新生儿糖尿病与先天性膈疝：巧合还是病因相关？
Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
作者信息
Topiol Emmanuelle S, Minarich Laurie A, Williams Charles A, Zori Roberto T, Kays David W, Haller Michael J
机构信息
University of Florida, Department of Pediatrics, Division of Endocrinology, PO Box 100296, Gainesville, FL, 32610, USA.
出版信息
Int J Pediatr Endocrinol. 2012 Jul 10;2012(1):21. doi: 10.1186/1687-9856-2012-21.
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.
新生儿糖尿病（NDM）是一种罕见的代谢紊乱疾病，每50万例活产儿中约有1例受其影响。NDM的管理颇具挑战性，因为控制高血糖的益处必须与医源性低血糖的风险相平衡。NDM有永久性和暂时性两种形式，其遗传学和表型特征均已明确。在此，我们报告了暂时性NDM（TNDM）与先天性膈疝（CDH）这一此前未报道的组合病例。除了回顾NDM的管理和遗传学，我们还讨论了存在重叠的遗传或胚胎学异常以解释CDH和NDM并发的可能性。
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