异质性的持久hyperinsulinaemic低血糖。一系列的175例。

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de Lonlay P, Fournet JC, Touati G,谷鲁斯女士,马丁•维西维因C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC,拉博尔德K, Bellane-Chantelot C, Vassault, Rahier J, Junien C,布鲁F, Nihoul-Fekete C, Saudubray JM,罗伯特·JJ

异质性的持久hyperinsulinaemic低血糖。一系列的175例。

J Pediatr欧元。2002年1月,161 (1):37-48。

PubMed ID

11808879 (在PubMed

]

文摘

胰岛素过多是一种异构的障碍的特点是由于胰岛素的不当oversecretion严重的低血糖。175年一系列个人病人追究hyperinsulinaemic低血糖在过去的20年,我们复习临床表现、分子研究和治疗胰岛素过多的管理。有98 neonatal-onset病人,包括86个永久胰岛素过多和12瞬态形式,68年infancy-onset和9名儿童。Hyperammonaemia被发现在69个病人中有12个测试,4新生儿和8个婴儿。新生儿比婴儿临床更严重的影响。诊断infancy-onset胰岛素过多经常延迟,因为低血糖的深刻的低血糖和更好的公差较小。新生儿需要更高的利率比婴儿静脉输液葡萄糖维持正常的血糖水平(16毫克/公斤每分钟和每分钟12毫克/公斤)。只有16%的新生儿diazoxide-sensitive相比,66%的婴儿。新生儿与hyperammonaemia或瞬态diazoxide-sensitive胰岛素过多。大多数新生儿pancreatectomised而65%的婴儿是医学上治疗。 Among surgically-treated patients, 47% had a focal adenomatous hyperplasia (31 neonates and 13 infants) and 53% a diffuse form of hyperinsulinism (39 neonates and 11 infants). Diazoxide-responsiveness in the focal and diffuse forms did not differ in both neonates and infants; it depended only upon the age of onset of hypoglycaemia. One or two mutations, SUR1 or KIR6.2, were found in 41 of 73 neonates who were investigated and in 13/38 infants using polymerase chain reaction-single strand conformational polymorphism analysis of both genes. Almost all patients with SUR1 (38/41) or KIR6.2 (5/7) mutations were resistant to diazoxide. Ten patients with hyperinsulinism-hyperammonaemia syndrome had a mutation in the glutamate dehydrogenase gene (three neonates and seven infants) after reverse transcriptase-polymerase chain reaction and sequence analysis of cDNA. No mutation was found by polymerase chain reaction-single strand conformational polymorphism in the glucokinase gene. Eight of nine patients with childhood onset hyperinsulinism were treated surgically and histological examination confirmed an adenoma in each case. CONCLUSION: the clinical severity of hyperinsulinism varies mainly with age at onset of hypoglycaemia. The heterogeneity of hyperinsulinism has major consequences in terms of therapeutic outcome and genetic counselling.

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