Gorbacheva Anna M, Eremkina Anna K, Mokrysheva Natalya G
Endocrinology Research Centre.
Endocrinology research centre.
Probl Endokrinol (Mosk). 2020 Aug 4;66(1):23-34. doi: 10.14341/probl10357.
Primary hyperparathyroidism is a common disorder of mineral homeostasis, characterized by overproduction of parathyroid hormone and upper normal or elevated calcium levels due to hyperplasia or a tumor of parathyroid gland. 90−95% of cases of primary hyperparathyroidism are sporadic, while hereditary genetic forms occur in 5–10% of all cases. Primary hyperparathyroidism as the component of hereditary syndromes can present in various clinical forms (asymptomatic, symptomatic), can be associated with other endocrine or non-endocrine diseases, and require special approaches to treatment. Given that primary hyperparathyroidism is one of the most common components of these syndromes, it can be used as an important diagnostic tool in identifying affected families. This review is devoted to modern ideas about the clinical course and genetic characteristics of hereditary variants of primary hyperparathyroidism and the diagnostic and treatment algorithms recommended today. The review considers primary hyperparathyroidism as a component of hereditary syndromes including multiple endocrine neoplasias types 1, 2A and 4 and syndrome of hyperparathyroidism with a jaw tumor. Also non-syndromic hereditary forms are descripted, such as familial isolated hyperparathyroidism, familial hypocalciuric hypercalcemia, and severe neonatal primary hyperparathyroidism.
原发性甲状旁腺功能亢进是矿物质稳态的常见紊乱，其特征是甲状旁腺激素分泌过多，以及由于甲状旁腺增生或肿瘤导致血钙水平正常上限或升高。90%至95%的原发性甲状旁腺功能亢进病例为散发性，而遗传性基因形式在所有病例中占5%至10%。作为遗传性综合征组成部分的原发性甲状旁腺功能亢进可表现为各种临床形式（无症状、有症状），可与其他内分泌或非内分泌疾病相关，且需要特殊的治疗方法。鉴于原发性甲状旁腺功能亢进是这些综合征最常见的组成部分之一，它可作为识别受影响家族的重要诊断工具。本综述致力于阐述关于原发性甲状旁腺功能亢进遗传变异的临床病程和遗传特征以及当今推荐的诊断和治疗算法的现代观点。该综述将原发性甲状旁腺功能亢进视为遗传性综合征的组成部分，包括1型、2A型和4型多发性内分泌肿瘤以及颌骨肿瘤性甲状旁腺功能亢进综合征。此外，还描述了非综合征性遗传形式，如家族性孤立性甲状旁腺功能亢进、家族性低钙血症性高钙血症和严重新生儿原发性甲状旁腺功能亢进。
