2021
High 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
2019
Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
Wadams H, Gupta N, Novotny P, Tebben P. Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic. Journal Of Pediatric Endocrinology And Metabolism 2019, 33: 139-145. PMID: 31811804, DOI: 10.1515/jpem-2019-0269.Peer-Reviewed Original ResearchConceptsOptic nerve hypoplasiaPituitary hormone deficiencyThyroid-stimulating hormoneMagnetic resonance imagingMidline abnormalitiesAdrenocorticotropic hormoneHormone deficiencyAntidiuretic hormoneDiagnosis of optic nerve hypoplasiaPresence of optic nerve hypoplasiaRetrospective chart review of patientsThyroid-stimulating hormone deficiencyGrowth hormoneChart review of patientsDiagnosis of GHPituitary hormone functionReview of patientsRetrospective chart reviewYears of ageAge 3 yearsMonths of ageNeonatal periodMedian ageFollow-upMayo Clinic