患有环状（X）染色体的特纳综合征患者的高胰岛素血症性低血糖症
Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X).
作者信息
Cappella Michela, Graziani Vanna, Pragliola Antonella, Sensi Alberto, Hussain Khalid, Muratori Claudia, Marchetti Federico
机构信息
Department of Paediatrics, Santa Maria delle Croci Hospital, 48121 Ravenna, Italy.
Department of Clinical Pathology, Medical Genetics Unit, Pievesestina, 47522 Cesena, Italy.
出版信息
Case Rep Pediatr. 2015;2015:561974. doi: 10.1155/2015/561974. Epub 2015 Apr 29.
Abstract
Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent neurological insult. There are only three reported cases of HH associated with a mosaic, r(X) Turner syndrome. We report the four cases of an infant with a mosaic r(X) Turner genotype and HH responsive to diazoxide therapy.
摘要
高胰岛素血症性低血糖症（HH）是一组在临床、遗传和形态学上具有异质性的疾病，其特征是胰腺β细胞胰岛素分泌失调。HH既可以是先天性遗传性高胰岛素血症，也可以与代谢紊乱和综合征相关。对这些患者进行早期识别和精心管理对于预防神经损伤至关重要。仅有3例HH与嵌合型r(X)特纳综合征相关的报道。我们报告了4例具有嵌合型r(X)特纳基因型且对二氮嗪治疗有反应的HH婴儿病例。
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