甲状旁腺发育和功能的遗传疾病。
Genetic Disorders of Parathyroid Development and Function.
机构信息
Division of Endocrinology and Diabetes, The Center for Bone Health, The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, 11 Northwest Tower, Suite 30, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.
Division of Endocrinology and Diabetes, The Center for Bone Health, The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Boulevard, Abramson Research Building, Room 510A, Philadelphia, PA 19104, USA.
出版信息
Endocrinol Metab Clin North Am. 2018 Dec;47(4):809-823. doi: 10.1016/j.ecl.2018.07.007. Epub 2018 Oct 12.
Hypoparathyroidism is characterized by hypocalcemia and hyperphosphatemia and is due to insufficient levels of circulating parathyroid hormone. Hypoparathyroidism may be an isolated condition or a component of a complex syndrome. Although genetic disorders are not the most common cause of hypoparathyroidism, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone, or postnatal destruction of the parathyroid glands.
甲状旁腺功能减退症的特征是低钙血症和高磷血症，是由于循环甲状旁腺激素水平不足引起的。甲状旁腺功能减退症可能是一种孤立的疾病，也可能是复杂综合征的一个组成部分。尽管遗传疾病不是甲状旁腺功能减退症最常见的原因，但分子分析已经确定了越来越多的基因，当这些基因出现缺陷时，会导致甲状旁腺形成受损、甲状旁腺激素合成或分泌紊乱，或甲状旁腺在出生后被破坏。
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