Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22 |
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| Authors: | Pook, Mark A. Wrong, Oliver Wooding, Carol Norden, Anthony G.W. Feest, Terry G. Thakker, Rajesh V. |
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| Affiliation: | Molecular Medicine Group, MRC Clinical Sciences Centre, Royal Postgraduate Medical School Du Cane Road, London W12 DNN, UK 1Department of Nephrology, The Middlesex Hospital Mortimer Street, London W1N 8AA, UK 2Department of Chemical Pathology, Chase Farm Hospital Enfield, Middlesex, UK 3Richard Bright Renal Unit, Southmead Hospital Westbury-on-Trym, Bristol, UK |
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| Abstract: | Dent's disease is a familial proximal renal tubular disorderwhich is associated with low molecular weight proteinuria, hypercalcluria,nephrocalcinosis, kidney stones and renal failure. The modeof inheritance and the primary defect for this disorder areunknown. An analysis of 5 unrelated British families revealeda greater disease severity in males and an absence of male tomale transmission. This suggested an X-linked inheritance andwe Investigated this further by linkage studies In 33 members(12 affected, 21 unaffected) from two 3-generation families.Twenty X-linked polymorphic markers were used and linkage wasestablished with the Xp11 loci ARAFI, DXS426, DXS255 and DXS988with peak LOD scores and recombination fractions ( |
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