Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness
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DOI：
10.1542/peds.108.1.e5
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发表时间：
2001-07-01
期刊：
影响因子：
8
通讯作者：
Konrad, M
中科院分区：
文献类型：
--
作者：
Jeck, N;Reinalter, SC;Konrad, M
Objective.目的探讨一种罕见的遗传性低钾性失盐性肾小管病的特征，并与染色体1 p31连锁。我们对7例患者的临床资料进行了回顾性分析，在这些患者中，已经证实了该疾病与染色体1 p31的共分离。此外，在1个家系中，产前诊断的第二个孩子，建立了前瞻性的临床评价。患者的临床表现是同质的，包括羊水过多引起的早产、严重的肾性盐丢失、血压正常的高肾素血症、低钾血症和过量的高前列腺素E尿，这表明诊断为高前列腺素E综合征/产前Bartter综合征。然而，对吲哚美辛的反应很差，这是一种更严重的疾病。这些患者无一例外地发展为慢性肾衰竭。大多数人生长极度迟缓，运动发育明显延迟。此外，所有患者均经病理证实。低钾性失盐性肾小管病变伴慢性肾功能衰竭和感音神经性耳聋不仅在遗传上而且在临床上代表了一种不同于高前列腺素E综合征/产前Bartter综合征的疾病实体。单基因缺陷的多效性效应最有可能导致综合征性听力损失。
Objective. To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31.Methods. We conducted a retrospective analysis of the clinical data for 7 patients in whom cosegregation of the disease with chromosome 1p31 had been demonstrated. In addition, in 1 kindred, prenatal diagnosis in the second child was established, allowing a prospective clinical evaluation.Results. Clinical presentation of the patients was homogeneous and included premature birth attributable to polyhydramnios, severe renal salt loss, normotensive hyperreninemia, hypokalemic alkalosis, and excessive hyperprostaglandin E-uria, which suggested the diagnosis of hyperprostaglandin E syndrome/antenatal Bartter syndrome. However, the response to indomethacin was only poor, accounting for a more severe variant of the disease. The patients invariably developed chronic renal failure. The majority had extreme growth retardation, and motor development was markedly delayed. In addition, all patients turned out to be deaf.Conclusion. The hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness represents not only genetically but also clinically a disease entity distinct from hyperprostaglandin E syndrome/antenatal Bartter syndrome. A pleiotropic effect of a single gene defect is most likely causative for syndromic hearing loss.