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dc.contributor.authorEdvardsson, Vidar O
dc.contributor.authorGoldfarb, David S
dc.contributor.authorLieske, John C
dc.contributor.authorBeara-Lasic, Lada
dc.contributor.authorAnglani, Franca
dc.contributor.authorMilliner, Dawn S
dc.contributor.authorPalsson, Runolfur
dc.date.accessioned2014-05-16T12:06:25Z
dc.date.available2014-05-16T12:06:25Z
dc.date.issued2013-10
dc.date.submitted2013
dc.identifier.citationPediatr. Nephrol. 2013, 28 (10):1923-42en
dc.identifier.issn1432-198X
dc.identifier.pmid23334384
dc.identifier.doi10.1007/s00467-012-2329-z
dc.identifier.urihttp://hdl.handle.net/2336/317058
dc.descriptionTo access publisher's full text version of this article. Please click on the hyperlink in Additional Links field.en
dc.description.abstractAdenine 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.
dc.description.sponsorshipRare Kidney Stone Consortium, a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network/ (RDCRN) U54KD083908 NIDDK NIH Office of Rare Diseases Research (ORDR) Mayo Clinic O'Brien Urology Research Center/ P50 DK083007en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttp://dx.doi.org/10.1007/s00467-012-2329-zen
dc.rightsArchived with thanks to Pediatric nephrology (Berlin, Germany)en
dc.subjectNýrnasteinaren
dc.subjectBörnen
dc.subject.meshAdenine Phosphoribosyltransferaseen
dc.subject.meshAnimalsen
dc.subject.meshChilden
dc.subject.meshCystinuriaen
dc.subject.meshDent Diseaseen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHeredityen
dc.subject.meshHumansen
dc.subject.meshHypercalciuriaen
dc.subject.meshHyperoxaluria, Primaryen
dc.subject.meshKidney Calculien
dc.subject.meshMetabolism, Inborn Errorsen
dc.subject.meshNephrocalcinosisen
dc.subject.meshPhenotypeen
dc.subject.meshPrognosisen
dc.subject.meshRenal Insufficiency, Chronicen
dc.subject.meshRenal Tubular Transport, Inborn Errorsen
dc.subject.meshRisk Factorsen
dc.subject.meshUrolithiasisen
dc.titleHereditary causes of kidney stones and chronic kidney disease.en
dc.typeArticleen
dc.contributor.departmentMayo Clin, Rare Kidney Stone Consortium, Rochester, MN USA, Landspitali, Childrens Med Ctr, Reykjavik, Iceland, Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland, NY Harbor VA Med Ctr, Nephrol Sect, New York, NY USA, NYU Sch Med, Div Nephrol, New York, NY USA, Univ Padua, Dept Med, Div Nephrol, Padua, Italy, Mayo Clin, Div Nephrol & Hypertens, Dept Internal Med, Rochester, MN USA, Renal Funct Lab, Rochester, MN USA, Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA, Mayo Clin, Div Nephrol, Dept Pediat, Hyperoxaluria Ctr, Rochester, MN USA, Mayo Clin, Div Nephrol, Dept Internal Med, Hyperoxaluria Ctr, Rochester, MN USA, Landspitali, Div Nephrol, Internal Med Serv, Reykjavik, Icelanden
dc.identifier.journalPediatric nephrology (Berlin, Germany)en
dc.rights.accessLandspitali Access - LSH-aðganguren
html.description.abstractAdenine 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.


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