Emergency Living Donor Liver Transplantation for Acute-on-Chronic Liver Failure Caused by AKR1D1-Related Bile Acid Synthesis Disorder Type 2: A Case Report - 03/09/26
, Raghuram Reddy, Prashanth Bachina, Poushya Sai Madhavapeddy, Kapil Sachane, Mettu Srinivas Reddy
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Highlights |
• | AKR1D1 (Aldo-Keto Reductase Family 1 Member D1) mutation is a very rare liver disease of genetic origin causing neonatal cholestasis. |
• | To our knowledge, this is the first published case report highlighting the acute on chronic liver failure presentation in bile acid synthesis disorder (BASD Type 2). |
• | Early initiation of bile acid replacement therapy prevents accumulation of toxic intermediates and progression of liver disease. |
• | When medical therapy fails, a coordinated multidisciplinary approach and timely living donor liver transplantation can be lifesaving in children with life-threatening hepatic failure while providing definitive treatment of the underlying liver disease. |
Abstract |
Inborn errors of bile acid metabolism are rare causes of infantile cholestasis. They involve inherited deficiencies in enzymes responsible for catalyzing key reactions in the synthesis of primary bile acids.
Bile acid synthesis defect (BASD) type 2 is a rare congenital autosomal recessive disease due to mutation in Aldo-keto reductase family 1 member D1 (AKR1D1) gene. If not diagnosed early and treated with bile acid replacement therapy, it can result in rapid progression to liver failure in infancy.
There are only 2 published reported cases of BASD type 2 patients who underwent liver transplantation due to progressive chronic liver disease with decompensation.
To our knowledge, this appears to be the first published report of an 8-month-old boy with BASD type 2, presenting as acute-on-chronic liver failure requiring emergency living donor liver transplantation. In this report we emphasize that emergency living donor liver transplantation is lifesaving as well as a disease curative option in carefully selected cases.
Le texte complet de cet article est disponible en PDF.Keywords : Bile acid synthesis defect type 2, AKR1D1 Mutation, Δ⁴–3-oxosteroid 5β-reductase deficiency, Acute-on-chronic liver failure, Bile acid replacement therapy, Living donor liver transplantation
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