Abstract
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.
References
- 1. Egbuna OI, Brown EM. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol 2008;22:129-48.
- 2. Arnold A, Lautre K. Genetics of hyperparathroidism including parathroid cancer. In: Genetic diagnosis of endocrine disorders. Weiss RE, Refetoff S (eds). first edition. USA: Elsevier Comp; 2010. p. 141-8.
- 3. Varghese J, Rich T, Jimenez C. Benign familial hypocalciuric hypercalcemia. Endocr Pract 2011;17:13-7.
- 4. Pearce S, Steinmann B. Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism. Clin Endocrinol 1999;50:691-3.
- 5. Fox L, Sadowsky J, Kevin P, Kidd A, Murdoch J, David E.C, et al. Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. Pediatrics 2007;120:1350-4.
- 6. Obermannova B, Banghova K, Sumnik Z, Dvorakova HM, Betka J, Fencl F, et al. Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. Eur J Pediatr 2009;168:569-73.
- 7. . Bai M, Pearce SH, Kifor O, Trivedi S, Stauffer UG, Thakker RV, et al. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 1997;99:88-96.
- 8. Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, Pearce S, et al. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr 2004;163:589-94.
- 9. Al-Khalaf FA, Ismail A, Soliman AT, Cole DE, Ben-Omran T. Neonatal severe hyperparathyroidism: further clinical and molecular delineation. Eur J Pediatr 2011;170:625- 31.
- 10. Reh CM, Hendy GN, Cole DE, Jeandron DD. Neonatal hyperparathroidism with a heterozygous calcium-sensing receptor (CaSR) R185Q mutation: clinical benefit from cinacalcet. J Clin Endocrinol Metab 2011;96:E707-12.
- 11. Cohen A, Silverberg SJ. Calcimimetics: therapeutic potential in hyperparathyroidism. Curr Opin Pharmacol 2002;2:734-9.
- 12. Brown EM. Clinical utility of calcimimetics targeting the extracellular calcium-sensing receptor (CaSR). Biochem Pharmacol 2010;80:297-307.
- 13. Timmers HJ, Karperien M, Hamdy NA, de Boer H, Hermus AR. Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to de novo inactivating mutation of the calcium-sensing receptor. J Intern Med 2006;260:177-82.
- 14. Alon US. VandeVoorde RG. Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. Pediatr Nephrol 2010;25:1747-50.
- 15. Al-Shanafey S, Al-Hosaini R, Al-Ashwal A, Al-Rabeeah A. Surgical management of severe neonatal hyperparathyroidism: one center's experience. J Pediatr Surg. 2010;45:714-7.
- 16. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, et al. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995;96:2683-92.
- 17. Lam CW, Lee KF, Chan AO, Poon PM, Law TY, Tong SF. Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. Clin Chim Acta 2005;360:167-72.
Abstract
References
- 1. Egbuna OI, Brown EM. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol 2008;22:129-48.
- 2. Arnold A, Lautre K. Genetics of hyperparathroidism including parathroid cancer. In: Genetic diagnosis of endocrine disorders. Weiss RE, Refetoff S (eds). first edition. USA: Elsevier Comp; 2010. p. 141-8.
- 3. Varghese J, Rich T, Jimenez C. Benign familial hypocalciuric hypercalcemia. Endocr Pract 2011;17:13-7.
- 4. Pearce S, Steinmann B. Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism. Clin Endocrinol 1999;50:691-3.
- 5. Fox L, Sadowsky J, Kevin P, Kidd A, Murdoch J, David E.C, et al. Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. Pediatrics 2007;120:1350-4.
- 6. Obermannova B, Banghova K, Sumnik Z, Dvorakova HM, Betka J, Fencl F, et al. Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene. Eur J Pediatr 2009;168:569-73.
- 7. . Bai M, Pearce SH, Kifor O, Trivedi S, Stauffer UG, Thakker RV, et al. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 1997;99:88-96.
- 8. Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, Pearce S, et al. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr 2004;163:589-94.
- 9. Al-Khalaf FA, Ismail A, Soliman AT, Cole DE, Ben-Omran T. Neonatal severe hyperparathyroidism: further clinical and molecular delineation. Eur J Pediatr 2011;170:625- 31.
- 10. Reh CM, Hendy GN, Cole DE, Jeandron DD. Neonatal hyperparathroidism with a heterozygous calcium-sensing receptor (CaSR) R185Q mutation: clinical benefit from cinacalcet. J Clin Endocrinol Metab 2011;96:E707-12.
- 11. Cohen A, Silverberg SJ. Calcimimetics: therapeutic potential in hyperparathyroidism. Curr Opin Pharmacol 2002;2:734-9.
- 12. Brown EM. Clinical utility of calcimimetics targeting the extracellular calcium-sensing receptor (CaSR). Biochem Pharmacol 2010;80:297-307.
- 13. Timmers HJ, Karperien M, Hamdy NA, de Boer H, Hermus AR. Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to de novo inactivating mutation of the calcium-sensing receptor. J Intern Med 2006;260:177-82.
- 14. Alon US. VandeVoorde RG. Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. Pediatr Nephrol 2010;25:1747-50.
- 15. Al-Shanafey S, Al-Hosaini R, Al-Ashwal A, Al-Rabeeah A. Surgical management of severe neonatal hyperparathyroidism: one center's experience. J Pediatr Surg. 2010;45:714-7.
- 16. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, et al. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995;96:2683-92.
- 17. Lam CW, Lee KF, Chan AO, Poon PM, Law TY, Tong SF. Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. Clin Chim Acta 2005;360:167-72.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Olgu |
| Authors | |
| Publication Date | April 1, 2018 |
| Published in Issue | Year 2018 Volume: 16 Issue: 1 |