2014
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis. Journal Of The American Society Of Nephrology 2014, 25: 2366-2375. PMID: 24700880, PMCID: PMC4178443, DOI: 10.1681/asn.2013101085.Peer-Reviewed Original ResearchConceptsIdiopathic hypercalciuriaDecreased tubular reabsorption of phosphateIncreased risk of kidney stone formationSerum 1,25(OH)2 vitamin DTubular reabsorption of phosphateAssociated with kidney stonesVitamin D levelsSolute carrier family 34Renal phosphate wastingDecreased serum phosphateHereditary hypophosphatemic ricketsHealthy family membersReabsorption of phosphateRisk of kidney stone formationRickets/osteomalaciaDecreased tubular reabsorptionKidney stone formationSLC34A3 mutationsIndependent of genotypeMedullary nephrocalcinosisSerum phosphateVitamin DDependent phosphate cotransporterTubular reabsorptionD levels
2010
Rapid Correction of Bone Mass after Parathyroidectomy in an Adolescent with Primary Hyperparathyroidism
Vanstone MB, Udelsman RD, Cheng DW, Carpenter TO. Rapid Correction of Bone Mass after Parathyroidectomy in an Adolescent with Primary Hyperparathyroidism. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: e347-e350. PMID: 21106715, DOI: 10.1210/jc.2010-1723.Peer-Reviewed Original ResearchMeSH Keywords25-Hydroxyvitamin D 2Absorptiometry, PhotonAdenomaAdolescentBone and BonesBone DensityHumansHydronephrosisHyperparathyroidism, PrimaryKidneyKidney CalculiLithotripsyMalePainParathyroid NeoplasmsParathyroidectomyRadionuclide ImagingRadiopharmaceuticalsSpineTechnetium Tc 99m SestamibiTrabecular MeshworkUltrasonographyConceptsBone mineral densityPrimary hyperparathyroidismMineral densityElevated parathyroid hormone levelsLarge tertiary care centerDual-energy X-ray absorptiometryBiochemical evaluationEnergy X-ray absorptiometryDual-phase technetiumRight foot painParathyroid hormone levelsTertiary care centerDiagnosis of hyperparathyroidismTime of diagnosisMain outcome measurementsX-ray absorptiometryBone mineral contentFlank painFoot painGross hematuriaRenal ultrasonographyVague symptomatologyMale presentingThyroid bedOsteoporotic fractures
1986
Hereditary xanthinuria presenting in infancy with nephrolithiasis
Carpenter T, Lebowitz R, Nelson D, Bauer S. Hereditary xanthinuria presenting in infancy with nephrolithiasis. The Journal Of Pediatrics 1986, 109: 307-309. PMID: 3755469, DOI: 10.1016/s0022-3476(86)80391-2.Peer-Reviewed Original Research