¿Por qué debemos preocuparnos de diagnosticar una diabetes monogénica?

Carrasco, Antonio J.

doi:10.1016/j.avdiab.2013.07.001

Cited by 1 publication

(5 citation statements)

References 47 publications

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“…Clinical suspicion should be our first step in the diagnosis of this type of diabetes [1,2,4]. In our case, initially we assume a Type 1 DM in a period of partial clinical remission or honeymoon phase.…”

Section: Discussionmentioning

confidence: 99%

“…MODY GCK gene-variant suspicion was confirmed. GCK mutations cause a resetting of the glucose and is associated with mild hyperglycemia and low ranges of HbA1c (less than 7.6%), while the secretion and regulation of insulin is not completely altered [3,4,19]. The hyperglycemia in GCK-MODY is present throughout life but is usually asymptomatic and only detected when blood glucose is measured incidentally [20].…”

Section: Discussionmentioning

confidence: 99%

“…The hyperglycemia in GCK-MODY is present throughout life but is usually asymptomatic and only detected when blood glucose is measured incidentally [20]. Complications are rare and medication has been shown to have minimal effect [1,4,21]. It was interesting to mention that parents were negative for the mutation in the genetic analysis.…”

Section: Discussionmentioning

confidence: 99%

“…3 Sequence Reference Lab, Lima, Peru. 4 Advanced Metabolic Care and Research San Diego, San Diego, USA.…”

Section: Acknowledgementsmentioning

confidence: 99%

“…Recently 14 genes associated with MODY have been proposed and the clinical characteristics differ according to the genetic etiology [3]. MODY should be suspected in non-obese subjects, onset before 25 years with mild hyperglycemia and absence of Diabetic ketoacidosis (DKA) [1,2,4]. GCK-MODY or MODY2 is one of the most frequent subtypes described and is caused by mutations in the GCK gene inherited in an autosomal dominant manner.…”

Section: Introductionmentioning

confidence: 99%

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Atypical hyperglycemia presentation suggests considering a diagnostic of other types of diabetes: first reported GCK-MODY in Perú

Lizarzaburu-Robles

Torre

Castro-Mujica

et al. 2020

Clin Diabetes Endocrinol

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Background: Prevalence of maturity-onset diabetes of the young (MODY) is estimated between 1 and 2% of all diabetes cases. In Latin-America little information has been described about the frequency of the disease, perhaps due to limited access to genetic studies. Case presentation: We present the case of a male patient with a history of two years of fatigue, mild hyperglycemia and intermittent polyuria, accompanied by a recent history of weight loss. He was diagnosed initially as type 2 diabetes, but in the follow-up as a patient with type 1 diabetes. He required relatively low doses of insulin and was evaluated in the endocrinology service at a hospital in Lima. The results of glucose, insulin and C-peptide in the oral glucose tolerance test (OGTT) performed were not consistent with a type 1 diabetes. Moreover, the age of the patient and the clinical characteristics did not strongly suggest a diagnosis of type 2 diabetes either. These clinical features had prompted us to carry out the genetic study. The genetic test performed with a genetic MODY panel through a massive sequencing. Heterozygous pathogenic for a variant in GCK gene was found c.629C>T p.(Thr210Met). His parents were negative for this variant after performed the genetic test. Conclusions: This is the first case of MODY for a pathogenic variant in the GCK gene reported in Perú. The genetic evaluation of a clinical suspicion of MODY is important to confirm the diagnosis and establish an adequate treatment in patients.

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Section: Discussionmentioning

confidence: 99%