2022
Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series
Hanna C, Potretzke T, Chedid M, Rangel L, Arroyo J, Zubidat D, Tebben P, Cogal A, Torres V, Harris P, Sas D, Lieske J, Milliner D, Chebib F. Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series. Kidney Medicine 2022, 4: 100419. PMID: 35386604, PMCID: PMC8978140, DOI: 10.1016/j.xkme.2022.100419.Peer-Reviewed Original ResearchUrinary stone diseaseCYP24A1 deficiencyKidney cystsHypophosphatemic ricketsPathogenic variantsStone diseaseAge- and sex-matched control populationElevated 1,25-dihydroxyvitamin D levelSex-matched control populationActive vitamin DHereditary hypophosphatemic ricketsCystic kidney diseaseClinical presentationCase seriesD levelsAdult patientsAbstractText Label="RATIONALEAbstractText Label="RESULTS"HypercalciuriaPhosphate wastingVitamin DHHRHMedian numberAbstractText Label="ConclusionsFamily history
2021
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature
Christensen S, Tebben P, Sas D, Creo A. Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature. Hormone Research In Paediatrics 2021, 94: 374-389. PMID: 34666334, DOI: 10.1159/000520299.Peer-Reviewed Original ResearchConceptsHereditary hypophosphatemic ricketsRenal symptomsPhosphate wastingHypophosphatemic ricketsVariable clinical presentationRenal phosphate wastingPhenotype-genotype correlationSLC34A3 mutationsUrine phosphateBone symptomsCase seriesMineralization defectRare conditionSLC34A3 variantsSerum phosphorusHHRHAccurate diagnosisUrinary stonesPatientsCombined boneHypercalciuriaLiterature reviewSymptomsSLC34A3Systematic literature reviewVariable 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
2017
Iron Replacement as A Therapeutic Approach For Renal Phosphate Wasting With Associated Iron Deficiency
Kumar A, Wermers R, Tebben P. Iron Replacement as A Therapeutic Approach For Renal Phosphate Wasting With Associated Iron Deficiency. AACE Clinical Case Reports 2017, 3: e260-e263. DOI: 10.4158/ep161330.cr.Peer-Reviewed Case Reports and Technical NotesAutosomal dominant hypophosphatemic ricketsTumor-induced osteomalaciaRenal phosphate wastingIron replacementIron deficiencyPhosphate wastingHypophosphatemic ricketsClinical improvementWeeks of iron therapyAutosomal recessive hypophosphatemic ricketsProgressive clinical improvementX-linked hypophosphatemic ricketsFibroblast growth factor 23Worsening muscle weaknessPotential treatment optionCalcitriol therapyHypophosphatemic osteomalaciaIron therapyDiffuse painFractional excretionTreatment optionsElevated FGF23Family historyProgressive weaknessFibroblast growth factor