Variable Clinical Presentation of Children With Hereditary Hypophosphatemic Rickets With Hypercalciuria: A Case Series
Christensen S, Tebben P, Sas D, Creo A. Variable Clinical Presentation of Children With Hereditary Hypophosphatemic Rickets With Hypercalciuria: A Case Series. Journal Of The Endocrine Society 2021, 5: a708-a708. PMCID: PMC8090272, DOI: 10.1210/jendso/bvab048.1442.Peer-Reviewed Original ResearchYear old maleYear old femaleHereditary hypophosphatemic ricketsHypophosphatemic ricketsDihydroxyvitamin DSerum phosphorusPhosphate wastingVitamin DElevated 1,25-dihydroxyvitamin DRecurrent urinary stonesLower extremity painVariable clinical presentationLow serum phosphorusPatellofemoral pain syndromePhenotype-genotype correlationProximal renal tubular cellsRenal tubular cellsSLC34A3 geneRenal ultrasoundUrine phosphorusExtremity painPain syndromePresenting symptomsUrine phosphateBone symptoms