Increased Liver Enzymes: An Under-Recognized Finding in Maturity-Onset Diabetes of the Young Type 5 (MODY 5).
| Autor: | Veerareddy S; Mediciti Institute of Medical Sciences, Telangana, India., Reddy S; University of North Carolina School of Medicine, Chapel Hill, NC., Barreto M; Childrens National Hospital, Washington, DC., Vedherey N; West Virginia School of Osteopathic Medicine, Lewisburg, WV., Gopalareddy VV; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Levine Childrens Hospital at Atrium Health, Charlotte, NC. |
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| Jazyk: | angličtina |
| Zdroj: | ACG case reports journal [ACG Case Rep J] 2023 Oct 03; Vol. 10 (10), pp. e01150. Date of Electronic Publication: 2023 Oct 03 (Print Publication: 2023). |
| DOI: | 10.14309/crj.0000000000001150 |
| Abstrakt: | 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. (© 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.) |
| Databáze: | MEDLINE |
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