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
2008
A Patient With Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation in SLC34A3
Page K, Bergwitz C, Jaureguiberry G, Harinarayan CV, Insogna K. A Patient With Hypophosphatemia, a Femoral Fracture, and Recurrent Kidney Stones: Report of a Novel Mutation in SLC34A3. Endocrine Practice 2008, 14: 869-874. PMID: 18996815, PMCID: PMC2773288, DOI: 10.4158/ep.14.7.869.Peer-Reviewed Original ResearchConceptsSLC34A3 geneClinical presentationNovel mutationsHistory of flank painMissense mutationsPatient's unusual clinical presentationUnusual clinical presentationPatient's clinical courseAtypical clinical presentationHereditary hypophosphatemic ricketsTreated with calcitriolRecurrent kidney stonesDisorder associated with mutationsGenomic DNA samplesStress fracturesSLC34A3 mutationsFlank painRecurrent nephrolithiasisInsufficiency fracturesClinical courseClinical improvementNaPi-IIcHypophosphatemic ricketsCompound heterozygotesGenetic analysis
1994
Dietary hypercalciuria in patients with calcium oxalate kidney stones
Burtis W, Gay L, Insogna K, Ellison A, Broadus A. Dietary hypercalciuria in patients with calcium oxalate kidney stones. American Journal Of Clinical Nutrition 1994, 60: 424-429. PMID: 8074077, DOI: 10.1093/ajcn/60.3.424.Peer-Reviewed Original ResearchConceptsCalcium excretionFree dietDietary hypercalciuriaKidney stonesUrinary calcium excretionHigh sodium intakeCalcium oxalate stonesHypercalciuric patientsSodium excretionUnselected patientsDietary sodiumSodium intakeDietary calciumDietary factorsDietary habitsPatientsHypercalciuriaExcretionOxalate stonesDietary proteinDietMultiple regression analysisCalciumStonesIntake
1993
Calcium and Kidney Stones
Burtis WJ, Broadus AE, Insogna KL. Calcium and Kidney Stones. New England Journal Of Medicine 1993, 329: 508-509. PMID: 8332168, DOI: 10.1056/nejm199308123290716.Peer-Reviewed Original Research
1989
Trichlormethiazide and Oral Phosphate Therapy in Patients with Absorptive Hypercalciuria
Insogna K, Ellison A, Burtis W, Sartori L, Lang R, Broadus A. Trichlormethiazide and Oral Phosphate Therapy in Patients with Absorptive Hypercalciuria. Journal Of Urology 1989, 141: 269-273. PMID: 2913343, DOI: 10.1016/s0022-5347(17)40737-3.Peer-Reviewed Original ResearchConceptsOral phosphate therapyDihydroxyvitamin D levelsAbsorptive hypercalciuriaUrinary calciumParathyroid functionPhosphate therapyPhosphate administrationD levelsOral phosphate administrationRenal phosphate thresholdTreatment urinary calciumStudy 36 patientsPre-treatment valuesTrichlormethiazide treatmentCalcium excretionDihydroxyvitamin DBiochemical abnormalitiesSecond drugPharmacological meansStudy subjectsHypercalciuriaPatientsTherapyPer cent decreaseTreatment
1987
Concerning the Pathogenesis of Idiopathic Hypercalciuria1
Broadus AE, Burtis WJ, Oren DA, Sartori L, Gay L, Ellison AF, Insogna KL. Concerning the Pathogenesis of Idiopathic Hypercalciuria1. Contributions To Nephrology 1987, 58: 127-136. PMID: 3691116, DOI: 10.1159/000414502.Books
1984
A Consideration of the Hormonal Basis and Phosphate Leak Hypothesis of Absorptive Hypercalciuria*
BROADUS A, INSOGNA K, LANG R, MALLETTE L, ORENLANG D, GERTNER J, KLIGER A, ELLISON A. A Consideration of the Hormonal Basis and Phosphate Leak Hypothesis of Absorptive Hypercalciuria*. The Journal Of Clinical Endocrinology & Metabolism 1984, 58: 161-169. PMID: 6546292, DOI: 10.1210/jcem-58-1-161.Peer-Reviewed Original ResearchConceptsAbsorptive hypercalciuriaNormal subjectsCalcium excretionOral calcium tolerance testCalcium tolerance testFractional calcium excretionRenal calcium leakRenal phosphate thresholdHypercalciuric patientsMild hypercalcemiaNephrogenous cAMPCalcium intakeDihydroxyvitamin DPathophysiological basisTolerance testPlasma concentrationsUrine collectionStone diseaseCalcium leakPatientsControl groupSevere patternSignificant negative correlationHormonal basisFindings 1