Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico

C, Felipe Pollak; L., Marcela Lagos; M., José L. Santos; Poggi, Helena; C., Abraham Urzúa; C., Hana Rumié

doi:10.4067/s0034-98872017000901203

Cited by 3 publications

(5 citation statements)

References 6 publications

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“…El hermano tiene MODY2, aunque de acuerdo a sus parámetros clínicos se clasificaría como prediabético, se establece que la mutación es heredada del padre. La variación encontrada es distinta a las informadas en otros pacientes chilenos 8,9 .…”

Section: Discussionunclassified

Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico

et al. 2018

Rev. méd. Chile

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Finding of a new mutation in a chilean family with monogenic diabetes. Report of one case We report a 21 years old woman, without offspring, with diabetes mellitus diagnosed at 17 years of age, without ketosis or weight loss. Her body mass index was 18 kg/m 2. Her C peptide was normal (2.3 ng/ml) and diabetes mellitus type 1 autoantibodies were negative. A monogenic diabetes Maturity Onset Diabetes of the Young (MODY) was proposed. Her family study disclosed a diabetic father and a brother with altered fasting glucose levels. The University of Exeter score for MODY yielded a 75.5% probability of MODY2. In the genetic-molecular study of the glucokinase gene (MODY2), the patient had a mutation at position 1343 of exon 10, corresponding to a heterozygous substitution of guanine by adenine (1343 G >A). The same mutation was found in her father and brother. This mutation is different from those previously described in the literature. The described change determines that a glycine is replaced by aspartic at amino acid 448 of the enzyme (non-synonymous substitution). The diagnosis of MODY2 was therefore confirmed in the patient and her father. The mutation was inherited by paternal line.

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Section: Discussionunclassified

Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico

et al. 2018

Rev. méd. Chile

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“…This is the first reported case in Perú, and in a Mestizo-Peruvian ethnic group, which consist in a population with Native-American and European ancestries [13]. Other countries in Latin America, such as Argentina and Chile, also have reported cases mainly associated with GCK-MODY, which seems to be frequent in our region [6,7,14]. It should be noted that not all countries in Latin-American have the same ethnic groups.…”

Section: Discussionmentioning

confidence: 50%

“…MODY is considered an infrequent disease, and it has been described in several populations and ethnic groups worldwide, more commonly in Europe and North America [1,5,7]. A recent publication about GCK-MODY in the US National Monogenic Diabetes Registry, shows that the majority of Registry participants with a GCK-MODY phenotype selfidentified as Caucasian and there was underrepresentation of a number of ethnic minorities when compared to the greater US population and ethnicity-specific diabetes rates [5].…”

Section: Discussionmentioning

confidence: 99%

“…To date, over 600 different GCK-MODY mutations have been reported and it has been described in the literature in a variety of ethnic groups, most of them in Europeans countries (Italy, France, United Kingdom and Spain, according to the literature) and in North America [1,3,[5][6][7]. There is little information about the frequency of MODY in Latin America, and it is lower when we try to find information in countries with © The Author(s).…”

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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“…A very young infant treated for neonatal asphyxiation and pulmonary hypertension having extreme neonatal hyperglycemia (831 mg/dL) resolving with temporary intravenous insulin illustrates that there are indeed circumstances where presentation is atypical. Follow-up at four months showing mild, stable hyperglycemia, a positive paternal family history, and genetic testing diagnosed GCK-MODY ( 3 ). These papers support stress hyperglycemia and a genetic defect both impacting clinical presentation, not simply incidental findings of GCK-MODY.…”

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confidence: 99%

Letter to the Editor: Stress Hyperglycemia or Glucokinase Maturity Onset Diabetes of the Young (GCK-MODY) or Both?

Doherty-Kirby¹

2023

Clin Pediatr Endocrinol

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Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico

Cited by 3 publications

References 6 publications

Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico

Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico

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

Letter to the Editor: Stress Hyperglycemia or Glucokinase Maturity Onset Diabetes of the Young (GCK-MODY) or Both?

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