Seyberth H W, Rascher W, Schweer H, Kühl P G, Mehls O, Schärer K
J Pediatr. 1985 Nov;107(5):694-701. doi: 10.1016/s0022-3476(85)80395-4.
A congenital hypokalemic tubular disorder is described with many features resembling Bartter syndrome. Additional features include prenatal onset with polyhydramnios and premature labor; failure to thrive; episodes of fever, vomiting, diarrhea, and renal electrolyte and water wastage; hypercalciuria; nephrocalcinosis; and osteopenia. Unlike Bartter syndrome, there is no defect in tubular reabsorption of chloride. Urinary levels of prostaglandin E2 and 7 alpha-hydroxy-5,11-diketotetranorprosta-1,16-dioic acid are selectively elevated, indicating marked stimulation of renal and systemic PGE2 production. Chronic suppression of PGE2 activity by indomethacin corrects most of the abnormalities, and there is an immediate decompensation of the disease on indomethacin withdrawal. We conclude that these preterm infants have a distinct variety of hypokalemic tubular disorders rather than a variant of Bartter syndrome, because renal and systemic hyperprostaglandinism ranks high in the pathogenic chain of events, and the suppression of PGE2 hyperactivity is associated with significant improvement in the development (and probably in the prognosis) of the affected children.
描述了一种先天性低钾性肾小管疾病，其许多特征与巴特综合征相似。其他特征包括产前发病伴羊水过多和早产；生长发育迟缓；发热、呕吐、腹泻以及肾电解质和水分流失发作；高钙尿症；肾钙质沉着症；以及骨质减少。与巴特综合征不同，肾小管对氯的重吸收没有缺陷。尿中前列腺素E2和7α-羟基-5,11-二酮四去甲前列腺-1,16-二酸水平选择性升高，表明肾脏和全身PGE2生成受到显著刺激。吲哚美辛对PGE2活性的慢性抑制纠正了大部分异常，停用吲哚美辛后疾病会立即失代偿。我们得出结论，这些早产儿患有一种独特的低钾性肾小管疾病，而非巴特综合征的一种变体，因为肾脏和全身前列腺素过多症在致病事件链中占重要地位，抑制PGE2活性亢进与受影响儿童的发育（可能还有预后）显著改善相关。
