Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Fanconi-type hypophosphatemic rickets is a group of disorders caused by unspecific proximal tubular damage. Because the filtrated phosphate is reabsorbed in the proximal tubule almost all proximal tubular dysfunction is accompanied by hyperphosphaturia. Some of them are known to cause bone disease. Accompanying symptoms include the typical features of Fanconi syndrome including low-molecular-weight proteinuria, glucosuria, or proximal tubular acidosis.
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Bolino A et al. (1993) Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. 
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Lloyd SE et al. (1996) A common molecular basis for three inherited kidney stone diseases.
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Oudet C et al. (1997) A second family with XLRH displays the mutation S244L in the CLCN5 gene.
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None (1998) X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
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Gambaro G et al. (2004) Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.
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