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
2017
Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
Ballesteros L, S. N, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.Peer-Reviewed Original ResearchConceptsElemental formula useFormula useSkeletal diseaseRetrospective chart reviewInadequate dietary intakeCertain clinical settingsFormula productsEffect of treatmentSevere malabsorptionChart reviewSevere hypocalcemiaClinical featuresClinical profileRenal excretionDietary intakeCommon findingMineral metabolismBone diseaseHypophosphatemiaPhosphate supplementationSkeletal radiographsCareful monitoringComplex illnessRenal conservationClinical setting
2013
Increasing Incidence of Nutritional Rickets: A Population-Based Study in Olmsted County, Minnesota
Thacher T, Fischer P, Tebben P, Singh R, S. S, Maxson J, Yawn B. Increasing Incidence of Nutritional Rickets: A Population-Based Study in Olmsted County, Minnesota. Mayo Clinic Proceedings 2013, 88: 176-183. PMID: 23374621, PMCID: PMC3612965, DOI: 10.1016/j.mayocp.2012.10.018.Peer-Reviewed Original ResearchConceptsDiagnostic codesRadiographic evidence of ricketsOlmsted County, MinnesotaRochester Epidemiology Project dataAssociated with black raceCommunity-based populationRisk factorsVitamin D deficiencyPopulation-based studyNutritional ricketsEvidence of ricketsIncidence of nutritional ricketsRecord abstractionEvaluation of risk factorsNonwhite race/ethnicityLeg painD deficiencyOlmsted CountyOutcome measuresIncidence rateRadiographic evidenceLow birth weightAge- and sex-matched controlsGenu varumBlack race