Peter Kamenický , Pascal Houillier , Marie-Christine Vantyghem
{"title":"第四章:原发性甲状旁腺功能亢进的鉴别诊断。","authors":"Peter Kamenický , Pascal Houillier , Marie-Christine Vantyghem","doi":"10.1016/j.ando.2025.101693","DOIUrl":null,"url":null,"abstract":"<div><div>The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive or psychiatric disorder, or disturbance of consciousness. Nevertheless, the differential diagnosis of primary hyperparathyroidism is mainly biological, particularly in atypical forms, which must be differentiated from hypercalcemia with hypocalciuria or non-elevated PTH on the one hand, and from normo-calcemia with elevated PTH, hypophosphatemia or hypercalciuria on the other. Any differential diagnosis must be preceded by an analysis of the factors likely to disturb phospho-calcium parameters: vitamin D deficiency (assay), renal insufficiency (eGFR measurement), malabsorption (inflammatory disease of the digestive tract, celiac disease, bariatric surgery, etc.), insufficient calcium intake (GRIO questionnaire) and iatrogenic causes (diuretics, anti-osteoporotic drugs, excessive vitamin D or calcium supplementation, lithium, corticosteroid therapy, phosphorus intake). Once these factors have been eliminated, hypercalcemia with hypocalciuria should suggest a genetic cause. Hypercalcemia with non-elevated PTH may be secondary to neoplasm, hypervitaminosis D (excessive intake, production or catabolism), immobilization or endocrine causes. Elevated PTH values without hypercalcemia must be differentiated from normo-calcemic hyperparathyroidism. High PTH levels are found in PTH-resistant patients, as well as in hypophosphatemic (especially X-linked) or hypercalciuric tubulopathies (certain rare diseases, immobilization, loop diuretics or idiopathic causes favored by a metabolic syndrome). Radiologically, brown tumor must be differentiated primarily from bone metastasis, chondrosarcoma and giant cell tumor.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101693"},"PeriodicalIF":2.9000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Chapter 4: Differential diagnosis of primary hyperparathyroidism\",\"authors\":\"Peter Kamenický , Pascal Houillier , Marie-Christine Vantyghem\",\"doi\":\"10.1016/j.ando.2025.101693\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive or psychiatric disorder, or disturbance of consciousness. Nevertheless, the differential diagnosis of primary hyperparathyroidism is mainly biological, particularly in atypical forms, which must be differentiated from hypercalcemia with hypocalciuria or non-elevated PTH on the one hand, and from normo-calcemia with elevated PTH, hypophosphatemia or hypercalciuria on the other. Any differential diagnosis must be preceded by an analysis of the factors likely to disturb phospho-calcium parameters: vitamin D deficiency (assay), renal insufficiency (eGFR measurement), malabsorption (inflammatory disease of the digestive tract, celiac disease, bariatric surgery, etc.), insufficient calcium intake (GRIO questionnaire) and iatrogenic causes (diuretics, anti-osteoporotic drugs, excessive vitamin D or calcium supplementation, lithium, corticosteroid therapy, phosphorus intake). Once these factors have been eliminated, hypercalcemia with hypocalciuria should suggest a genetic cause. Hypercalcemia with non-elevated PTH may be secondary to neoplasm, hypervitaminosis D (excessive intake, production or catabolism), immobilization or endocrine causes. Elevated PTH values without hypercalcemia must be differentiated from normo-calcemic hyperparathyroidism. High PTH levels are found in PTH-resistant patients, as well as in hypophosphatemic (especially X-linked) or hypercalciuric tubulopathies (certain rare diseases, immobilization, loop diuretics or idiopathic causes favored by a metabolic syndrome). Radiologically, brown tumor must be differentiated primarily from bone metastasis, chondrosarcoma and giant cell tumor.</div></div>\",\"PeriodicalId\":7917,\"journal\":{\"name\":\"Annales d'endocrinologie\",\"volume\":\"86 1\",\"pages\":\"Article 101693\"},\"PeriodicalIF\":2.9000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales d'endocrinologie\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0003426625000125\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales d'endocrinologie","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0003426625000125","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Chapter 4: Differential diagnosis of primary hyperparathyroidism
The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive or psychiatric disorder, or disturbance of consciousness. Nevertheless, the differential diagnosis of primary hyperparathyroidism is mainly biological, particularly in atypical forms, which must be differentiated from hypercalcemia with hypocalciuria or non-elevated PTH on the one hand, and from normo-calcemia with elevated PTH, hypophosphatemia or hypercalciuria on the other. Any differential diagnosis must be preceded by an analysis of the factors likely to disturb phospho-calcium parameters: vitamin D deficiency (assay), renal insufficiency (eGFR measurement), malabsorption (inflammatory disease of the digestive tract, celiac disease, bariatric surgery, etc.), insufficient calcium intake (GRIO questionnaire) and iatrogenic causes (diuretics, anti-osteoporotic drugs, excessive vitamin D or calcium supplementation, lithium, corticosteroid therapy, phosphorus intake). Once these factors have been eliminated, hypercalcemia with hypocalciuria should suggest a genetic cause. Hypercalcemia with non-elevated PTH may be secondary to neoplasm, hypervitaminosis D (excessive intake, production or catabolism), immobilization or endocrine causes. Elevated PTH values without hypercalcemia must be differentiated from normo-calcemic hyperparathyroidism. High PTH levels are found in PTH-resistant patients, as well as in hypophosphatemic (especially X-linked) or hypercalciuric tubulopathies (certain rare diseases, immobilization, loop diuretics or idiopathic causes favored by a metabolic syndrome). Radiologically, brown tumor must be differentiated primarily from bone metastasis, chondrosarcoma and giant cell tumor.
期刊介绍:
The Annales d''Endocrinologie, mouthpiece of the French Society of Endocrinology (SFE), publishes reviews, articles and case reports coming from clinical, therapeutic and fundamental research in endocrinology and metabolic diseases. Every year, it carries a position paper by a work-group of French-language endocrinologists, on an endocrine pathology chosen by the Society''s Scientific Committee. The journal is also the organ of the Society''s annual Congress, publishing a summary of the symposia, presentations and posters. "Les Must de l''Endocrinologie" is a special booklet brought out for the Congress, with summary articles that are always very well received. And finally, we publish the high-level instructional courses delivered during the Henri-Pierre Klotz International Endocrinology Days. The Annales is a window on the world, keeping alert clinicians up to date on what is going on in diagnosis and treatment in all the areas of our specialty.