problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13489problendo-13489Research ArticleБолезни костной и жировой тканиBones & Adipose tissues diseasesКлинический полиморфизм первичного гиперпаратиреоза у детейClinical polymorphism of primary hyperparathyroidism in childrenhttps://orcid.org/0000-0002-8187-947XБенинаА. Р.BeninaA. R.

Бенина Анастасия Романовна  

117036, Москва, ул. Дм. Ульянова, д. 11 

Anastasia R. Benina, MD 

11 Dm. Ulyanova street, 117036 Moscow 

ifeel1996@mail.ruhttps://orcid.org/0000-0001-7736-5372КолодкинаА. А.KolodkinaA. A.

Колодкина Анна Александровна, к.м.н.  

Москва

Anna A. Kolodkina, MD, PhD 

Moscow 

anna_kolodkina@mail.ruhttps://orcid.org/0000-0002-2000-7694КалинченкоН. Ю.KalinchenkoN. Yu.

Калинченко Наталья Юрьевна, к.м.н.  

Москва

Natalia Yu. Kalinchenko, MD, PhD 

Moscow 

kalinnat@rambler.ruhttps://orcid.org/0000-0001-9621-5732БезлепкинаО. Б.BezlepkinaO. B.

Безлепкина Ольга Борисовна, д.м.н., профессор  

Москва

Olga B. Bezlepkina, MD, PhD, Professor 

Moscow 

olgabezlepkina@mail.ruНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CenterRussian Federation20252005202571293101Copyright © Бенина А.Р., Колодкина А.А., Калинченко Н.Ю., Безлепкина О.Б., 20252025Бенина А.Р., Колодкина А.А., Калинченко Н.Ю., Безлепкина О.Б.Benina A.R., Kolodkina A.A., Kalinchenko N.Y., Bezlepkina O.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/13489ОБОСНОВАНИЕ

ОБОСНОВАНИЕ. Первичный гиперпаратиреоз (ПГПТ) у детей встречается достаточно редко, распространенность составляет 2–5 случаев на 100 000 детского населения. Гиперкальциемия при ПГПТ оказывает негативное влияние на органы желудочно-кишечного тракта, мочевыделительную, опорно-двигательную и нервную системы. Своевременная диагностика заболевания у детей затруднена в связи с редкой встречаемостью и разнообразием клинических симптомов.

ЦЕЛЬ

ЦЕЛЬ. Изучить клинические проявления первичного гиперпаратиреоза у детей в зависимости от степени гиперкальциемии.

МАТЕРИАЛЫ И МЕТОДЫ

МАТЕРИАЛЫ И МЕТОДЫ. Ретроспективное с проспективным компонентом наблюдательное исследование 50 детей с первичным гиперпаратиреозом. Всем пациентам проведено комплексное лабораторно-инструментальное исследование в Институте детской эндокринологии ФГБУ «НМИЦ эндокринологии» Минздрава России в период 2014–2023 гг.

РЕЗУЛЬТАТЫ

РЕЗУЛЬТАТЫ. Клинические проявления первичного гиперпаратиреоза у детей очень разнообразны. Слабость и утомляемость наблюдались у 36% пациентов (ДИ (23; 51)). Частыми проявлениями со стороны ЖКТ были тошнота — у 20% (ДИ (10; 34)), гастрит — у 38% (ДИ (25; 53)), дуоденогастральный рефлюкс — у 24% (ДИ (13; 38)). Гиперкальциурия выявлена у 64% пациентов (ДИ (49; 77)), мочекаменная болезнь (МКБ) — у 36% (ДИ (23; 51)). Жалобы на боли в ногах наблюдались у 24% пациентов (ДИ (13; 38)), деформация нижних конечностей была у 20% (ДИ (10; 34)). Низкотравматические переломы в анамнезе имели 16% пациентов (ДИ (7; 29)). Медиана возраста появления первых клинических симптомов ПГПТ у детей составила 13,7 года [10,6; 15,2]. На момент диагностики заболевания 12 пациентов (24%) не имели жалоб и были обследованы в связи со случайно выявленной гиперкальциемией (n=3), гиперкальциурией (n=1), выявленными образованиями околощитовидных желез (ОЩЖ) по данным УЗИ (n=5), наличием отягощенного наследственного анамнеза по синдрому множественных эндокринных неоплазий 1 типа (n=3). Для выявления связи между клиническими проявлениями ПГПТ и уровнем кальция крови все пациенты были разделены на 3 группы в зависимости от уровня гиперкальциемии: легкая степень гиперкальциемии — 29 пациентов, умеренная — 16, тяжелая — 5. По результатам исследования статистически значимой связи между наличием отдельных клинических проявлений ПГПТ и степенью гиперкальциемии выявлено не было, однако отмечена статистическая тенденция между наличием отдельных клинических проявлений заболевания (гиперкальциурия, снижение массы тела, рвота, боль в животе, запоры, эзофагит, боль в ребрах, нарушение походки) и уровнем кальция крови, а также была выявлена положительная ассоциация между гиперкальциурией и гиперкальциемией. Кроме того, отмечено, что у пациентов с тяжелой гиперкальциемией количество клинических признаков значимо выше, чем у пациентов с легкой или умеренной степенью гиперкальциемии.

ЗАКЛЮЧЕНИЕ

ЗАКЛЮЧЕНИЕ. Проведенное исследование демонстрирует многообразие клинических проявлений ПГПТ, по поводу которых дети могут наблюдаться у врачей разных специальностей — педиатров, гастроэнтерологов, нефрологов, неврологов, травматологов-ортопедов. При наличии тошноты, утомляемости, боли в ногах, деформации нижних конечностей, низкотравматических переломов, мочекаменной болезни, гастрита необходимо исследовать уровень кальция в крови у детей.

BACKGROUND

BACKGROUND: Primary hyperparathyroidism (PHPT) in children is quite rare, with a prevalence of 2–5 cases per 100,000 children. Hypercalcemia in PHPT has a negative impact on the gastrointestinal tract, urinary, musculoskeletal and nervous systems. Timely diagnosis of the disease in children is difficult due to its rare occurrence and variety of clinical symptoms.

AIM

AIM: To study clinical manifestations of primary hyperparathyroidism in children depending on the degree of hypercalcemia.

MATERIALS AND METHODS

MATERIALS AND METHODS: Retrospective observational study with a prospective component 50 patients with primary hyperparathyroidism. All patients underwent a comprehensive laboratory and instrumental study at the Institute of Pediatric Endocrinology, Endocrinology Research Center of Russia in the period 2014–2023.

RESULTS

RESULTS: The clinical manifestations of primary hyperparathyroidism in children are very diverse. Weakness and fatigue were observed in 36% of patients (CI (23; 51)). Frequent manifestations of the gastrointestinal tract were nausea — in 20% (CI (10; 34)), gastritis — in 38%, (CI (25; 53)), duodenogastric reflux - in 24%, CI (13; 38). Hypercalciuria was detected in 64% of patients (CI (49; 77)), urolithiasis - in 36% (CI (23; 51). Complaints of leg pain were observed in 24% of patients (CI (13; 38)) deformity of the lower extremities was present in 20% (CI (10; 34)). 16% of patients had a history of low-traumatic fractures (CI (7; 29)). The median age of onset of the first clinical symptoms of PHPT in children was 13.7 years [10.6; 15.2]. At the time of diagnosis of the disease, 12 patients (24%) had no complaints and were examined due to incidentally detected hypercalcemia (n=3), hypercalciuria (n=1), and detected formations of the parathyroid gland according to ultrasound (n=5), with a family history of multiple endocrine neoplasia syndrome type 1 (n=3). To identify the relationship between the clinical manifestations of PHPT and blood calcium levels, all patients were divided into 3 groups depending on the level of hypercalcemia: mild hypercalcemia — 29 patients, moderate — 16, severe — 5. According to the results of the study, a statistically significant relationship between the presence of individual clinical manifestations of PHPT and the degree of hypercalcemia was not identified, however, a statistical tendency was noted between the presence of individual symptoms of the disease (hypercalciuria, weight loss, vomiting, pain in abdomen, constipation, esophagitis, rib pain, gait disturbance) and blood calcium levels, and a positive association was found between hypercalciuria and hypercalcemia. In addition, it was noted that in patients with severe hypercalcemia, the number of clinical signs is significantly higher than in patients with mild or moderate hypercalcemia.

CONCLUSION

CONCLUSION: The study demonstrates the variety of clinical manifestations of PHPT, for which doctors of various specialties — pediatricians, gastroenterologists, nephrologists, neurologists, orthopedic traumatologists, can observe children. In the presence of symptoms and diseases such as fatigue, nausea, pain in the legs, deformation of the lower extremities, low-traumatic fractures, urolithiasis, gastritis, it is necessary to examine the level of calcium in the blood in children.

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The authors declare that there are no conflicts of interest present.