| Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. | |
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MedLine Citation:
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PMID: 20042013 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital hyperinsulinism of infancy (CHI) is the most common cause of hypoglycemia in newborns and infants. Several molecular mechanisms are involved in the development of CHI, but the most common genetic defects are inactivating mutations of the ABCC8 or KCNJ11 genes. The classical treatment for CHI has been pancreatectomy that eventually leads to diabetes. More recently, conservative treatment has been attempted in some cases, with encouraging results. Whether or not the patients with heterozygous ABCC8 mutations submitted to conservative treatment may spontaneously develop type 2 diabetes in the long run, is a controversial issue. Here, we report a family carrying the dominant heterozygous germ line E1506K mutation in ABCC8 associated with persistent hypoglycemia in the newborn period and diabetes in adulthood. The mutation occurred as a de novo germ line mutation in the mother of the index patient. Her hypoglycemic symptoms as a child occurred after the fourth year of life and were very mild, but she developed glucose metabolism impairment in adulthood. On the other hand, in her daughter, the clinical manifestations of the disease occurred in the neonatal period and were more severe, leading to episodes of tonic-clonic seizures that were well controlled with octreotide or diazoxide. Our data corroborate the hypothesis that the dominant E1506K ABCC8 mutation, responsible for CHI, predisposes to the development of glucose intolerance and diabetes later in life. |
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Authors:
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Teresa C Vieira; Carla S Bergamin; Lucimary C Gurgel; Regina S Moisés |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric diabetes Volume: 11 ISSN: 1399-5448 ISO Abbreviation: Pediatr Diabetes Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-10-25 Completed Date: 2011-02-07 Revised Date: 2011-03-28 |
Medline Journal Info:
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Nlm Unique ID: 100939345 Medline TA: Pediatr Diabetes Country: Denmark |
Other Details:
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Languages: eng Pagination: 505-8 Citation Subset: IM |
Copyright Information:
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© 2009 John Wiley & Sons A/S. |
Affiliation:
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Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil. tcvieira@einstein.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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ATP-Binding Cassette Transporters
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genetics* Adult Child Diabetes Mellitus / genetics* Diabetes, Gestational / genetics* Diazoxide / therapeutic use Epilepsy, Tonic-Clonic / drug therapy, etiology*, genetics Female Humans Hypoglycemia / complications, genetics Infant, Newborn Octreotide / therapeutic use Persistent Hyperinsulinemia Hypoglycemia of Infancy / complications*, genetics Potassium Channels, Inwardly Rectifying / genetics* Pregnancy Receptors, Drug / genetics* |
| Chemical | |
Reg. No./Substance:
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0/ATP-Binding Cassette Transporters; 0/Potassium Channels, Inwardly Rectifying; 0/Receptors, Drug; 0/sulfonylurea receptor; 364-98-7/Diazoxide; 83150-76-9/Octreotide |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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