Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?

International Journal of Pediatric Endocrinology

Michael J Haller³  David W Kays²  Roberto T Zori¹  Charles A Williams¹  Laurie A Minarich³  Emmanuelle S Topiol³ 

[1] University of Florida, Department of Pediatrics, Division of Genetics, PO Box 100296, Gainesville, FL, 32610, USA;University of Florida, Department of Surgery, Division of Pediatric Surgery, PO Box 100119, Gainesville, FL, 32610, USA;University of Florida, Department of Pediatrics, Division of Endocrinology, PO Box 100296, Gainesville, FL, 32610, USA

关键词: Duplication;    Imprinting;    PLAGL1;    Congenital diaphragmatic hernia;    Neonatal diabetes mellitus;   

Others  :  813483
DOI  :  10.1186/1687-9856-2012-21

 received in 2012-05-09, accepted in 2012-07-10,  发布年份 2012

【 摘 要 】

Neonatal diabetes mellitus (NDM) is a rare metabolic disorder, affecting approximately 1 in 500,000 live births. The management of NDM is challenging, as the benefits of controlling hyperglycemia must be balanced with the risks of iatrogenic hypoglycemia. NDM occurs in both permanent and transient forms, which have been genetically and phenotypically well characterized. Herein, we present the previously unreported combination of transient NDM (TNDM) and congenital diaphragmatic hernia (CDH). In addition to reviewing the management and genetics of NDM we discuss the potential for overlapping genetic or embryologic abnormalities to explain the concurrence of CDH and NDM.

【 授权许可】

   
2012 Topiol et al.; licensee BioMed Central Ltd.

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