Fricker H, Frey K, Vallotton M B, Gugler E
Helv Paediatr Acta. 1975 May;30(1):61-77.
A 5-year-old boy is presented who exhibited the classical symptoms of the syndrome described by BARTTER et al. in 1962: growth retardation, hypokalemic alkalosis, hyperplasia of the juxtaglomerular apparatus with normotensive hyperreninism-hyperaldosteronism, polydipsia with impaired renal concentration ability resistant to pitressin. In addition, the patient showed the typical proximal tubular defects of the Fanconi syndrome: hyperphosphaturia with hypophosphatemic ricktts, generalized hyperaminoaciduria, proteinuria and glucosuria. In the cases of Bartter's syndrome described to date, no uniform pathogenetic mechanism could be identified. Proximal tubular salt wasting generally is assumed to be the primary defect. The studies carried out in this case support this hypothesis and indicate that the complete clinical picture of Bartter's syndrome may occur within the framework of multiple proximal tubular defects.
现报告一名5岁男孩，其表现出1962年由巴特尔等人描述的该综合征的典型症状：生长发育迟缓、低钾性碱中毒、肾小球旁器增生伴血压正常的高肾素血症-高醛固酮血症、烦渴伴对加压素抵抗的肾浓缩功能受损。此外，该患者还表现出范科尼综合征典型的近端肾小管缺陷：高磷尿伴低磷血症性佝偻病、全身性高氨基酸尿、蛋白尿和糖尿。在迄今为止描述的巴特综合征病例中，尚未确定统一的发病机制。一般认为近端肾小管失盐是主要缺陷。本病例所进行的研究支持这一假设，并表明巴特综合征的完整临床表现可能在多个近端肾小管缺陷的框架内出现。
