Article
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.
Pediatrics - 1 Jul 2001
Jeck N, Reinalter S C, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth H W, Konrad M
Abstract excerpt
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:...
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