Neonatal Ağır Hiperparatiroidizm: Bir Olgu Sunumu

Yıl 2018, Cilt: 16 Sayı: 1, 155 - 164, 01.04.2018

Esin Yalınbaş Birgül Kırel Baran Tokar Necla İpar Neslihan Tekin

Öz

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

Kaynakça

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