Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)

Sudiksha Veerareddy; Saigopala Reddy; Mauricio Barreto; Niharika Vedherey; Vani V Gopalareddy

doi:10.14309/crj.0000000000001150

Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5)

ACG Case Rep J. 2023 Oct 3;10(10):e01150. doi: 10.14309/crj.0000000000001150. eCollection 2023 Oct.

Authors

Sudiksha Veerareddy¹, Saigopala Reddy², Mauricio Barreto³, Niharika Vedherey⁴, Vani V Gopalareddy⁵

Affiliations

¹ Mediciti Institute of Medical Sciences, Telangana, India.
² University of North Carolina School of Medicine, Chapel Hill, NC.
³ Childrens National Hospital, Washington, DC.
⁴ West Virginia School of Osteopathic Medicine, Lewisburg, WV.
⁵ Division of Pediatric Gastroenterology, Hepatology and Nutrition, Levine Childrens Hospital at Atrium Health, Charlotte, NC.

Abstract

Maturity-onset diabetes of the young type 5 (MODY 5) is characterized by a single gene mutation in the HNF1B gene. This frequently leads to insulin resistance and presents as young-onset diabetes. Other manifestations can occur in organs expressing hepatocyte nuclear factor-1 beta. This case report highlights family members with MODY 5 presenting with increased liver enzymes with no etiology. The siblings and their mother had a point mutation p.Arg235Trp in HNF1B gene located at 17q12. This variant is associated with autosomal dominant MODY 5 with renal cysts also known as renal cysts and diabetes syndrome.

Keywords: HNF-1 beta; elevated liver enzymes; maturity onset diabetes of the young.

Publication types

Case Reports