The acute tubular injury is the most prevalent type of renal involvement followed by glomerular injury. The acute tubular injury is the most prevalent type of renal involvement followed by glomerular injury. Adenine phosphoribosyltransferase (APRT) deficiency is an autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. The kidneys and urinary tract system seem to be the only organs affected by APRT deficiency . The aprt gene located on chromosome 16q24 is about 2.6kb long and contains 5 exons . APRT deficiency is an under-recognized cause of kidney stones and crystalline nephropathy progressing over time to ESRD in a significant proportion of untreated individuals.
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Last date updated on September, 2014