X-linked recessive nephrolithiasis: Presentation and diagnosis in children - 09/09/11
Abstract |
We report a new X-linked recessive nephrolithiasis kindred. X-linked recessive nephrolithiasis is a recently described disease characterized by recurrent nephrolithiasis, nephrocalcinosis, and progressive renal failure, associated with mutations in a renal chloride channel gene, chloride channel number 5. Screening individuals at risk with renal ultrasonography and measurement of urinary excretion of low molecular weight proteins and calcium will exclude boys without X-linked recessive nephrolithiasis kindred and identify boys likely to have the disease. (J Pediatr 1998:132:859-62)
Le texte complet de cet article est disponible en PDF.Abbreviations : CLCN5, LMW, RBP, TmP-GFR, XRN
Plan
 | From the Department of Pediatrics, Division of Nephrology, University of South Florida College of Medicine and All Children's Hospital, St. Petersburg, Florida; the Department of Chemical Pathology, Chase Farm Hospital, Middlesex, United Kingdom; and the Department of Medicine, Division of Nephrology, SUNY Health Science Center, Syracuse, New York. |
| Supported in part by the Sir Jules Thorn Charitable Trust (Dr. Norden) and National Institute of Health RO1 award DK46838 (Dr. Scheinman). |
 | Reprint requests: Scott J. Schurman, MD, All Children's Hospital, 801 Sixth St. South, St. Petersburg, FL 33731. |
| 9/22/87382 |
Vol 132 - N° 5
P. 859-862 - mai 1998 Retour au numéro
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