2010
Autoimmune Hypocalciuric Hypercalcemia Unresponsive to Glucocorticoid Therapy in a Patient with Blocking Autoantibodies against the Calcium-Sensing Receptor
Pallais JC, Kemp EH, Bergwitz C, Kantham L, Slovik DM, Weetman AP, Brown EM. Autoimmune Hypocalciuric Hypercalcemia Unresponsive to Glucocorticoid Therapy in a Patient with Blocking Autoantibodies against the Calcium-Sensing Receptor. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 672-680. PMID: 21159843, PMCID: PMC3047232, DOI: 10.1210/jc.2010-1739.Peer-Reviewed Original ResearchMeSH KeywordsAgedAntibodies, AntinuclearAntibodies, BlockingAutoantibodiesAutoimmune DiseasesCalciumDrug ResistanceExtracellular Signal-Regulated MAP KinasesFemaleGlucocorticoidsHumansHypercalcemiaImmunoglobulin EImmunoprecipitationInositol PhosphatesParathyroid HormonePhosphorylationReceptors, Calcium-SensingStimulation, ChemicalType C PhospholipasesConceptsAutoimmune hypocalciuric hypercalcemiaUrinary calcium excretionCalcium-sensing receptorGlucocorticoid therapyGlucocorticoid treatmentPTH levelsCalcium excretionAutoantibody titersAccumulation of inositol-1-phosphateTrial of glucocorticoid therapyHypocalciuric hypercalcemiaEffect of extracellular Ca(2Regulation of PTH secretionSerum PTH levelsElevated PTH levelsInositol-1-phosphate accumulationPTH-mediated hypercalcemiaIonized calcium concentrationAntibody-mediated inhibitionExtracellular Ca(2PTH secretionBlocking autoantibodiesAutoimmune disordersSerum totalHypercalcemia
2001
Familial isolated parathyroid adenoma in a consanguineous family
Bergwitz C, Bremer B, Soudah B, Mayr B, Brabant G. Familial isolated parathyroid adenoma in a consanguineous family. Journal Of Endocrinological Investigation 2001, 24: 349-355. PMID: 11407655, DOI: 10.1007/bf03343872.Peer-Reviewed Original ResearchConceptsPrimary hyperparathyroidismSecond-degree relativesParathyroid adenomaMultiple endocrine neoplasia 1Recessive mode of inheritanceLeft lower neckRecurrent parathyroid adenomaGood healthGenetic testingSigns or symptomsGerm-cell mutationsBilateral hearing lossPre-term childrenSternocleidomastoid muscleSymptomatic hypercalcemiaMode of inheritanceOncocytic differentiationParathyroid massGentamicin treatmentGerm cell mutationsUltrasound scanRare formLower neckSubsequent autotransplantationEndocrine studies