2024
9295 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study
Ing S, Harmatz P, Mora S, Imel E, Tebben P, Warren M, Ma N, Khan A, Palermo A, Decallonne B, Lemoine S, Mantovani G, Linglart A, Wasserman H, Barbosa A, Cardot-Bauters C, Roberts M, Mathew A, Adler S, Zillikens M, Clifton-Bligh R, Rejnmark L. 9295 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study. Journal Of The Endocrine Society 2024, 8: bvae163.383. PMCID: PMC11454366, DOI: 10.1210/jendso/bvae163.383.Peer-Reviewed Original Research8669 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study
Ing S, Harmatz P, Mora S, Imel E, Tebben P, Warren M, Ma N, Khan A, Palermo A, Decallonne B, Lemoine S, Mantovani G, Linglart A, Wasserman H, Barbosa A, Cardot-Bauters C, Roberts M, Mathew A, Adler S, Zillikens M, Clifton-Bligh R, Rejnmark L. 8669 Characteristics Of Adults with Autosomal Dominant Hypocalcemia Type 1 (ADH1) Enrolled In The CLARIFY Disease Monitoring Study. Journal Of The Endocrine Society 2024, 8: bvae163.384. PMCID: PMC11454712, DOI: 10.1210/jendso/bvae163.384.Peer-Reviewed Original ResearchErratum 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 ResearchCALIBRATE: A phase 3, randomized, open-label study evaluating the efficacy and safety of encaleret (CLTX-305) compared to standard of care in participants with autosomal dominant hypocalcemia type 1 [NCT05680818]
Rejnmark L, Mannstadt M, Brandi M, Ozono K, Tebben P, Mathew A, Roberts M, Adler S, Gafni R. CALIBRATE: A phase 3, randomized, open-label study evaluating the efficacy and safety of encaleret (CLTX-305) compared to standard of care in participants with autosomal dominant hypocalcemia type 1 [NCT05680818]. Endocrine Abstracts 2024 DOI: 10.1530/endoabs.99.oc2.6.Peer-Reviewed Original ResearchCorrection: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Pinto e Vairo F, Kemppainen J, Vitek C, Whalen D, Kolbert K, Sikkink K, Kroc S, Kruisselbrink T, Shupe G, Knudson A, Burke E, Loftus E, Bandel L, Prochnow C, Mulvihill L, Thomas B, Gable D, Graddy C, Garzon G, Ekpoh I, Porquera E, Fervenza F, Hogan M, El Ters M, Warrington K, Davis J, Koster M, Orandi A, Basiaga M, Vella A, Kumar S, Creo A, Lteif A, Pittock S, Tebben P, Abate E, Joshi A, Ristagno E, Patnaik M, Schimmenti L, Dhamija R, Sabrowsky S, Wierenga K, Keddis M, Samadder N, Presutti R, Robinson S, Stephens M, Roberts L, Faubion W, Driscoll S, Wong-Kisiel L, Selcen D, Flanagan E, Ramanan V, Jackson L, Mauermann M, Ortega V, Anderson S, Aoudia S, Klee E, McAllister T, Lazaridis K. Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). Journal Of Translational Medicine 2024, 22: 400. PMID: 38689323, PMCID: PMC11061992, DOI: 10.1186/s12967-024-05185-9.Peer-Reviewed Original ResearchAn infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk
Salama M, Tebben P, Al Nofal A. An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk. Journal Of Pediatric Endocrinology And Metabolism 2024, 37: 375-379. PMID: 38414167, DOI: 10.1515/jpem-2023-0494.Peer-Reviewed Case Reports and Technical NotesConceptsParathyroid hormoneCreatinine ratioUrine calcium-to-creatinine ratioHistory of biliary atresiaCalcium to creatinine ratioMonths prior to presentationAlmond milkCow's milk allergyMilk consumptionMonths of ageSevere hypercalcemiaBiliary atresiaAlternative to cow milkCow's milkD levelsLiver transplantationPlant-based milk alternativesCase reportInitial managementIntravenous fluidsMilk allergyHypercalcemiaMineral contentCalcium concentrationHypophosphatemiaEfficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D
Mohan S, Sheehan M, Tebben P, Wermers R. Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D. JCEM Case Reports 2024, 2: luae022. PMID: 38476635, PMCID: PMC10928506, DOI: 10.1210/jcemcr/luae022.Peer-Reviewed Original ResearchLow PTHTherapeutic optionsCalcium levelsNormalization of calcium levelsElevated serum calcium levelsSerum calcium levelsMechanism(s) of actionOral cinacalcetSymptomatic hypocalcemiaCinacalcet doseRecurrent nephrolithiasisUrine calciumRare causeGranulomatous diseaseCinacalcetHypercalcemiaFollow-upSymptomatic benefitGenetic testingBiallelic variantsGenetic mutationsMechanism(s)Mild decreasePTHMalignancyAn update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
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. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Kidney International 2024, 105: 1058-1076. PMID: 38364990, PMCID: PMC11106756, DOI: 10.1016/j.kint.2024.01.031.Peer-Reviewed Original ResearchResponse to therapyHereditary hypophosphatemic ricketsPathogenic variantsBone phenotypeSerum phosphateHypophosphatemic ricketsHeterozygous carriersPartial response to therapyPredicting response to therapyRare group of disordersIntact parathyroid hormoneUrine calcium excretionCorrection of hypophosphatemiaSolute carrier familyDecreased serum phosphateBaseline disease severityVariants in vitroOral phosphate supplementationNormalize serum phosphateStandard of careGroup of disordersMutant allelesCarrier familyBiochemical phenotypeKidney phenotypeVitamin D and the kidney
Kritmetapak K, Tebben PJ, Kumar R. Vitamin d and the kidney. In: Hewison M; Et al editors., Feldman and Pike's vitamin d: biochemistry, physiology and diagnostics. Fifth Edition. London: Academic Press/Elsevier; 2024. vol. One. p. 301-30Chapters
2023
Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes
Shariq O, Abrantes V, Lu L, Tebben P, Foster T, Dy B, Lyden M, Young W, McKenzie T. Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes. Surgery 2023, 175: 8-16. PMID: 37891063, DOI: 10.1016/j.surg.2023.05.044.Peer-Reviewed Original ResearchConceptsMedian disease-free survivalDisease-free survivalPrimary hyperparathyroidismSurgical approachTruncated exon 2Total parathyroidectomyPostoperative outcomesExon 2Aggressive pNETsShorter median disease-free survivalHigh risk of recurrenceLong-term postoperative outcomesIncidence of postoperative hypoparathyroidismMultiple endocrine neoplasia type 1Incidence of permanent hypoparathyroidismPancreatic neuroendocrine tumorsAnalyzed baseline characteristicsRisk of recurrenceYounger median ageGermline pathogenic variantsHypoparathyroidism rateMEN1 genotypeMEN1 variantsPermanent hypoparathyroidismNeuroendocrine tumorsSAT257 Efficacy Of Oral Cinacalcet In Non-PTH Non-Malignant Hypercalcemia From Excess 1,25 Dihydroxyvitamin D
Mohan S, Sheehan M, Tebben P, Wermers R. SAT257 Efficacy Of Oral Cinacalcet In Non-PTH Non-Malignant Hypercalcemia From Excess 1,25 Dihydroxyvitamin D. Journal Of The Endocrine Society 2023, 7: bvad114.553. PMCID: PMC10554413, DOI: 10.1210/jendso/bvad114.553.Peer-Reviewed Original ResearchMale patientsFemale patientsCYP24A1 geneNon-malignantCalcium levelsElevated 1,25-dihydroxyvitamin DNormalization of calcium levelsDecreased intestinal calcium absorptionEstimated glomerular filtration rateFractional excretion of calciumCYP24A1 gene mutationsDiscontinuation of cinacalcetTreated with cinacalcetEnzyme 1-alpha-hydroxylaseYear of therapySerum calcium levelsHypercalcemia of malignancyIntestinal calcium absorptionMaintenance of normocalcemiaGlomerular filtration rateExcretion of calciumSerum calcium concentrationChronic kidney diseasePTH-related peptideOral cinacalcetTHU461 Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy
Salama M, Tebben P. THU461 Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy. Journal Of The Endocrine Society 2023, 7: bvad114.422. PMCID: PMC10555444, DOI: 10.1210/jendso/bvad114.422.Peer-Reviewed Original ResearchDietary calcium intakeCalcium intakeAsfotase alfaPerinatal hypophosphatasiaMonths of ageTissue non-specific alkaline phosphataseSevere hypercalcemiaAA doseIncreased to 3 mg/kgLow calcium intakeDefective bone mineralizationLong-term therapyEnzyme replacement therapyTreated with AAPrenatal ultrasoundCalcitonin therapyPersistent hypercalcemiaInitial presentationAA therapyHydroxyvitamin DNon-specific alkaline phosphataseCalcium supplementationParathyroid hormoneReplacement therapyInitial managementImplementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Pinto e Vairo F, Kemppainen J, Vitek C, Whalen D, Kolbert K, Sikkink K, Kroc S, Kruisselbrink T, Shupe G, Knudson A, Burke E, Loftus E, Bandel L, Prochnow C, Mulvihill L, Thomas B, Gable D, Graddy C, Garzon G, Ekpoh I, Porquera E, Fervenza F, Hogan M, El Ters M, Warrington K, Davis J, Koster M, Orandi A, Basiaga M, Vella A, Kumar S, Creo A, Lteif A, Pittock S, Tebben P, Abate E, Joshi A, Ristagno E, Patnaik M, Schimmenti L, Dhamija R, Sabrowsky S, Wierenga K, Keddis M, Samadder N, Presutti R, Robinson S, Stephens M, Roberts L, Faubion W, Driscoll S, Wong-Kisiel L, Selcen D, Flanagan E, Ramanan V, Jackson L, Mauermann M, Ortega V, Anderson S, Aoudia S, Klee E, McAllister T, Lazaridis K. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). Journal Of Translational Medicine 2023, 21: 410. PMID: 37353797, PMCID: PMC10288779, DOI: 10.1186/s12967-023-04183-7.Peer-Reviewed Original ResearchConceptsMayo Clinic programGenetic counselorsGenetic testingImplementation of genomic medicineSubspecialty practiceGenetic counseling assistantsClinical programsUndiagnosed diseaseClinical service modelGenetic test resultsTertiary healthcare systemGenetic nursesMedical managementMulti-gene panelHealthcare providersSubspecialty providersTargeted genetic testingMedical geneticistsHealthcare systemImprove accessGenomic medicineProgram expansionGenetic counselingRare diseaseTest facilitatorPediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases
54. Szabo Yamashita T, Gudmundsdottir H, Foster TR, Lyden ML, Dy BM, Tebben PJ, McKenzie T. Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases. Am J Surg. 2023 Apr;225(4):699-702. doi: 10.1016/j.amjsurg.2022.10.018. Epub 2022 Oct 17. PMID: 36270819Peer-Reviewed Original ResearchFanconi syndrome and renal tubular acidosis. In: Favus MJ. Primer on the metabolic bone diseases and disorders of mineral metabolism
Tebben PJ, Kumar R. Fanconi syndrome and renal tubular acidosis. In: Favus MJ. Primer on the metabolic bone diseases and disorders of mineral metabolism. 5th ed. Washington, DC: American Society for Bone and Mineral Research; 2003. p. 426-30Chapters
2022
Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases
Szabo Yamashita T, Gudmundsdottir H, Foster T, Lyden M, Dy B, Tebben P, McKenzie T. Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases. The American Journal Of Surgery 2022, 225: 699-702. PMID: 36270819, DOI: 10.1016/j.amjsurg.2022.10.018.Peer-Reviewed Original ResearchConceptsPrimary hyperparathyroidismFamilial casesSingle-center retrospective reviewSporadic casesTime to recurrenceSingle gland diseaseRate of recurrenceLong-term outcomesApparent sporadic casesSporadic groupRetrospective reviewSurgical outcomesMEN-1Pediatric patientsGland diseaseFamilial syndromesSurgical pathologyFollow-upGenetic testingPatientsRecurrenceFamily cohortSyndromeMonthsOutcomesHypophosphatemia: A Practical Guide to Evaluation and Management
Tebben P. Hypophosphatemia: A Practical Guide to Evaluation and Management. Endocrine Practice 2022, 28: 1091-1099. PMID: 35940468, DOI: 10.1016/j.eprac.2022.07.005.Peer-Reviewed Original ResearchConceptsClinical manifestationsNormal phosphate homeostasisParathyroid hormoneFibroblast growth factorFunction of phosphateRange of symptomsCell membrane integrityEnzyme functionGrowth factorPhosphate balanceSkeletal mineralizationMembrane integrityChronic causesGastrointestinal tractPhosphate homeostasisDiverse rolesEnergy homeostasisHypophosphatemiaeP155: Genetic investigation of idiopathic short stature in the endocrinology practice: The Mayo Clinic experience
Kemppainen J, Thomas B, Pinto e Vairo F, Lazaridis K, Tebben P, Lteif A, Pittock S, Kumar S, Creo A. eP155: Genetic investigation of idiopathic short stature in the endocrinology practice: The Mayo Clinic experience. Genetics In Medicine 2022, 24: s94-s95. DOI: 10.1016/j.gim.2022.01.191.Peer-Reviewed Original ResearchKidney 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
Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib
Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky I, Tebben P, Jüppner H. Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e1610-e1619. PMID: 34791361, PMCID: PMC8947795, DOI: 10.1210/clinem/dgab830.Peer-Reviewed Original ResearchConceptsIntracytoplasmic sperm injectionGNAS differentially methylated regionsIn vitro fertilizationLoss of methylationPHP1B patientsGNAS methylationPseudohypoparathyroidism type Ib (PHP1BMaternal GNAS methylation imprintsDifferentially methylated regionsStimulatory G protein alpha-subunitAutosomal dominant PHP1BParathyroid hormone resistancePseudohypoparathyroidism type IbProximal renal tubulesAbnormal GNAS methylationImpaired oocyte maturationOocyte-expressed genesGain of methylationSporadic PHP1BHormone resistanceSperm injectionPHP1BMale factorImprinting defectsGenetic defects