantation in ATP8B1 deficiency: A case report

Year: 2026

Type: article

Abstract: Progressive familial intrahepatic cholestasis type 1 (PFIC1), caused by ATP8B1 deficiency, is a multisystem disorder with extrahepatic manifestations; however, renal involvement has rarely been described. We report a child with genetically confirmed PFIC1 who underwent living donor liver transplantation (LT) for progressive liver disease. Before transplantation, serum creatinine was normal, but a Fanconi-like proximal tubular dysfunction was characterized by elevated urinary β2-microglobulin, proteinuria, phosphaturia, hypercalciuria, and metabolic acidosis requiring bicarbonate supplementation. Following transplantation, these abnormalities rapidly resolved, supporting the hypothesis of reversible cholestasis-associated tubular injury. This case identifies proximal tubular dysfunction as an underrecognized, potentially reversible manifestation of severe, prolonged cholestasis in PFIC1 and supports systematic evaluation of tubular markers before transplantation.

Source: JPGN Reports

DOI: 10.1002/jpr3.70258

Authors: Angela Marino, Nathalie Godefroid, Catherine De Magnée, Xavier Stephenne

Institutions: Cliniques Universitaires Saint-Luc, ERN GUARD-Heart

Language: English

Topic: Drug Transport and Resistance Mechanisms

Subfield: Oncology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $1,900