Dunnigan M G, Pelosi A J
Medical Division, Stobhill General Hospital, Glasgow.
Q J Med. 1993 May;86(5):301-13.
Idiopathic oedema has not been previously described in prepubertal children. Between 1977 and 1991, eighteen children (15 girls, three boys) from 13 unrelated kindreds presented with the clinical features of idiopathic oedema commencing between the neonatal period and 12 years. These comprised a triad of swelling, affective disturbance and functional autonomic symptoms. There was a family history of idiopathic oedema in 16 (89%) children, including all 15 girls, and of diabetes mellitus in 12 (67%) children, suggesting a major genetic basis for the syndrome. Laboratory investigations excluded cardiovascular, hypoproteinaemic, allergic and obstructive causes of oedema. Adherence to a restricted carbohydrate diet, the avoidance of refined carbohydrate and the correction of precipitating weight gain controlled symptoms in most children. Relapses followed dietary non-compliance and life-event stress. A neurotransmitter-based autonomic abnormality of vascular and visceral smooth muscle tone modulated by metabolic and neuroendocrine mechanisms provides a partial explanation for this syndrome. Insulin-mediated modulation of capillary permeability to water and electrolytes may also be involved. The pathogenesis, clinical features and management of paediatric idiopathic oedema may provide a model for the adult syndrome.
特发性水肿此前尚未在青春期前儿童中被描述。1977年至1991年间，来自13个无亲缘关系家族的18名儿童（15名女孩，3名男孩）出现了特发性水肿的临床特征，起病于新生儿期至12岁之间。这些特征包括肿胀、情感障碍和功能性自主神经症状三联征。16名（89%）儿童有特发性水肿家族史，其中包括所有15名女孩；12名（67%）儿童有糖尿病家族史，提示该综合征有主要的遗传基础。实验室检查排除了水肿的心血管、低蛋白血症、过敏和阻塞性病因。大多数儿童通过坚持限制碳水化合物饮食、避免精制碳水化合物以及纠正体重突然增加来控制症状。症状复发与饮食不依从和生活事件压力有关。由代谢和神经内分泌机制调节的基于神经递质的血管和内脏平滑肌张力自主神经异常可为该综合征提供部分解释。胰岛素介导的毛细血管对水和电解质通透性的调节可能也有涉及。儿童特发性水肿的发病机制、临床特征及治疗可为成人综合征提供一个模型。
