[Primary hyperparathyroidism in children].
| Autor: | Benina AR; Endocrinology Research Center., Kolodkina AA; Endocrinology Research Center., Tiul'pakov AN; Research Centre for Medical Genetics; Russian Children's Clinical Hospital., Kalinchenko NY; Endocrinology Research Center., Brovin DM; Endocrinology Research Center., Anikiev AV; Endocrinology Research Center., Danilenko OS; Endocrinology Research Center., Sheremeta MS; Endocrinology Research Center., Zakharova VV; Endocrinology Research Center., Solodovnikova EN; Endocrinology Research Center., Bezlepkina OB; Endocrinology Research Center. |
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| Jazyk: | ruština |
| Zdroj: | Problemy endokrinologii [Probl Endokrinol (Mosk)] 2023 Oct 15; Vol. 70 (3), pp. 74-82. Date of Electronic Publication: 2023 Oct 15. |
| DOI: | 10.14341/probl13382 |
| Abstrakt: | Background: 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. Aim: To study the features of the course and molecular genetic basis of primary hyperparathyroidism in children. Materials and Methods: 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. Results: 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). Conclusion: 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. |
| Databáze: | MEDLINE |
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