Navigating the complexities of progressive familial intrahepatic cholestasis-II: Genetic insights, patient outcomes, and nursing implications - A case report

Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC-2) is a rare autosomal recessive liver disorder caused by mutations in the ABCB11 gene encoding the bile salt export pump (BSEP). The condition is characterised by persistent cholestasis, low γ-glutamyl transferase (GGT) levels, severe pruritus, hepatosplenomegaly, and progressive liver dysfunction. Due to its rarity and clinical complexity, early recognition and coordinated multidisciplinary management are essential.

We report the case of a 1-year-4-month-old girl with genetically confirmed PFIC-2 who presented with progressive jaundice, severe pruritus, hepatosplenomegaly, and growth retardation. Diagnostic evaluation included biochemical testing, liver biopsy demonstrating loss of BSEP expression, and confirmation of an ABCB11 mutation. Given advanced disease severity, the patient underwent successful living-donor liver transplantation. During the perioperative period, nursing management focused on symptom monitoring, infection surveillance, nutritional support, immunosuppression monitoring, and caregiver education.

Application of Lydia Hall's Care-Cure-Core framework supported a structured approach to nursing assessment and intervention, integrating physiological management with family-centered care. Nurses played an important role in monitoring immunosuppressive therapy, detecting complications, coordinating multidisciplinary care, and preparing caregivers for post-transplant management.

In this single case, liver transplantation was associated with clinical stabilization during the early postoperative period. Observations from this case highlight the importance of specialized paediatric nursing care in the perioperative management of rare genetic liver disorders. However, as outcomes were based on clinical observation rather than validated measurement tools, conclusions regarding broader effectiveness or generalizability remain limited.