Uncle’s living donation saves 1-year-old girl with liver failure

A liver transplant with an uncle serving as a living donor successfully managed advanced progressive familial intrahepatic cholestasis type 2 (PFIC2) in a one-year-old girl in India, according to a case report.

The girl, who had severe liver disease marked by persistent jaundice (yellowing of the skin and whites of the eyes), intense itching, and poor growth, began improving soon after receiving the transplant.

“This case is noteworthy for the rarity of PFIC-2, the rapid progression to transplantation,” and the use of a “structured nursing theoretical framework in a complex paediatric transplant context, which remains underrepresented in the literature,” the researchers wrote. “Nurses played an important role in monitoring immunosuppressive therapy, detecting complications, coordinating multidisciplinary care, and preparing caregivers for post-transplant management,” they said.

The study, “Navigating the complexities of progressive familial intrahepatic cholestasis-II: Genetic insights, patient outcomes, and nursing implications – A case report,” was published in the Journal of Pediatric Nursing.

PFIC comprises a group of genetic forms of cholestasis, a condition marked by slowed or stalled flow of the digestive fluid bile from the liver to the intestines. Impaired bile flow can lead to bile’s buildup in the liver, damaging the organ, and leakage into the bloodstream, causing cholestasis symptoms such as itchy skin, jaundice, and dark urine.

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Severe PFIC form necessitates transplant

PFIC2 is a particularly severe form of PFIC that typically develops early in life and is associated with “rapid progression to liver failure,” the researchers wrote, at which point a liver transplant is the only therapeutic option.

This form of PFIC is caused by mutations in the ABCB11 gene that impair the production of bile salt export pump (BSEP), a protein that moves bile acids (bile’s main component) out of liver cells.

The girl in the case report, whose parents were first cousins, had shown jaundice from birth and dark urine for six to seven months. Her parents reported abdominal swelling and pigmented stools, and said she frequently rubbed her eyes and ears, a potential sign of itchy skin. Her growth had been poor since she was six months old.

Doctors who examined her found that her weight and height were below standard parameters, and she had jaundice, pallor, red palms, and bulbous, drumstick-like enlargement of the fingertips, as well as an enlarged liver and spleen — all signs of advanced liver disease.

Based on clinical signs, the doctors suspected the girl had PFIC. Blood tests indicated low levels of hemoglobin (the protein that carries oxygen in red blood cells), requiring blood transfusions, and high levels of liver damage markers, including bilirubin, bile acids, and liver enzymes.

Further testing identified active bacterial and fungal infections, “requiring targeted antimicrobial and antifungal therapy,” the team wrote. “Nursing surveillance of hemoglobin trends and infection markers informed transfusion decisions and infection management.”

Imaging scans confirmed an enlarged liver and spleen, and liver biopsy (where a small piece of tissue is collected for analysis under a microscope) revealed features consistent with PFIC2, including BSEP deficiency. This, combined with genetic testing identifying a disease-causing ABCB11 mutation, “established the definitive diagnosis of PFIC-2,” the researchers wrote.

Considering the girl’s advanced disease, including significant liver dysfunction and impaired growth, the medical team decided that liver transplant “was the most appropriate definitive treatment,” the team wrote.

Before the transplant, the girl was treated with ursodeoxycholic acid, a standard medication sold in the U.S. under the brand names Urso and Actigall that boosts bile flow. She also received vitamin supplementation and specialized nutrition.

She underwent a successful living-donor liver transplant with her paternal uncle as the donor, and began immunosuppressive treatment to prevent rejection of the transplanted liver. The girl “demonstrated early clinical stabilization, with improvement in biochemical parameters and resolution of cholestatic symptoms,” the team wrote.

The girl was discharged 29 days after the transplant in stable condition, with planned follow-up for ongoing monitoring for long-term risks, including transplanted organ rejection, PFIC recurrence, and immunosuppression-related complications.

“The direct progression to transplantation … reflects advanced disease severity and aligns with current trends towards earlier transplantation in severe PFIC-2,” the researchers wrote.

In addition, “the use of a theory-guided framework supported integrated, family-centred nursing care while reinforcing proactive assessment, clinical judgment, and caregiver preparation across the [period before, during, and after surgery],” the team concluded. “Continued development of evidence-based, nurse-driven guidelines is essential to advancing safe, holistic, and equitable care for paediatric patients with PFIC-2 and similar conditions.”