Substantial proportion of <scp>MODY</scp> among multiplex families participating in a Type 1 diabetes prediction programme

Petruželková, Lenka; Dušátková, Petra; Cinek, Ondřej; Šumnı́k, Zdenĕk; Průhová, Štěpánka; Hradský, Ondřej; Včeláková, Jana; Lebl, Jan; Koloušková, Stanislava

doi:10.1111/dme.13043

Cited by 10 publications

(6 citation statements)

References 19 publications

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“…This study confirms that cases of MODY can be misdiagnosed as type 1 diabetes in line with previous reports [32, 36]. Two mutations were found, both of which have been reported previously, one in each of two subjects; the HNF4A gene (A45L; Patient 1 in Table 1) and the HNF1B gene (R165H; Patient 2 in Table 1) were identified in two of 23 patients (8.7%) with a disease duration of 3 years or greater and UCPCR ≥0.2 nmol/mmol.…”

Section: Discussionsupporting

confidence: 93%

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Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

et al. 2018

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Background/Aims: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing. Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years. Those with a UCPCR ≥0.2 nmol/mmol were selected for genetic analysis of the Glucokinase (GCK), Hepatocyte nuclear factor 1a (HNF1A), Hepatocyte nuclear factor 4a (HNF4A), and Hepatocyte nuclear factor 1b (HNF1B) genes. This UCPCR cut-off was used because of the reported high sensitivity and specificity. Cases were also evaluated using a MODY probability calculator. Results: Twenty-three patients from 152 participants (15.1%) had a UCPCR indicating persistent insulin reserve. The mean age ± SD of the patients was 13.6 ± 3.6 years (range 8.30–21.6). Of these 23, two (8.7%) were found to have a mutation, one with HNF4A and one with HNF1B mutation. No mutations were detected in the GCK or HNF1A genes. Conclusion: In Turkish children with a diagnosis of T1D but who have persistent insulin reserve 3 years after diagnosis, up to 9% may have a genetic mutation indicating a diagnosis of MODY.

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Section: Discussionsupporting

confidence: 93%

“…A predictive model for identifying MODY cases among patients initially diagnosed with type 1 diabetes was reported in the Czech Republic in 2016 [36]. Of 557 cases, 53 families with two or more individuals diagnosed with diabetes were selected for GCK , HNF1A , HNF4A , and INS gene analysis.…”

Section: Discussionmentioning

confidence: 99%

Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

et al. 2018

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“…MODY se mimo jiné může s vysokou pravděpodobností skrývat mezi rodinami s anamnézou DM1T, jež mají 2 a více rodinných příslušníků s diabetem, zejména manifestuje-li se v pozdějším věku spolu s nízkým HbA 1c [41].…”

Section: Mody a Těhotenstvíunclassified

Diagnosis of MODY - brief overview for clinical practice

Urbanová¹,

Brunerová²,

Brož³

2018

Vnitr Lek

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Interní klinika 2. LF UK a FN Motol, Praha SouhrnMaturity Onset Diabetes of the Young (MODY) představuje souhrnné označení pro dědičné typy diabetes mellitus způsobené mutací v některém z genů podílejících se na vývoji, diferenciaci a funkci B-buněk. Velká část pacientů s MODY doposud není správně diagnostikovaných, většinou jsou chybně vedeni pod diagnózou diabetes mellitus 1. či 2. typu. Správné stanovení diagnózy MODY má ovšem pro pacienty značný význam, neboť umožňuje individualizovat léčbu, odhadnout prognózu a včasně zachytit diabetes mezi příbuznými pacienta. Identifikovat jedince s MODY nemusí být snadné, jelikož klinický obraz MODY je variabilní a může se prolínat s klinickým obrazem jiných typů diabetes mellitus. V tomto článku popisujeme charakteristický klinický obraz nejčastějších typů MODY, shrnujeme současné diagnostické postupy při průkazu MODY a upozorňujeme na otázku možné potřebnosti rozšíření současných klinických kritérií indikujících pacienta k molekulárně genetickému vyšetření. Klíčová slova: diagnostika -diferenciální diagnostika -glukokináza -hepatocytární nukleární faktory -klinický obraz Diagnosis of MODY -brief overview for clinical practice SummaryMaturity Onset Diabetes of the Young (MODY) comprises inherited forms of diabetes mellitus caused by the mutations in the genes involved in the development, differentiation and function of beta-cells. The majority of patients with MODY remains misdiagnosed and erroneously classified as type 1 or type 2 diabetic patients. Correct MODY diagnosis is, however, essential since it enables individualization of treatment, assessment of the prognosis and identification of diabetes among patient´s relatives. Clinical presentation of MODY is highly variable and it could resemble other types of diabetes, thus identification of MODY patients might be difficult. In this review, we describe typical clinical presentation of the most common MODY subtypes, we summarize current diagnostic guidelines in confirmation of MODY and we raise the question of possible need for extension of current clinical criteria indicating a patient for molecular-genetic testing.

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“…Patients who have two or more family members with diabetes may have MODY in up to 45% of cases [28].…”

Section: Mody Features and Diagnosismentioning

confidence: 99%

Maturity onset diabetes of the young: Diagnosis and treatment options

Covanţev¹,

Chiriac²,

Perciuleac³

et al. 2016

Russ. Open Med. J.

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Diabetes is a complicated disease, so multiple factors are involved in its development. Nevertheless some of the patients with type 1 and 2 diabetes mellitus have a monogenic form of this disease which has different treatment options and usually fewer complications. It is estimated that about 5% of patients with type 2 diabetes melitus (T2DM) and about 10% of type 1 diabetes melitus (T1DM) are misdiagnosed and have maturity onset diabetes of the young (MODY). We present a review study of the management of most frequent monogenic forms of diabetes such as MODY 1, 2 and 3 and the possibilities of their diagnosis including in resource limited situations.

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Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme

Abstract: A prediction programme for Type 1 diabetes would provide a useful new source of patients with MODY most likely to benefit from an accurate diagnosis. This identification has implications for patient treatment and disease prognosis.

Cited by 10 publications

References 19 publications

Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

Diagnosis of MODY - brief overview for clinical practice

Maturity onset diabetes of the young: Diagnosis and treatment options

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