title: Genetic defects underlying renal stone disease.
abstract: Renal stones are common and are usually secondary to risk factors affecting the solubility of substances in the urinary tract. Primary, that is genetic, causes are rare but nevertheless are important to recognise so that appropriate treatments can be instigated and the risks to other family members acknowledged. A brief overview of the investigation of renal stones from a biochemical point of view is presented with emphasis on the problems that can arise. The genetic basis of renal stone disease caused by (i) derangement of a metabolic pathway, (ii) diversion to an insoluble product, (iii) failure of transport and (iv) renal tubular acidosis is described by reference to the disorders of adenine phosphoribosyl transferase (APRT) deficiency, primary hyperoxaluria, cystinuria and autosomal dominant distal renal tubular acidosis.
authors.affiliation: Clinical Biochemistry, UCL Hospitals, 60 Whitfield St, London W1T 4EU, United Kingdom. Electronic address: gill.rumsby@nhs.net.
authors.forename: Gill
authors.initials: G
authors.lastname: Rumsby
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics; D000328:Adult; D020022:Genetic Predisposition to Disease; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000235:genetics; D007669:Kidney Calculi / Q000235:genetics* / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000235:genetics; D052878:Urolithiasis / Q000235:genetics
chemical_list: D000228:Adenine Phosphoribosyltransferase
keywords: APRT deficiency; Cystinuria; Distal renal tubular acidosis; Genetics; Hyperoxaluria; Stones