HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) All Versions of this Article: dc06-1744v1 30/6/1571    most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Liljeström, B. Articles by Kääriäinen, H. Search for Related Content PubMed PubMed Citation Articles by Liljeström, B. Articles by Kääriäinen, H. Social Bookmarking                What's this?

Adolescents at Risk for MODY3 Diabetes Prefer Genetic Testing Before Adulthood

¹ Research Program for Molecular Medicine, Folkhälsan Research Center, Helsinki University and Genetic Institute, Helsinki, Finland
² Department of Medicine, Helsinki University Hospital, Helsinki, Finland
³ Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland
⁴ Malmska Municipal Health Center and Hospital, Jakobstad, Finland
⁵ Department of Social Psychology, University of Helsinki, Helsinki, Finland
⁶ Department of Medical Genetics, University of Turku, Turku, Finland
⁷ Department of Paediatrics, Turku University Hospital, Turku, Finland

Address correspondence and reprint requests to Brita Liljeström, Botnia Study, B330b, Biomedicum Helsinki, P.O. Box 700, 00029 Helsinki, Finland. E-mail: brita.liljestrom@kuh.fi

Abbreviations: MODY, maturity-onset diabetes of the young

The first 20% of the full text of this article appears below.

	INTRODUCTION

 
Mutations in the hepatocyte nuclear factor (HNF)-1 gene cause an autosomally, dominantly inherited form of diabetes, maturity-onset diabetes of the young (MODY) type 3, which is characterized by poor insulin secretion in response to glucose together with good sensitivity to insulin and sulfonylurea medication and low renal threshold for glucose (1). The lifetime risk of diabetes may be as high as 95% for individuals carrying the most common Pro291fsinsC mutation. Glucose tolerance deteriorates in most cases during the pubertal years (2–5). However, because of fasting normoglycemia, clinical diagnosis is often delayed despite high postprandial glucose concentrations and an increased A1C value. Diabetes complications are common, and proliferative retinopathy has been detected already at diagnosis of diabetes in a 19-year-old carrier (6). On the other hand, while the incidence of diabetes among mutation carriers steeply increases in puberty, at least 20% remain nondiabetic until their 30s (2,4,5). Abnormal glucose tolerance in subjects at risk for MODY3 can be diagnosed with an oral glucose tolerance test. Urine glucose analysis after a large oral glucose load has also been advocated as a noninvasive screening tool in young children (7). Although an aberrant result from these tests has diagnostic value for diabetes and a certain predictive value in identification of probable carriers, they are not specific for MODY, and a normal result cannot exclude future risk. A genetic test seems to be warranted before adulthood, either to confirm carrier status in . . . [Full Text of this Article]

	RESEARCH DESIGN AND METHODS—

 

	RESULTS—

 

	CONCLUSIONS—

 

CiteULike    Del.icio.us    Digg    Reddit    Technorati    What's this?