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 reviewBasal Ganglia Calcification in Hypoparathyroidism Is Associated With Low Serum Calcium/Phosphate Ratio
Zavatta G, Tebben P, Clarke B. Basal Ganglia Calcification in Hypoparathyroidism Is Associated With Low Serum Calcium/Phosphate Ratio. Journal Of The Endocrine Society 2021, 5: a255-a256. PMCID: PMC8091468, DOI: 10.1210/jendso/bvab048.519.Peer-Reviewed Original ResearchHead CT scanBasal ganglia calcificationNon-surgical hypoparathyroidismCT scanPrevalence of basal ganglia calcificationsHead CTSerum calciumAssociated with lower serum calciumCalcium x phosphate productRisk factorsAverage serum calciumComplications of hypoparathyroidismDuration of hypoparathyroidismHead CT-Scan imageLow serum calciumPost-surgical hypoparathyroidismCohort of patientsIncreased serum phosphateCardiovascular risk factorsDiagnosis of hypoparathyroidismMedical record reviewCalcium/phosphate ratioSerum phosphateCase seriesCase report
2020
Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study
Hawkes C, Roy S, Dekelbab B, Frazier B, Grover M, Haidet J, Listman J, Madsen S, Roan M, Rodd C, Sopher A, Tebben P, Levine M. Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study. The Journal Of Clinical Endocrinology & Metabolism 2020, 106: e485-e495. PMID: 33124662, PMCID: PMC7823241, DOI: 10.1210/clinem/dgaa759.Peer-Reviewed Original ResearchConceptsAcute hypercalcemiaKetogenic dietLevels of 1,25-dihydroxyvitamin DLow levels of parathyroid hormoneLevels of parathyroid hormoneLow alkaline phosphatase levelMulticenter case seriesImpaired renal functionCohort of patientsResolution of hypercalcemiaReduced osteoblast activityResponse to treatmentAlkaline phosphatase levelsImpaired bone formationRenal impairmentClinical presentationRenal functionParathyroid hormoneCase seriesMulticenter studyClinical characteristicsBone healthHypercalcemiaSkeletal demineralizationFollow-up