Leave no "stone" unturned: understanding the genetic bases of calcium-containing urinary stones in children.
Urinary stones in children are being recognized with increasing frequency. Formerly thought to be the result of dehydration, urinary obstruction, or infection, most urinary calculi in children now are recognized to have an underlying metabolic abnormality. A number of challenges face pediatricians in evaluating and treating children with urinary stone disease. Often the clinical symptomatology is nonspecific and lacks the excruciating renal colic seen in adults. Furthermore, diagnostic clinical laboratory values vary with age and must be differentiated from normal values reported for adult patients. Both environmental and genetic factors are responsible for urinary stones. Many stones have a hereditary basis. Exciting new information is developing about the genetic propensity for urinary stones. Current medical therapies attempt either to reduce the production of a lithogenic solute or to increase urinary solubility. New therapies for prevention and treatment of urinary stone disease are likely to evolve as our understanding of the pathogenesis of these conditions grows.
Thomas
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University of Michigan Medical Center, Ann Arbor, USA.
Stapleton
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D000328:Adult; D000367:Age Factors; D002118:Calcium / Q000378:metabolism / Q000652:urine*; D002129:Calcium Oxalate / Q000652:urine; D002648:Child; D003555:Cystinuria / Q000175:diagnosis; D003937:Diagnosis, Differential; D004032:Diet / Q000009:adverse effects; D006801:Humans; D006959:Hyperoxaluria / Q000175:diagnosis / Q000503:physiopathology; D014527:Uric Acid / Q000378:metabolism; D014545:Urinary Calculi / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy
D002129:Calcium Oxalate; D014527:Uric Acid; D002118:Calcium