2020
SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome
Cruz-Aviles L, Bale A, Carpenter T. SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome. Journal Of The Endocrine Society 2020, 4: sat-065. PMCID: PMC7208832, DOI: 10.1210/jendso/bvaa046.1845.Peer-Reviewed Original ResearchBone density Z-scorePg/Abnormal calcium levelsLeft hip painSmall right kidneyVitamin D supplementationRemoval of hardwareSensorineural hearing lossBilateral hip dysplasiaPre-op evaluationCentral nervous systemCapital femoral epiphysisTotal hip replacementGATA3 gene mutationWhole-exome sequencingFamily membersD supplementationOral calciumYo maleGastroesophageal refluxHip painChvostek's signEndocrine evaluationRenal diseaseAvascular necrosis
1986
Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities
Harris H, Carpenter T, Shanley P, Rosen S, Levey R, Harmon W. Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities. The American Journal Of Medicine 1986, 81: 169-176. PMID: 3524222, DOI: 10.1016/0002-9343(86)90205-6.Peer-Reviewed Original ResearchConceptsHepatic abnormalitiesInfantile polycystic kidney diseaseSignificant renal insufficiencyTubulointerstitial renal diseaseBile duct proliferationProgressive renal failurePolycystic kidney diseaseRenal Fanconi syndromeRenal insufficiencyRenal transplantTubulointerstitial injuryPortal fibrosisRenal failureRenal diseaseDuct proliferationClinical evidenceFat malabsorptionRenal lesionsKidney diseaseHepatic fibrosisMale infantRenal disordersFanconi syndromeMorphologic featuresDiagnostic categories