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Review
. 2023 Jul 1;77(1):110-114.
doi: 10.1097/MPG.0000000000003773. Epub 2023 Mar 14.

Liver Disease in GLIS3 Mutations: Transplant Considerations and Bile Duct Paucity on Explant Histology

Michael R Couper  1 , Rachel M Brown  2 , Girish Gupte  1 , M Thamara P R Perera  1 , Chayarani Kelgeri  1
Affiliations
Review

Liver Disease in GLIS3 Mutations: Transplant Considerations and Bile Duct Paucity on Explant Histology

Michael R Couper et al. J Pediatr Gastroenterol Nutr. .

Abstract

GLI-similar 3 (GLIS3) gene mutation heterozygosity is characterized by neonatal diabetes and hypothyroidism. It has wide phenotypic variability. Liver disease is prevalent, and its complications in some phenotypes are life-limiting. Transplantation and the pathogenesis of GLIS3 liver disease are not well explored in the literature. We report 2 cases of children with GLIS3 mutations with chronic liver disease who required liver transplantation and we present a literature review discussing the pathogenic mechanisms and liver histology. Histology demonstrated predominantly biliary cirrhosis consistent with abnormal bile duct development. Both patients were considered for multi-organ transplantation (liver, pancreas with or without kidney) before receiving a liver transplant alone. Postoperative management can be challenging due to infection, renal disease, and brittle diabetes. GLIS3 mutations need to be added to the list of non-syndromic causes of bile duct paucity in the liver. Liver transplantation should be considered in patients with life-limiting complications related to liver disease.

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Conflict of interest statement

The authors report no conflicts of interest.

References

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