X-LINKED RECESSIVE NEPHROLITHIASIS - PRESENTATION AND DIAGNOSIS IN CHILDREN

We report a new X-linked recessive nephrolithiasis kindred. X-linked r ecessive 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 u ltrasonography and measurement of urinary excretion of low molecular w eight proteins and calcium will exclude boys without X-linked recessiv e nephrolithiasis kindred and identify boys likely to have the disease .