Mutations in the HNF1A gene as a cause of MODY3: a clinical case

Cover Page

Cite item

Abstract

Genetic dysfunction of the pancreatic β-cells and/ or factors participating in glucose metabolism can form the bases for monogenic types of diabetes mellitus. Diagnosis of MODY type of diabetes is difficult due to its rare identification in the real clinical practice and to the necessity of molecular genetic testing for the confirmation of specific mutations. Errors in the diagnosis of diabetes mellitus may be misleading for the choice of hypoglycemic treatment, which is the key problem in the management of these patients. In the clinical case described, the diagnosis of MODY3 related to the mutations in the HNF1A transcriptional factor was confirmed during pregnancy of the patient, i.e. more than 15 years had passed from manifestation of the disease in childhood, despite typical clinical symptoms and specific familial history. Optimization of the early diagnosis and management of this patient cohort can be facilitated by accumulation of theoretical knowledge and practical experience, as well as improvement of diagnostic capacities, including higher availability of molecular genetic analysis.

About the authors

T. Yu. Demidova

Pirogov Russian National Research Medical University (RNRMU)

Email: fake@neicon.ru

Tatiana Yu. Demidova – MD, PhD, Professor, Faculty of General Medicine, Head of the Endocrinology Department,

1 Ostrovityanova ul., Moscow, 117997

Russian Federation

E. Yu. Gritskevich

Pirogov Russian National Research Medical University (RNRMU)

Author for correspondence.
Email: genyan.7@mail.ru

Elena Yu. Gritskevich – Assistan, Faculty of General Medicine, Endocrinology Department,

14/1–157 Akademika Pilyugina ul., Moscow, 117393

Russian Federation

O. V. Balutina

Pirogov Russian National Research Medical University (RNRMU)

Email: fake@neicon.ru

Olga V. Balutina – Resident, Faculty of General Medicine, Endocrinology Department,

1 Ostrovityanova ul., Moscow, 117997

Russian Federation

References

  1. Anık A, Çatlı G, Abacı A, Böber E. Maturity-onset diabetes of the young (MODY): an update. J Pediatr Endocrinol Metab. 2015;28(3–4):251– 63. doi: 10.1515/jpem-2014-0384.
  2. Shih DQ, Stoffel M. Dissecting the transcriptional network of pancreatic islets during development and differentiation. Proc Natl Acad Sci U S A. 2001;98(25):14189–91. doi: 10.1073/pnas.251558998.
  3. Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat. 2013;34(5):669–85. doi: 10.1002/humu.22279.
  4. Кураева ТЛ, Сечко ЕА, Еремина ИА, Иванова ОН, Прокофьев СА. Особенности течения MODY3 у ребенка с фенотипом сахарного диабета 2 типа. Сахарный диабет. 2013;16(2):88–93. doi: 10.14341/2072-0351-3762.
  5. Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, Hattersley AT. Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. Diabetes Care. 2005;28(7):1751–6. doi: 10.2337/diacare.28.7.1751.
  6. Pontoglio M, Prié D, Cheret C, Doyen A, Leroy C, Froguel P, Velho G, Yaniv M, Friedlander G. HNF1alpha controls renal glucose reabsorption in mouse and man. EMBO Rep. 2000;1(4):359–65. doi: 10.1093/embo-reports/kvd071.
  7. Зильберман ЛИ, Кураева ТЛ, Петеркова ВА. Федеральные клинические рекомендации по диагностике и лечению моногенных форм сахарного диабета у детей и подростков. М.; 2013. [Интернет]. Доступно на: https://www.endocrincentr.ru/sites/default/files/specialists/science/clinicrecomendations/mno.pdf.
  8. Mikuscheva A, Mekhail A, Wheeler BJ. Pregnancy complicated by maternal MODY 3 and paternal MODY 2 diabetes and subsequent rapidly falling insulin requirement. Case Rep Obstet Gynecol. 2018;2018:9451061. doi: 10.1155/2018/9451061.

Supplementary files

There are no supplementary files to display.


Copyright (c) 2019 Demidova T.Y., Gritskevich E.Y., Balutina O.V.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies