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Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation
2009; Wiley; Volume: 11; Issue: 7 Linguagem: Inglês
10.1111/j.1399-5448.2009.00626.x
ISSN1399-5448
AutoresTeresa C. Vieira, Carla Sanchez Bergamin, Lucimary C. Gurgel, Regina S. Moisés,
Tópico(s)Diabetes Management and Research
ResumoPediatric DiabetesVolume 11, Issue 7 p. 505-508 Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation Teresa C Vieira, Corresponding Author Teresa C Vieira Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, BrazilTeresa C Vieira, MDDiscipline of EndocrinologyDepartment of MedicineEscola Paulista de MedicinaUniversidade Federal de São PauloRua Pedro de Toledo 91004039-002 São Paulo, SPBrazilTel: +55-11-5574-8432;fax: +55-11-3022-6227;e-mail: [email protected]Search for more papers by this authorCarla S Bergamin, Carla S Bergamin Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorLucimary C Gurgel, Lucimary C Gurgel Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorRegina S Moisés, Regina S Moisés Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, BrazilSearch for more papers by this author Teresa C Vieira, Corresponding Author Teresa C Vieira Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, BrazilTeresa C Vieira, MDDiscipline of EndocrinologyDepartment of MedicineEscola Paulista de MedicinaUniversidade Federal de São PauloRua Pedro de Toledo 91004039-002 São Paulo, SPBrazilTel: +55-11-5574-8432;fax: +55-11-3022-6227;e-mail: [email protected]Search for more papers by this authorCarla S Bergamin, Carla S Bergamin Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorLucimary C Gurgel, Lucimary C Gurgel Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, BrazilSearch for more papers by this authorRegina S Moisés, Regina S Moisés Division of Endocrinology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, BrazilSearch for more papers by this author First published: 23 December 2009 https://doi.org/10.1111/j.1399-5448.2009.00626.xCitations: 19Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract Vieira TC, Bergamin CS, Gurgel LC, Moisés RS. Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation. 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. References 1 Mathews PM, Young JM, Abu-Osba YK et al. Persistent neonatal hyperinsulinism. 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