2012
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred
Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred. Bone 2012, 50: 1100-1106. PMID: 22387237, PMCID: PMC3322249, DOI: 10.1016/j.bone.2012.02.015.Peer-Reviewed Original ResearchConceptsVitamin D levelsIdiopathic hypercalciuriaKindred APTH levelsD levelsLong-term follow-upBilateral medullary nephrocalcinosisMild bone abnormalitiesSuppressed PTH levelsMutation c.Hereditary hypophosphatemic ricketsRenal phosphate-wastingRickets/osteomalaciaAssess treatment efficacyCompound heterozygous mutationsHHRH patientsKindred BKindred CSLC34A3 mutationsOral phosphateHeterozygous c.Medullary nephrocalcinosisHeterozygous mutationsNaPi-IIcHypercalciuria
2011
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation
Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi‐IIc mutation. American Journal Of Medical Genetics Part A 2011, 155: 626-633. PMID: 21344632, PMCID: PMC4777326, DOI: 10.1002/ajmg.a.33832.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceChild, PreschoolFamilial Hypophosphatemic RicketsFemaleHumansHypercalciuriaInfantInfant, NewbornMaleMolecular Sequence DataMutationNephrolithiasisPedigreePolymorphism, Single NucleotidePregnancyRestriction MappingReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSodium-Phosphate Cotransporter Proteins, Type IIcConceptsHereditary hypophosphatemic ricketsHypophosphatemic ricketsElevated 1,25-dihydroxyvitamin DGastrointestinal calcium absorptionHistory of nephrolithiasisIncreased gastrointestinal calcium absorptionPTH levelsRecurrent nephrolithiasisRenal ultrasoundSerum calciumCalcium absorptionNaPi-IIcPatient's motherHypercalciuriaSplicing mutationCompound heterozygosityNephrolithiasisRicketsNovel splice mutationHHRHDihydroxyvitaminPhenotypic changesMutationsMothersSplice mutation
2010
Autoimmune Hypocalciuric Hypercalcemia Unresponsive to Glucocorticoid Therapy in a Patient with Blocking Autoantibodies against the Calcium-Sensing Receptor
Pallais JC, Kemp EH, Bergwitz C, Kantham L, Slovik DM, Weetman AP, Brown EM. Autoimmune Hypocalciuric Hypercalcemia Unresponsive to Glucocorticoid Therapy in a Patient with Blocking Autoantibodies against the Calcium-Sensing Receptor. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 672-680. PMID: 21159843, PMCID: PMC3047232, DOI: 10.1210/jc.2010-1739.Peer-Reviewed Original ResearchMeSH KeywordsAgedAntibodies, AntinuclearAntibodies, BlockingAutoantibodiesAutoimmune DiseasesCalciumDrug ResistanceExtracellular Signal-Regulated MAP KinasesFemaleGlucocorticoidsHumansHypercalcemiaImmunoglobulin EImmunoprecipitationInositol PhosphatesParathyroid HormonePhosphorylationReceptors, Calcium-SensingStimulation, ChemicalType C PhospholipasesConceptsAutoimmune hypocalciuric hypercalcemiaUrinary calcium excretionCalcium-sensing receptorGlucocorticoid therapyGlucocorticoid treatmentPTH levelsCalcium excretionAutoantibody titersAccumulation of inositol-1-phosphateTrial of glucocorticoid therapyHypocalciuric hypercalcemiaEffect of extracellular Ca(2Regulation of PTH secretionSerum PTH levelsElevated PTH levelsInositol-1-phosphate accumulationPTH-mediated hypercalcemiaIonized calcium concentrationAntibody-mediated inhibitionExtracellular Ca(2PTH secretionBlocking autoantibodiesAutoimmune disordersSerum totalHypercalcemia