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144 results

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Page 1
Familial hypocalciuric hypercalcemia and related disorders.
Lee JY, Shoback DM. Lee JY, et al. Best Pract Res Clin Endocrinol Metab. 2018 Oct;32(5):609-619. doi: 10.1016/j.beem.2018.05.004. Epub 2018 May 26. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30449544 Free PMC article. Review.
Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit alpha(11), or adaptor-related protein complex 2, sigma 1 subunit. ...The calcimim …
Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutati …
Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.
Minisola S, Arnold A, Belaya Z, Brandi ML, Clarke BL, Hannan FM, Hofbauer LC, Insogna KL, Lacroix A, Liberman U, Palermo A, Pepe J, Rizzoli R, Wermers R, Thakker RV. Minisola S, et al. J Bone Miner Res. 2022 Nov;37(11):2315-2329. doi: 10.1002/jbmr.4665. Epub 2022 Oct 17. J Bone Miner Res. 2022. PMID: 36245271 Free PMC article. Review.
These may occur as a part of multiple endocrine neoplasia syndromes (MEN1-MEN4), or the hyperparathyroidism jaw-tumor syndrome, or it may be caused by nonsyndromic isolated endocrinopathy, such as familial isolated PHPT and neonatal severe hyperparathyroidism. DNA testing …
These may occur as a part of multiple endocrine neoplasia syndromes (MEN1-MEN4), or the hyperparathyroidism jaw-tumor syndrome, or it may be …
Lithium-associated hyperparathyroidism.
Mifsud S, Cilia K, Mifsud EL, Gruppetta M. Mifsud S, et al. Br J Hosp Med (Lond). 2020 Nov 2;81(11):1-9. doi: 10.12968/hmed.2020.0457. Epub 2020 Nov 17. Br J Hosp Med (Lond). 2020. PMID: 33263481 Review.
Treatment with lithium can give rise to various endocrine and metabolic abnormalities, including thyroid dysfunction, nephrogenic diabetes insipidus and hypercalcaemia. Lithium may induce hypercalcaemia through both acute and chronic effects. The initial acute effec …
Treatment with lithium can give rise to various endocrine and metabolic abnormalities, including thyroid dysfunction, nephrogenic diabetes i …
A practical approach to hypercalcemia.
Carroll MF, Schade DS. Carroll MF, et al. Am Fam Physician. 2003 May 1;67(9):1959-66. Am Fam Physician. 2003. PMID: 12751658 Free article. Review.
Hypercalcemia is a disorder commonly encountered by primary care physicians. The diagnosis often is made incidentally in asymptomatic patients. Clinical manifestations affect the neuromuscular, gastrointestinal, renal, skeletal, and cardiovascular systems. The most common …
Hypercalcemia is a disorder commonly encountered by primary care physicians. The diagnosis often is made incidentally in asymptomatic …
Hypercalcemic Disorders in Children.
Stokes VJ, Nielsen MF, Hannan FM, Thakker RV. Stokes VJ, et al. J Bone Miner Res. 2017 Nov;32(11):2157-2170. doi: 10.1002/jbmr.3296. Epub 2017 Nov 2. J Bone Miner Res. 2017. PMID: 28914984 Free PMC article. Review.
PTH-independent hypercalcemia, ie, hypercalcemia associated with a suppressed PTH, is commoner in children than PTH-dependent hypercalcemia. ...PHPT usually occurs as an isolated nonsyndromic and nonhereditary endocrinopathy, but may also occur as a hereditar …
PTH-independent hypercalcemia, ie, hypercalcemia associated with a suppressed PTH, is commoner in children than PTH-dependent …
Primary Hyperparathyroidism.
Masi L. Masi L. Front Horm Res. 2019;51:1-12. doi: 10.1159/000491034. Epub 2018 Nov 19. Front Horm Res. 2019. PMID: 30641515 Review.
Through the secretion of parathyroid hormone (PTH), the parathyroid glands are primarily responsible for maintaining extracellular calcium and phosphorus concentrations. Hypercalcemia may be distinguished in parathyroid-hypercalcemia and nonparathyroid hypercalce …
Through the secretion of parathyroid hormone (PTH), the parathyroid glands are primarily responsible for maintaining extracellular calcium a …
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV. Hannan FM, et al. Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. Nat Rev Endocrinol. 2018. PMID: 30443043 Free PMC article. Review.
The Ca(2+)-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as the parathyroid glands and the kidneys and signals via G proteins and beta-arrestin. ...The importance of the CaSR for these calcitropic pro …
The Ca(2+)-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as …
Hereditary Primary Hyperparathyroidism.
Newey PJ. Newey PJ. Endocrinol Metab Clin North Am. 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003. Endocrinol Metab Clin North Am. 2021. PMID: 34774240 Review.
Several features may alert the clinician to the possibility of a hereditary PHPT disorder (eg, young age of disease onset) whilst establishing any relevant family history is essential to the clinical evaluation and will help inform the diagnosis. Genetic testing should be …
Several features may alert the clinician to the possibility of a hereditary PHPT disorder (eg, young age of disease onset) whilst establishi …
Familial hypocalciuric hypercalcemia and calcium sensing receptor.
Mrgan M, Nielsen S, Brixen K. Mrgan M, et al. Acta Clin Croat. 2014 Jun;53(2):220-5. Acta Clin Croat. 2014. PMID: 25163238 Review.
Familial hypocalciuric hypercalcemia (FHH) is a lifelong, benign autosomal dominant disease characterized by hypercalcemia, normal to increased parathyroid hormone level, and a relatively low renal calcium excretion. ...
Familial hypocalciuric hypercalcemia (FHH) is a lifelong, benign autosomal dominant disease characterized by hyperca …
Familial hypocalciuric hypercalcemia.
Heath DA. Heath DA. Rev Endocr Metab Disord. 2000 Nov;1(4):291-6. doi: 10.1023/a:1026566418011. Rev Endocr Metab Disord. 2000. PMID: 11706743 Review. No abstract available.
144 results