FAMILIAL DYSAUTONOMIA - STUDIES IN NEWBORN INFANT
FAMILIAL DYSAUTONOMIA - STUDIES IN NEWBORN INFANT
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DOI：
10.1056/nejm196408272710903
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发表时间：
1964-01-01
影响因子：
158.5
通讯作者：
GLUCK, L
中科院分区：
文献类型：
--
作者：
GELTZER, AI;POLESKY, HF;GLUCK, L
一个先天性自主神经功能障碍的情况下，没有家族史诊断的临床表现，在24小时的年龄和记录的简单筛选试验和色谱分析的前3周内的生活中的儿茶酚胺。重点是张力减退的临床表现，未能对疼痛做出反应，缺乏深腱反射，血管痉挛发作和新生儿期吸吮和吞咽协调不良。乙酰甲胆碱和组胺的筛查试验及香草扁桃酸和高香草酸的色谱分析可在出生后3周内确诊。家族研究表明没有生化杂合子状态，但显示存在色谱分析中观察到的尚未鉴定的物质。这表明，家族性自主神经功能障碍代表了一种状态的无能或不适当的肾上腺素生产所证明的胰岛素耐量试验。这些已被解释为显示外源性肾上腺素修复的再生障碍。倾斜床体位性低血压和相关的VMA排泄增加失败的证据增加了对自主神经功能障碍时生理性肾上腺素分泌不足的理论的支持。
A case of congenital dysautonomia without family history diagnosed by clinical presentation at 24 hours of age and documented by simple screening tests and chromatographic analysis of catechol amines within the first 3 weeks of life is presented. Emphasis was made of the clinical picture of hypotonia, failure to respond to pain, absent deep tendon reflexes, vasomotor episodes and poor co-ordination of suck and swallow in the newborn period. Evidence is presented that the screening tests of methacholine and histamine and the chromatogra-phic analysis of VMA [vanillylmandelic acid] and HVA [homovanillic acid] can be used to confirm the diagnosis during the first 3 weeks of life. Family studies demonstrated no biochemical heterozygote state but showed the presence of substances seen on chromatographic analysis as yet unidentified. It is suggested that familial dysautonomia represents a state of incompetent or inappropriate epinephrine production as demonstrated by insulin tolerance tests. These have been interpreted to show a failure of gluconeogenesis repaired by exogenous epinephrine. Tilt-table evidence of postural hypotension and associated failure to increase VMA excretion add support to the theory of physiologically incompetent epinephrine production in dysautonomia.