Benina A R, Kolodkina A A, Tiul'pakov A N, Kalinchenko N Yu, Brovin D M, Anikiev A V, Danilenko O S, Sheremeta M S, Zakharova V V, Solodovnikova E N, Bezlepkina O B
Endocrinology Research Center.
Research Centre for Medical Genetics; Russian Children's Clinical Hospital.
Probl Endokrinol (Mosk). 2023 Oct 15;70(3):74-82. doi: 10.14341/probl13382.
Primary hyperparathyroidism (PHPT) is an endocrine disorder characterized by excessive secretion of parathyroid hormone (PTH) with upper-normal or elevated blood calcium levels due to primary thyroid gland pathology. PHPT is a rare pathology in children, with a prevalence of 2-5:100,000 children according to the literature. Due to the non-specificity of clinical manifestations at onset (nausea, vomiting, abdominal pain, emotional lability), the disease may remain undiagnosed for a long time.
To study the features of the course and molecular genetic basis of primary hyperparathyroidism in children.
Retrospective observational study of 49 patients diagnosed with primary hyperparathyroidism. All patients underwent a comprehensive laboratory-instrumental and molecular genetic study at the Institute of Pediatric Endocrinology, Endocrinology Research Center of Russia in the period 2014-2022.
The first clinical symptoms of PHPT were noted at the age of 13.8 years [10.6; 1 5.2], among which fatigue, headaches, dyspepsia, lower limb pain, and fractures were the most common. The age of diagnosis was 15.81 years [13.1; 16.8], all children were found to have high levels of PTH, total and ionized calcium, with hypophosphatemia in 93.9% of patients (n=46) and hypercalciuria in 43% (n=21). Five out of 49 patients (10.2%) were found to have ectopy of the thyroid: 3 showed an intrathyroidal location, 2 in the mediastinal region. Molecular genetic study revealed mutations in 32.7% of patients (n=16, CI (21; 47)), mutations in MEN1 being the most frequent (n=11). Pathogenic variants in CDC73 were detected in 3 patients, RET - in 2. Among the operated 39 patients, adenoma of the thyroid was detected in 84.6% of cases (n=33), hyperplasia in 7.7% (n=3), atypical adenoma in 5.1% (n=2), carcinoma in 5.1% of cases (n=2).
The paper presents the peculiarities of the course and the results of molecular genetic study of pediatric PHPT. This sample is the largest among those published in the Russian Federation.
原发性甲状旁腺功能亢进症（PHPT）是一种内分泌紊乱疾病，其特征是由于原发性甲状腺疾病导致甲状旁腺激素（PTH）分泌过多，血钙水平处于正常上限或升高。PHPT在儿童中是一种罕见的病症，根据文献，其患病率为2 - 5：100,000儿童。由于发病时临床表现不具有特异性（恶心、呕吐、腹痛、情绪不稳定），该疾病可能长时间未被诊断出来。
研究儿童原发性甲状旁腺功能亢进症的病程特点及分子遗传基础。
对49例诊断为原发性甲状旁腺功能亢进症的患者进行回顾性观察研究。所有患者于2014年至2022年期间在俄罗斯内分泌研究中心儿科内分泌研究所接受了全面的实验室 - 仪器检查及分子遗传学研究。
PHPT的首发临床症状出现在13.8岁[10.6；15.2]，其中疲劳、头痛、消化不良、下肢疼痛和骨折最为常见。诊断年龄为15.81岁[13.1；16.8]，所有儿童均发现PTH、总钙和离子钙水平升高，93.9%（n = 46）的患者出现低磷血症，43%（n = 21）的患者出现高钙尿症。49例患者中有5例（10.2%）发现甲状旁腺异位：3例位于甲状腺内，2例位于纵隔区域。分子遗传学研究发现32.7%（n = 16，CI（21；47））的患者存在突变，其中MEN1突变最为常见（n = 11）。3例患者检测到CDC73的致病变体，2例检测到RET的致病变体。在接受手术的39例患者中，84.6%（n = 33）的病例检测到甲状腺腺瘤，7.7%（n = 3）为增生，5.1%（n = 2）为非典型腺瘤，5.1%（n = 2）为癌。
本文介绍了儿童PHPT的病程特点及分子遗传学研究结果。该样本是俄罗斯联邦已发表的样本中最大的。
