Esin YALINBAŞ, Birgül KIREL, Baran TOKAR, Necla İPAR, Neslihan TEKİN

Neonatal Ağır Hiperparatiroidizm: Bir Olgu Sunumu

GİRİŞ: Neonatal ağır hiperparatiroidizm (NSHPT), kalsiyum algılayan reseptör (CaSR) geninde meydana gelen homozigot- inaktive edici mutasyonların neden olduğu, nadir görülen bir hastalıktır. Bu bebeklerde doğumdan hemen sonra ağır hiperkalsemi, hiperparatiroidizm, yaşamı tehdit edici kemik hastalığı, respiratuar distress sendromu ve gelişme geriliği gözlenir. Eğer neonatal dönemde acil olarak total paratiroidektomi yapılmaz ise ölümcül olabilir veya yaşayanlarda ağır nöro-gelişimsel sekel bırakır. OLGU SUNUMU: Üç günlükken NSHPT tanısı konulan, klasik hiperkalsemi tedavisi ve pamidronat infüzyonlarına cevap vermediği için yaşamın üçüncü ayında subtotal paratiroidektomi yapılan NSHPT’li bir olgu sunulmuştur. Hastamızın serum kalsiyum ve parathormon düzeyleri cerrahiden hemen sonra normal düzeylere indi. Ancak bir yaşında iken yapılan kontrolünde orta derecede hiperkalsemi ile beraber normal düzeyinin üst sınırında PTH düzeyleri saptandı. Bu yazıda NSHPT’li bir süt çocuğunun takip ve tedavisinde edindiğimiz tecrübe anlatılmıştır.ABSTRACT Introduction: Neonatal severe hiperparathroidism (NSHPT) due to homozygous inactivating mutations in the CaSR gene is a very rare disease. NSHPT manifests severe hypercalcemia, hyperparathyroidism and life-threatening bone disease, respiratory distress syndrome and failure to thrive shortly after birth. If total parathyroidectomy is not performed urgently during the neonatal period, it can be fatal or result in devastating neurodevelopmental complications in the survivors. Case Report: An infant diagnosed with NSHPT at 3 days of age is presented here. Since, the hypercalcemia did not respond to the classical treatment of hypercalcemia and pamidronate infusions, subtotal parathroidectomy was performed at three month of age. The serum calcium and parathyroid hormone (PTH) levels decreased to the normal levels immediately after the surgery. Butt, moderate hypercalcemia with upper limits of normal PTH levels were determined. at one year of age. Herein, we report our experience in treatment and follow-up of an infant with NSHPT.

Anahtar Kelimeler:

hiperkalsemi, hiperparatiroidizm, paratiroidektomi, yenidoğan, pamidronat

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