title: Hereditary causes of kidney stones and chronic kidney disease.
abstract: Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition and knowledge of the five disorders has frequently resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. A high index of suspicion coupled with early diagnosis may reduce or even prevent the serious long-term complications of these diseases. In this paper, we review the epidemiology, clinical features, diagnosis, treatment, and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC, and PH, with an emphasis on childhood manifestations.
authors: The Rare Kidney Stone Consortium, Mayo Clinic, Rochester, MN, USA. vidare@landspitali.is
authors: Vidar O
authors: VO
authors: Edvardsson
authors: David S
authors: DS
authors: Goldfarb
authors: John C
authors: JC
authors: Lieske
authors: Lada
authors: L
authors: Beara-Lasic
authors: Franca
authors: F
authors: Anglani
authors: Dawn S
authors: DS
authors: Milliner
authors: Runolfur
authors: R
authors: Palsson
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D000818:Animals; D002648:Child; D003555:Cystinuria / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D057973:Dent Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D053565:Hypercalciuria / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D006960:Hyperoxaluria, Primary / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D007669:Kidney Calculi / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D009397:Nephrocalcinosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D011379:Prognosis; D051436:Renal Insufficiency, Chronic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D015499:Renal Tubular Transport, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D012307:Risk Factors; D052878:Urolithiasis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy
chemical_list: D000228:Adenine Phosphoribosyltransferase