[Clinical polymorphism of primary hyperparathyroidism in children]

Area of Science:

• Pediatric Endocrinology
• Metabolic Bone Disease
• Calcium Homeostasis Disorders

Background:

• Primary hyperparathyroidism (PHPT) is rare in children (2-5 per 100,000), causing significant gastrointestinal, urinary, musculoskeletal, and nervous system issues.
• Diagnosis is challenging due to rarity and varied clinical presentations, impacting timely intervention.

Purpose of the Study:

• To investigate the clinical manifestations of PHPT in pediatric patients.
• To analyze the relationship between these manifestations and the degree of hypercalcemia.

Main Methods:

• A retrospective and prospective observational study of 50 pediatric PHPT patients.
• Comprehensive laboratory and instrumental assessments were conducted between 2014-2023.

Main Results:

• Clinical signs included fatigue (36%), GI issues (nausea 20%, gastritis 38%), urinary problems (hypercalciuria 64%, urolithiasis 36%), and musculoskeletal complaints (leg pain 24%, fractures 16%).
• No direct correlation was found between hypercalcemia severity and specific symptoms, but a tendency existed for more symptoms with higher calcium levels.
• Hypercalciuria showed a positive association with hypercalcemia, and severe hypercalcemia cases had more clinical signs.

Conclusions:

• PHPT in children exhibits diverse clinical features requiring multidisciplinary care.
• Symptoms like fatigue, GI distress, leg pain, and fractures warrant blood calcium level assessment in children.