Erfelijke ouderdomsdiabetes bij jongeren

Karin van der Tuin; Sabine E Hannema; E C A M Mieke Houdijk; Monique Losekoot; Eelco J P de Koning; Martijn H Breuning

Erfelijke ouderdomsdiabetes bij jongeren

Karin van der Tuin, Sabine E Hannema, E C A M Mieke Houdijk, Monique Losekoot, Eelco J P de Koning, Martijn H Breuning

Hubrecht Institute

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgave › Artikel › Wetenschappelijk › peer review

Samenvatting

Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes mellitus, estimated to account for approximately 1-4% of patients with diabetes. The predicted prevalence is, therefore, 20,000 patients in The Netherlands. Unfortunately less than 5% of these patients are confirmed by molecular genetic analysis. MODY is a clinically heterogeneous group of disorders caused by β-cell dysfunction, which is caused by mutations in multiple genes. MODY is characterized by an early onset of diabetes (often before the age of 30 years) and autosomal dominant inheritance. Patients do not usually require insulin at diagnosis. To emphasize the importance of genetic analysis we describe a 7-year-old boy and his siblings with MODY type 2. Molecular genetic testing is essential for individual patient care, as treatment options differ between the various forms of MODY; it also provides an opportunity to screen relatives.

Vertaalde titel van de bijdrage	Maturity-onset diabetes of the young
Originele taal-2	Nederlands
Pagina's (van-tot)	A9247
Tijdschrift	Nederlands Tijdschrift voor Geneeskunde
Volume	159
Status	Gepubliceerd - 2015

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title = "Erfelijke ouderdomsdiabetes bij jongeren",

abstract = "Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes mellitus, estimated to account for approximately 1-4% of patients with diabetes. The predicted prevalence is, therefore, 20,000 patients in The Netherlands. Unfortunately less than 5% of these patients are confirmed by molecular genetic analysis. MODY is a clinically heterogeneous group of disorders caused by β-cell dysfunction, which is caused by mutations in multiple genes. MODY is characterized by an early onset of diabetes (often before the age of 30 years) and autosomal dominant inheritance. Patients do not usually require insulin at diagnosis. To emphasize the importance of genetic analysis we describe a 7-year-old boy and his siblings with MODY type 2. Molecular genetic testing is essential for individual patient care, as treatment options differ between the various forms of MODY; it also provides an opportunity to screen relatives.",

author = "{van der Tuin}, Karin and Hannema, {Sabine E} and Houdijk, {E C A M Mieke} and Monique Losekoot and {de Koning}, {Eelco J P} and Breuning, {Martijn H}",

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T1 - Erfelijke ouderdomsdiabetes bij jongeren

AU - van der Tuin, Karin

AU - Hannema, Sabine E

AU - Houdijk, E C A M Mieke

AU - Losekoot, Monique

AU - de Koning, Eelco J P

AU - Breuning, Martijn H

PY - 2015

Y1 - 2015

N2 - Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes mellitus, estimated to account for approximately 1-4% of patients with diabetes. The predicted prevalence is, therefore, 20,000 patients in The Netherlands. Unfortunately less than 5% of these patients are confirmed by molecular genetic analysis. MODY is a clinically heterogeneous group of disorders caused by β-cell dysfunction, which is caused by mutations in multiple genes. MODY is characterized by an early onset of diabetes (often before the age of 30 years) and autosomal dominant inheritance. Patients do not usually require insulin at diagnosis. To emphasize the importance of genetic analysis we describe a 7-year-old boy and his siblings with MODY type 2. Molecular genetic testing is essential for individual patient care, as treatment options differ between the various forms of MODY; it also provides an opportunity to screen relatives.

AB - Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes mellitus, estimated to account for approximately 1-4% of patients with diabetes. The predicted prevalence is, therefore, 20,000 patients in The Netherlands. Unfortunately less than 5% of these patients are confirmed by molecular genetic analysis. MODY is a clinically heterogeneous group of disorders caused by β-cell dysfunction, which is caused by mutations in multiple genes. MODY is characterized by an early onset of diabetes (often before the age of 30 years) and autosomal dominant inheritance. Patients do not usually require insulin at diagnosis. To emphasize the importance of genetic analysis we describe a 7-year-old boy and his siblings with MODY type 2. Molecular genetic testing is essential for individual patient care, as treatment options differ between the various forms of MODY; it also provides an opportunity to screen relatives.

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C2 - 26374728

SN - 0028-2162

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SP - A9247

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

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Erfelijke ouderdomsdiabetes bij jongeren

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