Diabetes MODY:

report of four cases

Authors

  • Javier Chiarpenello Servicio de Endocrinología del Hospital Centenario de Rosario. Centro de Endocrinología de Rosario. Rosario; Santa Fe; Argentina.
  • M. Ailén Vidal Concurrente del Servicio de Endocrinología de Rosario. Rosario; Santa Fe; Argentina.
  • Ana Laura Baella Servicio de Endocrinología del Hospital Centenario de Rosario. Rosario; Santa Fe; Argentina.
  • Julia Bonino Concurrente del Servicio de Endocrinología de Rosario. Rosario; Santa Fe; Argentina.
  • María Victoria Pent Maria Concurrente del Servicio de Endocrinología de Rosario. Rosario; Santa Fe; Argentina.
  • Virginia Sermasi Concurrente del Servicio de Endocrinología de Rosario. Rosario; Santa Fe; Argentina.
  • María de las Nieves Laurenti Concurrente del Servicio de Endocrinología de Rosario. Rosario; Santa Fe; Argentina.
  • V. Castagnani Servicio de Endocrinología del Hospital Centenario de Rosario. Rosario; Santa Fe; Argentina.

Keywords:

MODY, gen glucoquinasa, diabetes, HNF1A, mutación

Abstract

With the term diabetes MODY (Maturity Onset Diabetes of the Young) is called a heterogeneous group of monogenic diseases, which present in common a dysfunction of β cells. There are currently more than 800 mutations related to this type of diabetes. The most common is MODY 2 diabetes due to a mutation within the glucokinase gene. Its prevalence is estimated between 2-5% of non-insulin-dependent diabetes types. The present work describes four MODY diabetes mutations (three type 2 and one type 3) diagnosed in the Child Endocrinology Service of the Centenario Hospital of the city of Rosario, Santa Fe, Argentina.

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Published

2020-08-12

How to Cite

Chiarpenello, J., Vidal, M. A. ., Baella, A. L. ., Bonino, J. ., Pent Maria, M. V. ., Sermasi, V., Laurenti, M. de las N. . and Castagnani, V. (2020) “Diabetes MODY: : report of four cases”, Revista Médica de Rosario, 86(2), pp. 84-88. Available at: https://revistamedicaderosario.org/index.php/rm/article/view/77 (Accessed: 4December2024).

Issue

Section

Case series

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