Cob GE, Cob SA

Language: Spanish
References: 16
Page: 63-67
PDF size: 173.10 Kb.

ABSTRACT

Diabetes Mellitus is a group of complex diseases, characterized by the presence of hyperglycemia. Diabetes can be classified into several categories, type 1 DM, type 2 DM, Gestational Diabetes and other specific types of diabetes: within this category the monogenic diabetes is one of them and its pathophysiological affectation is due to the mutation of a single gene. Maternally inherited diabetes and deafness (MIDD) is a rare type of diabetes mellitus, caused by a mutation in mitochondrial DNA. It affects almost 1% of the population with diabetes but due to its clinical characteristics, it is commonly misdiagnosed by physicians as type 1 or type 2 DM (1). The majority of MIDD cases are associated with the m.3243A› G mutation that corresponds to a substitution of an adenine molecule with a guanine molecule at position 3243 of the mitochondrial DNA. A family history of diabetes, deafness and macular dystrophy is highly suggestive of the disease and the corresponding diagnostic tests must be performed.
We present the case of a female patient diagnosed as type 1 DM at 23 years of age, with a history of bilateral sensorineural deafness, short stature, low BMI, receiving insulin therapy, admitted at the obstretric ward with a pregnancy of 20 weeks. The identification of macular dystrophy, detectable C Peptide levels, low IGF-1 and low growth hormone levels, negative Anti-GAD and Anti-Insulin antibodies, raised the possibility of Mitochondrial Diabetes and this diagnosis was further confirmed by genetic tests. This case report represents the first patient diagnosed and confirmed genetically with MIDD in Costa Rica.

REFERENCES

1. Murphy R Turnbull D M Walkers M Hattersley A T. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. DiabeticMedicine. 2008;25:383-399.

2. Sampedro A Barbón J J Álvarez J A Andrés M A Baldó C. Diabetes de Herencia Materna y Sordera. Arch Soc Esp Oftalmol. 2009;84(7):359-361.

3. Maassen J A Hart L M van Essen E et al. Mitochondrial Diabetes Molecular Mechanisms and Clinical Presentation. Diabetes. 2004;53:S103-S109.

4. Jones D L Greenaway T M. Maternally inherited diabetes and deafness with systemic (mitochondrial) manifestations. Intern Med J. 2004;34(8):517-518.

5. Owen K R. Treating young adults with type 2 diabetes or monogenic diabetes. Best Pract Res Clin Endocrinol Metab. 2016 Jun;30(3):455-467.

6. Donovan L E Severin N E. Maternally Inherited Diabetes and Deafness in North America Kindred: Tips for Making the Diagnosis and Review of Unique Management Issue..J Clin Endocrinol Metab. 2006;91:4737-4742.

7. Maassen J A. Mitochondrial Diabetes: Pathophysiology, Clinical Presentation, and Genetic Analysis. Am J Med Genet. 2002;115:66-70.

8. Naing A Kenchaiah M Krishman B Mir F Charnley A Egan C Bano G. Maternally inherited diabetes and deafness. Journal of Diabetes And Its Complications. 2014;28:542-546.

9. Murphy R Turnbull D M Walkers M Hattersley A T. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. DiabeticMedicine. 2008;25:383-399.

10. Sampedro A Barbón J J Álvarez J A Andrés M A Baldó C. Diabetes de Herencia Materna y Sordera. Arch Soc Esp Oftalmol. 2009;84(7):359-361.

11. Maassen J A Hart L M van Essen E et al. Mitochondrial Diabetes Molecular Mechanisms and Clinical Presentation. Diabetes. 2004;53:S103-S109.

12. Jones D L Greenaway T M. Maternally inherited diabetes and deafness with systemic (mitochondrial) manifestations. Intern Med J. 2004;34(8):517-518.

13. Owen K R. Treating young adults with type 2 diabetes or monogenic diabetes. Best Pract Res Clin Endocrinol Metab. 2016 Jun;30(3):455-467.

14. Donovan L E Severin N E. Maternally Inherited Diabetes and Deafness in North America Kindred: Tips for Making the Diagnosis and Review of Unique Management Issue..J Clin Endocrinol Metab. 2006;91:4737-4742.

15. Maassen J A. Mitochondrial Diabetes: Pathophysiology, Clinical Presentation, and Genetic Analysis. Am J Med Genet. 2002;115:66-70.

16. Naing A Kenchaiah M Krishman B Mir F Charnley A Egan C Bano G. Maternally inherited diabetes and deafness. Journal of Diabetes And Its Complications. 2014;28:542-546.