A Case Report of Calcium- Sensing Receptor Gene Variant CASR (c.659G>A; p.R220Q) and Primary Hyperparathyroidism
نویسندگان
چکیده
Background: Primary hyperparathyroidism (PHPT) results from excessive parathyroid hormone one or more overactive gland(s). An estimated 90% of PHPT cases are sporadic, and up to 10% inherited, comprising hereditary (HHPT). Genetic testing can aid in diagnosis management influence other family members.
منابع مشابه
CASR (Calcium-Sensing Receptor)
Review on CASR, with data on DNA/RNA, on the protein encoded and where the gene is implicated.
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Nephrolithiasis, secondary hyperparathyroidism (sHPT), and cardiovascular complications are associated with disturbances in Ca handling and contribute to morbidity/mortality during haemodialysis (HD). Calcimimetics, activators of the calcium-sensing receptor (CaSR), provide an effective means of reducing parathyroid hormone (PTH) secretion in sHPT. Polymorphism in CaSR gene (CASR) influences Ca...
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متن کاملA novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
OBJECTIVE The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene. METHOD We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels fou...
متن کاملPrimary Hyperparathyroidism: A Report on 30 Cases of the Disease
Primary hyperparathyroidism is not nowadays considered a rare disease and according to some reports, its incidence is 1/1000. This disorder can be accompanied with severe complications including renal failure and bone illnesses and this can highly elevate the treatment costs and causes social problems and troubles within families. The descriptive strategy of this study was carried out on 30 pa...
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ژورنال
عنوان ژورنال: Advances in diabetes & endocrinology
سال: 2022
ISSN: ['2475-5591']
DOI: https://doi.org/10.13188/2475-5591.1000017