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
24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia Disorders
Azer S, Vaughan L, Tebben P, Sas D. 24-Hydroxylase Deficiency Due to CYP24A1 Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia Disorders. Journal Of The Endocrine Society 2021, 5: bvab119. PMID: 34337279, PMCID: PMC8317629, DOI: 10.1210/jendso/bvab119.Peer-Reviewed Original ResearchPositive family historyUrinary calcium:creatinine ratioFamily historyCalcium:creatinine ratioLumbar spine Z-scoreClinical characteristics of patientsRetrospectively reviewed laboratoryIdentified 9 patientsSpine Z-scoreVitamin D toxicityFisher's exact testCharacteristics of patientsLoss-of-function variantsWilcoxon rank sum testRank sum testSerum calciumClinical characteristicsLaboratory findingsCreatinine ratioInactive metabolitesExact testMayo ClinicSymptom onsetGene variantsPatientsHigh Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency
Hanna C, Potretzke T, Cogal A, Mkhaimer Y, Tebben P, Torres V, Lieske J, Harris P, Sas D, Milliner D, Chebib F. High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency. Kidney International Reports 2021, 6: 1895-1903. PMID: 34307984, PMCID: PMC8258502, DOI: 10.1016/j.ekir.2021.04.030.Peer-Reviewed Original ResearchCYP24A1 deficiencyPathogenic variantsMedian ageKidney cystsKidney diseaseAge- and sex-matched control populationRetrospective analysis of patientsSex-matched control populationAnalysis of patientsLoss-of-function variantsVitamin D metabolismChronic kidney diseaseSuspected pathogenic variantsCystic kidney diseaseRare hereditary diseasesStone riskRetrospective analysisD metabolismMedian numberFamily historyCYP24A1Genetic confirmationPatientsHighest prevalenceHereditary disease
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
2013
Clinical spectrum of hypophosphatasia diagnosed in adults
Berkseth K, Tebben P, Drake M, Hefferan T, Jewison D, Wermers R. Clinical spectrum of hypophosphatasia diagnosed in adults. Bone 2013, 54: 21-27. PMID: 23352924, DOI: 10.1016/j.bone.2013.01.024.Peer-Reviewed Original ResearchConceptsMusculoskeletal painAbsence of genetic testingUrine phosphoethanolamineHistory of fractureAdult hypophosphatasiaHip/femoral neckClinical manifestationsClinical spectrum of hypophosphatasiaSubtrochanteric femur fracturesIncident fracturesLow serum alkaline phosphataseDiagnostic codesIliac crest bone biopsiesAlkaline phosphataseFracture patientsFamily historyConsistent with osteomalaciaEvidence of osteomalaciaInclusion criteriaGenetic testingFemur fracturesMedical recordsSerum alkaline phosphataseSymptomatic subjectsRadiographic chondrocalcinosis