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

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

Sudiksha Veerareddy  1 , Saigopala Reddy  2 , Mauricio Barreto  3 , Niharika Vedherey  4 , Vani V Gopalareddy  5
Affiliations
Case Reports

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

Sudiksha Veerareddy et al. ACG Case Rep J. .

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.

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Figures

Figure 1.
Figure 1.
Trichrome stain -Stage-1 perisinusoidal fibrosis.
Figure 2.
Figure 2.
Mild portal and lobular mixed inflammation.
See this image and copyright information in PMC

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