2018
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy
Bergwitz C, Miyamoto KI. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflügers Archiv - European Journal Of Physiology 2018, 471: 149-163. PMID: 30109410, DOI: 10.1007/s00424-018-2184-2.ChaptersConceptsElevated 1,25(OH)2D levelsHereditary hypophosphatemic ricketsHypophosphatemic ricketsActive vitamin D analoguesEnhanced intestinal calcium absorptionActive vitamin D analogsFibroblast growth factor 23Kidney stonesRare autosomal recessive disorderIntestinal calcium absorptionGrowth factor 23Risk of kidney stonesUrinary phosphate wastingDistal renal tubulesVitamin D analogsX-linked hypophosphatemiaAutosomal recessive disorderDevelopment of kidney stonesLoss-of-function mutationsSecondary hyperparathyroidismClinical presentationFactor 23Parathyroid hormoneBone lossCalcium absorption
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