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Combined liver-kidney transplantation in a 15-year-old boy with alpha1-antitrypsin deficiency
Massimiliano Loreno1, Patrizia Boccagni, Paolo Rigotti
1Department of Surgical and Gastroenterological Sciences, University of Padua, Via Giustiniani 2, 35122 Padua, Italy.
Insights
Alpha1-antitrypsin (1-AT) deficiency, a genetic disorder, often causes liver disease in children. A 15-year-old boy with 1-AT deficiency successfully received a combined liver-kidney transplant for end-stage liver and kidney failure.
Area of Science:
- Genetics
- Hepatology
- Nephrology
Background:
- Alpha1-antitrypsin (1-AT) deficiency is a common genetic disorder.
- It primarily manifests as liver disease in children and emphysema in adults.
- Liver transplantation offers a cure for 1-AT deficiency-related liver disease.
Observation:
- Glomerulonephritis is reported in severe 1-AT deficiency, but less documented in adults.
- End-stage chronic kidney disease is a rare complication of 1-AT deficiency.
- A 15-year-old boy presented with 1-AT deficiency, end-stage liver disease, and rapidly progressing membranoproliferative glomerulonephritis.
Findings:
- The patient experienced end-stage liver disease and renal failure due to 1-AT deficiency.
- Membranoproliferative glomerulonephritis was diagnosed in the context of severe 1-AT deficiency.
- Combined liver-kidney transplantation was successfully performed.
Implications:
- This case highlights the potential for severe kidney disease in pediatric 1-AT deficiency.
- Combined liver-kidney transplantation is a viable treatment for advanced 1-AT deficiency with multi-organ involvement.
- Further research is needed to understand the link between 1-AT deficiency and glomerulonephritis in adults.
Abstract:
Alpha1-antitrypsin (1-AT) deficiency is the most common genetic cause of liver disease in infants and children. The major clinical manifestations include liver disease (primarily in children) and emphysema in adults. For patients who progress to cirrhosis and liver failure, liver transplantation provides a metabolic cure for the deficiency and presumably prevents the associated complications. Several case reports in the pediatric literature describe glomerulonephritis in the setting of severe 1-AT deficiency, but this association is less well documented in adults. End-stage chronic kidney disease is a rare finding in the literature and kidney transplantation is the treatment of choice. We report on a 15-year-old boy with 1-AT deficiency and consequent end-stage liver disease and membranoproliferative glomerulonephritis rapidly progressing to renal failure, who successfully underwent combined liver-kidney transplantation.
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