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Literature DB >> 31493099

How can maturity-onset diabetes of the young be identified among more common diabetes subtypes?

Jana Urbanova¹, Ludmila Brunerova², Jan Broz³.

Abstract

Maturity onset diabetes of the young (MODY) represents a diabetes type which has an enormous clinical impact. It significantly alters treatment, refines a patient's prognosis and enables early detection of diabetes in relatives. Nevertheless, when diabetes is manifested the vast majority of MODY patients are not correctly diagnosed, but mostly falsely included among patients with type 1 or type 2 diabetes, in many cases permanently. The aim of this article is to offer a simple and comprehensible guide for recognizing individuals with MODY hidden among adult patients with another type of long-term diabetes and in women with gestational diabetes.

Entities: Disease Species

Keywords: Differential diagnosis; Gestational diabetes; MODY; Type 1 diabetes mellitus; Type 2 diabetes mellitus

Mesh：

Year: 2019 PMID： 31493099 DOI： 10.1007/s00508-019-01543-6

Source DB: PubMed Journal: Wien Klin Wochenschr ISSN： 0043-5325 Impact factor: 1.704

49 in total

1. Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.

Authors: E L Edghill; C Bingham; A S Slingerland; J A L Minton; C Noordam; S Ellard; A T Hattersley
Journal: Diabet Med Date: 2006-12 Impact factor: 4.359

2. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

Authors: Helge Raeder; Stefan Johansson; Pål I Holm; Ingfrid S Haldorsen; Eric Mas; Véronique Sbarra; Ingrid Nermoen; Stig A Eide; Louise Grevle; Lise Bjørkhaug; Jørn V Sagen; Lage Aksnes; Oddmund Søvik; Dominique Lombardo; Anders Molven; Pål Rasmus Njølstad
Journal: Nat Genet Date: 2005-12-20 Impact factor: 38.330

3. High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.

Authors: N Tonooka; H Tomura; Y Takahashi; K Onigata; N Kikuchi; Y Horikawa; M Mori; J Takeda
Journal: Diabetologia Date: 2002-11-16 Impact factor: 10.122

4. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.

Authors: M T Malecki; U S Jhala; A Antonellis; L Fields; A Doria; T Orban; M Saad; J H Warram; M Montminy; A S Krolewski
Journal: Nat Genet Date: 1999-11 Impact factor: 38.330

5. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes.

Authors: E R Pearson; W G Liddell; M Shepherd; R J Corrall; A T Hattersley
Journal: Diabet Med Date: 2000-07 Impact factor: 4.359

Review 6. The rise and fall of insulin secretion in type 1 diabetes mellitus.

Authors: E B Tsai; N A Sherry; J P Palmer; K C Herold
Journal: Diabetologia Date: 2006-01-11 Impact factor: 10.122

7. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations.

Authors: Ewan R Pearson; Michael K Badman; Christopher R Lockwood; Penelope M Clark; Sian Ellard; Coralie Bingham; Andrew T Hattersley
Journal: Diabetes Care Date: 2004-05 Impact factor: 19.112

8. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.

Authors: Bernadette Neve; Martin E Fernandez-Zapico; Vered Ashkenazi-Katalan; Christian Dina; Yasmin H Hamid; Erik Joly; Emmanuel Vaillant; Yamina Benmezroua; Emmanuelle Durand; Nicolas Bakaher; Valerie Delannoy; Martine Vaxillaire; Tiffany Cook; Geesje M Dallinga-Thie; Hans Jansen; Marie-Aline Charles; Karine Clément; Pilar Galan; Serge Hercberg; Nicole Helbecque; Guillaume Charpentier; Marc Prentki; Torben Hansen; Oluf Pedersen; Raul Urrutia; Danielle Melloul; Philippe Froguel
Journal: Proc Natl Acad Sci U S A Date: 2005-03-17 Impact factor: 11.205

How can maturity-onset diabetes of the young be identified among more common diabetes subtypes?

1. Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.

2. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

3. High frequency of mutations in the HNF-1alpha gene in non-obese patients with diabetes of youth in Japanese and identification of a case of digenic inheritance.

4. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.

5. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes.

Review 6. The rise and fall of insulin secretion in type 1 diabetes mellitus.

7. Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations.

8. Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.

9. The genetic abnormality in the beta cell determines the response to an oral glucose load.

Review 10. Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.

Review 1. Update on clinical screening of maturity-onset diabetes of the young (MODY).

Review 2. Biomarkers: Tools for Discriminating MODY from Other Diabetic Subtypes.