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
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