Hipoparatiroidizm ve Psödohipoparatiroidi Nedeni ile Çocuk Endokronoloji Polikliniğine Başvuran Hastaların Değerlendirmesi

Abstract

Amaç: Hipoparatiroidi (HP) çocukluk çağında da görülmekle birlikle epidemiyolojisi tam olarak net değildir. Biz mevcut çalışma ile hipoparatiroidizm etiyolojisini, klinik profilini, prevalansını ve laboratuvar bulgularını ortaya koymayı amaçladık. Gereç ve Yöntem: Elektronik hastane kayıtlarından retrospektif olarak HP ve psödohipoparatiroidi tanısı ile takip edilmiş toplam 26 olguya ulaşıldı. Hastaların laboratuvar ve klinik bulguları, etiyolojisi, böbrek ultrasonografi verileri ve tedavi sonuçları not edildi. Bulgular: Hastaların 16’sı kadın, 10’u erkekti. Ortalama yaş 8,06 iken, ortalama takip süresi 3,9 yıl olarak bulundu. Etiyolojik incelemede sıklık sırası primer HP (%39), PHP (%35), DiGeorge sendromu (%9), cerrahi sonrası (%9), otoimmün poliglandüler sendrom (%4) ve talasemi majör (%4) şeklindeydi. Sonuç: Hipoparatiroidinin etiyolojisi, tanısı ve semptomlarını anlamak, yaşam kalitesini ve uzun süreli hastalık sonuçlarını iyileştirmeye yardımcı olabilir. Bununla birlikte, idiyopatik HP’nin nedenlerini açığa çıkarmak için daha fazla araştırma gereklidir ve genetik çalışmalar daha kolay olmalıdır

Keywords

• Epidemiyoloji
• Hipoparatiroidizm
• Psödohipoparatiroidizm

Evaluation of the Children with Hypoparathyroidism and Pseudohypoparathyroidism Presenting to an Endocrinology Outpatient Clinic

Abstract

Objectives: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to identify a clinical profile, prevalence, laboratory findings, etiologies of hypoparathyroidism, and pseudohypoparathyroidism. Materials and Methods: Patients with HP and PHP were identified in electronic hospital registries. We noted patient’s laboratory and clinical findings, etiology, renal ultrasonography, and treatment results. Results: Twenty-six patients were identified, of which 16 were female and 10 were male. Mean age was 8.06 years and average time of the disease was 3.9 years. The most frequent etiologies were primary hypoparathyroidism (39%), the other etiologies were PHP (35%), DiGeorge syndrome (9%), postsurgical (9%), autoimmune polyglandular syndrome (4%), and thalassemia major (4%). All patients were treated with active vitamin D. Conclusion: Understanding the etiology, diagnosis, and symptoms of hypoparathyroidism may help to improve quality of life and long-term disease outcomes. However, further research is necessary to unravel the causes of idiopathic HP and genetic studies should be easier

Keywords

• Epidemiology
• Hypoparathyroidism
• Pseudohypoparathyroidism

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