Chua H L, Hewitt I K, Hobday J D
Aust Paediatr J. 1986 May;22(2):145-6. doi: 10.1111/j.1440-1754.1986.tb00208.x.
An infant with congenital renal salt-losing syndrome is reported. The importance of recognizing this rare disorder is emphasized because early detection, and treatment with sodium supplementation, results in marked growth improvement and may prevent volume depletion, electrolyte disturbance, and cardiovascular collapse. The clinical features and biochemical abnormalities seen in the congenital renal salt-losing syndrome are described. In this condition, natriuresis occurs in the face of normal renal and adrenal function and, as the child gets older, spontaneous resolution occurs. Other causes of hyponatraemia in infancy are discussed.
报道了一名患有先天性肾失盐综合征的婴儿。强调了认识这种罕见疾病的重要性，因为早期发现并用钠补充剂治疗可显著促进生长，并可预防容量耗竭、电解质紊乱和心血管衰竭。描述了先天性肾失盐综合征中所见的临床特征和生化异常。在这种情况下，尽管肾脏和肾上腺功能正常，但仍会出现尿钠增多，随着孩子年龄增长，会自发缓解。还讨论了婴儿期低钠血症的其他原因。
