【摘 要】
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Isolated hypoparathyroidism (HP) is a rare endocrine disorder in which hypocalcemia and hyperphosphatemia are the result of a deficiency of PTH.The symptoms
【机 构】
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Department of Internal Medicine and Laboratory of Molecular Endocrinology School of Medicine Gachon
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Isolated hypoparathyroidism (HP) is a rare endocrine disorder in which hypocalcemia and hyperphosphatemia are the result of a deficiency of PTH.The symptoms associated with HP are due to hypoealcemia and include muscle cramps, tetany, and seizures.Most cases of HP appear to be sporadic.However, familial forms of the disease have been described, which show either an autosomal recessive (AR) or autosornal dominant (AD) mode of inheritance.Causes of HP include activating mutations in the gene encoding the CaSR, mutations in pre-pro-PTH and GCMB.
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