RESUMEN
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.
Asunto(s)
Hiperparatiroidismo Primario , Humanos , Hiperparatiroidismo Primario/genética , Hiperparatiroidismo Primario/sangre , Hiperparatiroidismo Primario/patología , Hiperparatiroidismo Primario/diagnóstico , Adolescente , Femenino , Masculino , Niño , Estudios Retrospectivos , Federación de Rusia/epidemiología , Hormona Paratiroidea/sangreRESUMEN
Results of the laparoscopic treatment of 36 patients with Hirschsprung's disease were analyzed. The majority of patients were the newborns or before 12 months old. The use of laparoscopy permitted a full-fledged topical diagnostics, aganglionosis zone identification, gut mobilization and voiding. Laparoscopic method also allowed to decrease the ICU stay in 3,1 times and start breastfeeding earlier, lessen the pelvic floor intraoperative traumatization and decrease the level of commissural and inflammatory complications. Good and excellent functional results were achieved in 93,7% of children, stenosis of the anastomotic area was registered postoperatively in 2 patients.