Infrequent presentations of MODY diabetes, the example of MODY type 5 and the novo forms of MODY type 2

Authors

  • Alejandro De Dios Carlos G. Durand Hospital, Autonomous City of Buenos Aires, Faculty of Pharmacy and Biochemistry (FFYB), University of Buenos Aires (UBA), Autonomous City of Buenos Aires, Argentina
  • Sofía Irene Trobo Hospital de Clínicas José de San Martín, Autonomous City of Buenos Aires, Argentina
  • María Silvia Pérez Manlab Biochemical and Genomic Diagnostic Laboratory, Autonomous City of Buenos Aires, Argentina
  • Ignacio Chiesa Manlab Biochemical and Genomic Diagnostic Laboratory, Autonomous City of Buenos Aires, Argentina
  • Gustavo Daniel Frechtel Hospital de Clínicas José de San Martín, Autonomous City of Buenos Aires, Argentina
  • Ariel Pablo López Faculty of Pharmacy and Biochemistry of the University of Buenos Aires (UBA), Autonomous City of Buenos Aires, Argentina

DOI:

https://doi.org/10.47196/diab.v51i4.39

Keywords:

MODY, monogenic diabetes, GCK, HNF1B

Abstract

MODY is produced by alterations in genes related to pancreatic beta cell metabolism. Type 2 is produced by alterations in the GCK gene (glucokinase) being one of the most frequent and type 5 by alterations in the HNF1B gene (nuclear hepatic factor 1B) being less frequent. Both present autosomal dominant inheritance, although the presence of de novo mutations has been described.

The aim of the present study was to search for mutations in the GCK gene in patients with no family history but with clinical features of MODY2 and search for mutations in the HNF1B gene in patients with clinical characteristics of MODY5, with and without family history. Sequencing of each gene, from the DNA of each patient, was performed by the Sanger method or by next generation sequencing. As a result, we found mutations in the GCK gene in four patients with no family history and mutations in the HNF1B gene in two patients, one of whom had no family history.

In conclusion, we can say that patients with de novo mutations in the GCK gene are more frequent than described, which is why it is recommended to study the gene in patients with compatible characteristics without a family history. It is also important to study the HNF1B gene in patients with typical characteristics since they should be treated not only for their renal alterations but for the present Diabetes. Thus, a correct diagnosis is achieved and the most appropriate treatment could be established.

Author Biographies

Alejandro De Dios, Carlos G. Durand Hospital, Autonomous City of Buenos Aires, Faculty of Pharmacy and Biochemistry (FFYB), University of Buenos Aires (UBA), Autonomous City of Buenos Aires, Argentina

Medical Doctor of the Clinic Service of the Durand Hospital; Chair of Molecular Genetics of the FFYB

Sofía Irene Trobo, Hospital de Clínicas José de San Martín, Autonomous City of Buenos Aires, Argentina

Medical specialist of the Genetic Division

María Silvia Pérez, Manlab Biochemical and Genomic Diagnostic Laboratory, Autonomous City of Buenos Aires, Argentina

Medical specialist in Genomic Medicine

Ignacio Chiesa, Manlab Biochemical and Genomic Diagnostic Laboratory, Autonomous City of Buenos Aires, Argentina

Medical specialist in Genomic Medicine

Gustavo Daniel Frechtel, Hospital de Clínicas José de San Martín, Autonomous City of Buenos Aires, Argentina

Physician Specialist in Nutrition, Doctorate in the UBA; Associate Professor of the Nutrition Chair, Department of Medicine (UBA); Head of the Genetic Division of the Hospital de Clínicas (UBA); Head of the Nutrition and Diabetes Service, Syrian Lebanese Hospital; Member of the Pharmacy Committee of the SAD

Ariel Pablo López, Faculty of Pharmacy and Biochemistry of the University of Buenos Aires (UBA), Autonomous City of Buenos Aires, Argentina

Chair of Molecular Genetics, Faculty of Pharmacy and Biochemistry; Genetics Division, Hospital de Clínicas José de San Martín, Faculty of Medicine (UBA)

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Published

2023-01-10

How to Cite

De Dios, A., Trobo, S. I., Pérez, M. S., Chiesa, I., Frechtel, G. D., & López, A. P. (2023). Infrequent presentations of MODY diabetes, the example of MODY type 5 and the novo forms of MODY type 2. Journal of the Argentine Society of Diabetes, 51(4), 129–136. https://doi.org/10.47196/diab.v51i4.39

Issue

Vol. 51 No. 4 (2017): September/December 2017

Section

Original article

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Dirección Nacional de Derecho de Autor, Exp. N° 5.333.129. Instituto Nacional de la Propiedad Industrial, Marca «Revista de la Sociedad Argentina de Diabetes - Asociación Civil» N° de concesión 2.605.405 y N° de disposición 1.404/13.

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