Document Detail


Diagnosis and treatment of neonatal diabetes: a United States experience.
MedLine Citation:
PMID:  18662362     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND/OBJECTIVE: Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months. The aim of this study was to identify the genetic cause of diabetes in 77 consecutive patients referred to the University of Chicago with diabetes diagnosed before 1 yr of age.
METHODS: We used Oragene DNA Self-Collection kit to obtain a saliva sample for DNA. We sequenced the protein-coding regions of KCNJ11, ABCC8, and INS using standard methods.
RESULTS: We enrolled 32 patients diagnosed with diabetes before 6 months of age and 45 patients diagnosed between 6 and 12 months. We identified a mutation in KCNJ11 in 14 patients from 12 families and in INS in 7 patients from 4 families. Three of the patients with an INS mutation were diagnosed with diabetes between 6 and 12 months of age. Finally, we found that two patients had an abnormality of chromosome 6q24 associated with transient neonatal diabetes mellitus.
CONCLUSIONS: We were able to establish a genetic cause of diabetes in 63% of patients diagnosed with diabetes before 6 months of age and in 7% of patients diagnosed between 6 and 12 months. Genetic testing, which is critical for guiding appropriate management, should be considered in patients diagnosed with diabetes before 1 yr of age, especially if they are autoantibody negative, although the presence of autoantibodies does not rule out a monogenic cause.
Authors:
Julie Støy; Siri Atma W Greeley; Veronica P Paz; Honggang Ye; Ashley N Pastore; Kinga B Skowron; Rebecca B Lipton; Fran R Cogen; Graeme I Bell; Louis H Philipson;
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2008-07-25
Journal Detail:
Title:  Pediatric diabetes     Volume:  9     ISSN:  1399-5448     ISO Abbreviation:  Pediatr Diabetes     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-10-06     Completed Date:  2008-11-25     Revised Date:  2014-09-09    
Medline Journal Info:
Nlm Unique ID:  100939345     Medline TA:  Pediatr Diabetes     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  450-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
ATP-Binding Cassette Transporters / genetics*
Adolescent
Adult
Child
Child, Preschool
Diabetes Complications
Diabetes Mellitus, Type 1 / drug therapy,  genetics*
Female
Glyburide / therapeutic use
Humans
Infant
Infant, Newborn
Insulin / genetics*,  therapeutic use
Learning Disorders / etiology
Male
Pedigree
Potassium Channels, Inwardly Rectifying / genetics*
Receptors, Drug / genetics*
Sulfonylurea Receptors
United States / epidemiology
Grant Support
ID/Acronym/Agency:
DK-20595/DK/NIDDK NIH HHS; DK-44752/DK/NIDDK NIH HHS; P60 DK020595/DK/NIDDK NIH HHS; P60 DK020595-309012/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/Insulin; 0/Kir6.2 channel; 0/Potassium Channels, Inwardly Rectifying; 0/Receptors, Drug; 0/Sulfonylurea Receptors; SX6K58TVWC/Glyburide
Investigator
Investigator/Affiliation:
J Atchison / ; S Day / ; D Edidin / ; A Perelman / ; M Swinyard / ; M Vaccarello-Cruz / ; S Wentworth / ; W P Zeller / ; W Zipf /
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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