Clinical and molecular genetic characteristics of MODY1—3 cases in the Russian Federation as shown by NGS

Zubkova, N. V.; Анатольевна, Гиоева Олеся; Тихонович, Юлия Викторовна; Петров, Василий Михайлович; Васильев, Е. В.; Тимофеев, Алексей Валентинович; Тюльпаков, Анатолий Николаевич

doi:10.14341/probl2017636369-378

Cited by 6 publications

(7 citation statements)

References 22 publications

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“…In the same way, Al-Kandari et al, (15), who studied identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a Kuwait, reported that the mean age at diagnosis of diabetes was 10.02 (SD ± 5.85) years. Similarly, Zubkova et al, (19), reported that the median age of DM diagnosis in patients with MODY 3 was 10.6 years (0.1; 15 years). However, Zhao et al, (18), reported that age of DM diagnosis in their study was 20.3 years (95% CI: 18.3-22.2).…”

Section: Resultsmentioning

confidence: 79%

“…Similarly, Johansson et al, (20), reported that patients with MODY 3 presents without history of ketosis. While in the study by Zubkova et al, (19), At the disease onset, Three (15.8%) patients had classical signs of diabetes and high hyperglycemia had ketosis in onset. Ketosis is generally believed to be untypical of monogenic forms of DM.…”

Section: Resultsmentioning

confidence: 84%

“…Similarly, Corrales et al, (17) reported that all patients with MODY 2 & MODY 3 had family history of DM. However, Zhao et al, (18) who studied clinical Characteristics of Patients With HNF1-alpha MODY, reported that among the patients identified, 89.8% (95% CI: 54.1-98.5) had a family history of diabetes, and Zubkova et al, (19), included 312 patients (162 boys and 150 girls) aged 3 months to 25 years with suspected MODY, Twenty mutations were detected in the HNF1A gene (MODY3) in 19 (6.1%) probands. A hereditary history of DM was present in 15 (78.9%) families.…”

Section: Resultsmentioning

confidence: 99%

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Clinical Characters of Egyptian children with Maturity Onset of Diabetes Type 3

Hafez

2023

Aswan University Medical Journal

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Background: Maturity-onset diabetes of the young (MODY) is a type of monogenic diabetes. MODY3 is more frequent than previously thought. Aim and objectives detect clinical characteristics of cases of MODY 3 as regards to; age of disease onset, insulin dose, family history and complications in Egyptian children. Methods: This case control study was conducted on 20 cases and 10 controls. All subjects were subjected to full history taking, complete clinical examination and laboratory tests, including; C peptide assays, Glycosylated hemoglobin (HbA1c), Fasting and 2 hours postprandial blood sugar levels, Triglyceride, LDL cholesterol, Measurement of anti-bodies to glutamic acid decarboxylase (anti-GAD) and anti-islets antibodies. Results: All cases (100%) had a positive family history of DM. All cases were negative for Anti-Gad and Anti-Islet. The mean age on onset of DM was 11.08 ± 2.77 years, the mean duration of DM was 2.2 ± 0.16 years. Regarding complications; 10% had neuropathy. Regarding treatment; 5% of cases were treated by oral hypoglycemic, 15 % were treated by insulin and oral hypoglycemic drugs, 15% were managed by healthy life style and 65% of cases treated by insulin with a mean dose 0.34 ± 0.19. Conclusion we suggest that a thorough clinical evaluation, including a family history, phenotypic features, a response to diabetes-specific autoantibodies, and an assessment of endogenous insulin secretion, may be a more effective first step in identifying diabetic children who require genetic testing for MODY.

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Section: Resultsmentioning

confidence: 79%

Section: Resultsmentioning

confidence: 84%

Section: Resultsmentioning

confidence: 99%

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Clinical Characters of Egyptian children with Maturity Onset of Diabetes Type 3

Hafez

2023

Aswan University Medical Journal

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“…There are several subtypes of MODY-diabetes, of which MODY2 is the most common in Russia. As of 2021, 50 cases of neonatal diabetes mellitus (1 in 152,280) have been registered in Russia, a molecular genetic study has been performed, however, the prevalence of GCK in Russia remains largely uncertain due to the lack of nationwide screening for diabetes-associated autoantibodies and limited access to molecular genetic testing [7][8][9].…”

mentioning

confidence: 99%

“…MODY2 is milder than other subtypes and is characterized by an asymptomatic course, moderate fasting hyperglycemia, the average level of glycemia is determined in the range of 5.5-8.0 mmol/l, HbA1c often does not exceed the upper limit of normal [8,9]. Such features of the clinical picture in the vast majority of cases lead to erroneous diagnoses, which in turn predetermines an incorrect treatment strategy with negative consequences.…”

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confidence: 99%

Combination of type I diabetes mellitus and diabetes associated with GCK gene mutation: features of the clinical course in puberty

Cherkasova¹,

Pavlov²,

Sokolova³

et al. 2022

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This article discusses a clinical case of the manifestation of MODY2 diabetes, which complicated the course of type I diabetes mellitus in a patient of puberty. For 9 months, the dynamics of the patient’s condition was monitored, who was on inpatient treatment in the endocrinology department of the State Medical Institution of the Tambov City Hospital for the entire period of observation. The criteria for daily monitoring of the patient’s clinical condition were: blood glucose and glycated hemoglobin, the level of glucosuria, the concentration of ketone bodies in the blood and acetone in the urine. The patient underwent insulin therapy and infusion therapy. Despite the ongoing treatment, including, among other things, the treatment of complications of the underlying disease, by the 6th month the patient’s condition worsened to an extremely severe degree. Additional laboratory and instrumental diagnostic studies were conducted, including a molecular genetic study for diabetes typing, the results of which made it possible to determine the cause of the progressive course of type I diabetes mellitus, which was the clinical manifestation of MODY2 diabetes with the development of insulin tolerance against the background of hormonal adjustment of puberty. The problem of timely and accurate diagnosis, and, accordingly, correct treatment, of type I diabetes mellitus combined with MODY2 diabetes, remains urgent and serious, due to the difficulty of interpreting differential diagnostic criteria with progressive type I diabetes mellitus of childhood and adolescence, which in turn can lead to multiple complications, including fatal exodus.

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MODY caused by a mutation in the insulin gene

et al. 2022

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MODY10 is a rare subtype of MODY diabetes, which caused by heterozygous mutations in the insulin gene INS. There are single descriptions of families with MODY-INS or MODY10 in the literature, its clinical course is not well understood. We present a case of MODY10 in a boy with a history of diabetes mellitus (DM) in three generations (father and paternal grandmother). Proband was diagnosed with diabetes mellitus at the age of 7 years. The glycaemia at the onset of the diabetes was 10.2 mmol/l, HbA1c — 7.6%, islet cell autoantibodies (ICA), insulin autoantibodies (IAA), glutamic acid decarboxylase antibodies (GADA) and islet tyrosine phosphatase 2 (IA2) antibodies (IA2) were not detected. According to the results of the oral glucose tolerance test, fasting blood glucose was 6.5 mmol/l, in 120 minutes 10.3 mmol/l, which corresponded to the diagnosis of impaired glucose tolerance. Diet with restriction of easily digestible carbohydrates was recommended, than gliclazide was added to the therapy, which the proband received for 3 years. At the age of 10, a deterioration in the parameters of carbohydrate metabolism was noted, which insulin therapy was added. Examination at the age of 12 revealed a decrease in C-peptide secretion. The child’s father has a similar phenotype — slowly progressive disorders of carbohydrate metabolism from 6 years old, from 10 years old — insulin therapy. A genetic test was provided, in the child and his father was detected a previously undescribed heterozygous mutation in the INS p.C31W. Thus, in our clinical case, MODY10 was characterized by a milder course than T1DM, but eventually leading to the development of insulin demand, which distinguishes it from the most common forms of MODY. Currently, there is no specific therapy, and the detection of a mutation in the INS gene does not affect therapeutic tactics, however, a correct genetic diagnosis makes it possible to predict the course of diabetes and provide genetic counseling to the family.

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Clinical and molecular genetic characteristics of MODY1—3 cases in the Russian Federation as shown by NGS

Cited by 6 publications

References 22 publications

Clinical Characters of Egyptian children with Maturity Onset of Diabetes Type 3

Clinical Characters of Egyptian children with Maturity Onset of Diabetes Type 3

Combination of type I diabetes mellitus and diabetes associated with GCK gene mutation: features of the clinical course in puberty

MODY caused by a mutation in the insulin gene

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