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先天性中枢性低通气综合征伴低血糖症。

Congenital central hypoventilation syndrome and hypoglycaemia.

机构信息

Pediatric Pain and Palliative Care Service, Department of Pediatrics, University of Padua, Italy.

出版信息

Acta Paediatr. 2012 Feb;101(2):e92-6. doi: 10.1111/j.1651-2227.2011.02533.x.

Abstract

UNLABELLED

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder typically presenting in infants with an impaired automatic control of breathing, particularly during sleep, and often associated with variable patterns of autonomic nervous system dysregulations. We studied three children who had CCHS associated with episodes of severe hypoglycaemia and hyperinsulinaemia; we discuss the possible relationship with impaired dopamine-beta-hydroxylase function.

CONCLUSION

Hypoglycaemia and hyperinsulinaemia might be suspected in children with CCHS presenting with seizures and hyperhydrosis; though, further studies are needed to confirm this association.

摘要

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先天性中枢通气不足综合征(CCHS)是一种罕见的遗传疾病,通常在婴儿中表现为呼吸自动控制受损,特别是在睡眠期间,并且常伴有自主神经系统失调的各种模式。我们研究了三个患有 CCHS 并伴有严重低血糖和高胰岛素血症发作的儿童;我们讨论了与多巴胺-β-羟化酶功能受损的可能关系。

结论

在表现出癫痫发作和多汗的 CCHS 儿童中,可能会怀疑低血糖和高胰岛素血症;尽管如此,还需要进一步的研究来证实这种关联。

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