X-Linked Recessive Nephrolithiasis with Renal Failure

To the Editor: The report by Frymoyer et al. (Sept. 5 issue) 1 was of great interest to us, because we have studied 23 patients, 20 of them from five families in which up to three generations are involved, and all the patients appear to have the same disease: a renal tubular syndrome with hypercalci...

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Veröffentlicht in:The New England journal of medicine 1992-04, Vol.326 (15), p.1029-1030
Hauptverfasser: Wrong, O, Norden, A G, Feest, T G
Format: Artikel
Sprache:eng
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Zusammenfassung:To the Editor: The report by Frymoyer et al. (Sept. 5 issue) 1 was of great interest to us, because we have studied 23 patients, 20 of them from five families in which up to three generations are involved, and all the patients appear to have the same disease: a renal tubular syndrome with hypercalciuria, phosphaturia, nephrocalcinosis, and progressive renal failure, with a marked predominance in males. 2 A possible difference between this condition and the one described by Frymoyer et al. is that our patients have microglobulinuria, which Frymoyer et al. do not mention. Other reports of families that appear . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJM199204093261516