2019
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
Zhang C, Zhao Z, Sun Y, Xu L, JiaJue R, Cui L, Pang Q, Jiang Y, Li M, Wang O, He X, He S, Nie M, Xing X, Meng X, Zhou X, Yan L, Kaplan JM, Insogna KL, Xia W. Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia. Bone 2019, 121: 212-220. PMID: 30682568, DOI: 10.1016/j.bone.2019.01.021.Peer-Reviewed Original ResearchAdolescentAdultChildChild, PreschoolChinaFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Association StudiesHumansInfantMaleMiddle AgedMutationPHEX Phosphate Regulating Neutral EndopeptidasePoint MutationRetrospective StudiesSex CharacteristicsYoung Adult
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
1994
Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia
Carpenter TO, Mitnick MA, Ellison A, Smith C, Insogna KL. Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 1994, 78: 1378-1383. PMID: 8200940, DOI: 10.1210/jcem.78.6.8200940.Peer-Reviewed Original ResearchConceptsHypophosphatemic ricketsFrequency of hyperparathyroidismMean iPTH valueNephrogenous cAMP excretionPathogenesis of nephrocalcinosisInitiation of therapyVitamin D preparationsGroup of patientsOnset of treatmentExaggerated secretionParathyroid statusIPTH valuesTertiary hyperparathyroidismParathyroid functionUntreated patientsOccasional complicationCAMP excretionHyperparathyroidismPhosphopenic ricketsD preparationsPatientsControl individualsRicketsIntact hormoneNocturnal rise