2024
Erratum to “An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).” Kidney International 2023;105:1058–1076
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter T, Lazaretti-Castro M, Colazo J, McCrystal Dahir K, Geßner M, Gurevich E, Heier C, Simmons J, Hunley T, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott S, Peña H, Santos F, Tebben P, Topor L, Deng Y, Bergwitz C. Erratum to “An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).” Kidney International 2023;105:1058–1076. Kidney International 2024, 106: 159. PMID: 38906648, DOI: 10.1016/j.kint.2024.05.005.Peer-Reviewed Original Research
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 review
2016
Primary Hyperparathyroidism in Children and Adolescents
Lo H, Tebben P. Primary Hyperparathyroidism in Children and Adolescents. 2016, 117-128. DOI: 10.1007/978-3-319-25880-5_14.ChaptersPrimary hyperparathyroidismMultiple-gland diseaseSporadic primary hyperparathyroidismDegree of hypercalcemiaAssociated with greater morbidityEnd-organ damageTime of diagnosisHigh-volume surgeonsParathyroid hormone concentrationsTarget organ sensitivityPediatric patientsRare conditionYounger patientsGreater morbidityEndocrine surgeryEndocrine disordersFamilial diseaseAffected organsHormone concentrationsHyperparathyroidismSurgeryPatientsDiseaseAdultsHypercalciuria