The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene

Fatma Özgüç Çömlek; Selma Demir; Hakan Gürkan; Mustafa İnan; Atakan Sezer; Emine Dilek; Filiz Kökenli

doi:10.5114/pedm.2022.115070

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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abstract:

Case report

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene

Fatma Özgüç Çömlek

¹

,

Selma Demir

²

,

Hakan Gürkan

²

,

Mustafa İnan

³

,

Atakan Sezer

⁴

,

Emine Dilek

¹

,

Filiz Tütüncüler Kökenli

¹

Pediatric Endocrinology, Trakya University, Turkey
Medical Genetic, Trakya University, Turkey
Pediatric Surgery, Trakya University, Turkey
General Surgery, Trakya University, Turkey

Pediatr Endocrinol Diabetes Metab 2022; 28 (2): 168–174

DOI: https://doi.org/10.5114/pedm.2022.115070

Online publish date: 2022/03/31

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AMA

Özgüç Çömlek F, Demir S, Gürkan H, et al. The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene. Pediatric Endocrinology Diabetes and Metabolism. 2022;28(2):168-174. doi:10.5114/pedm.2022.115070.

APA

Özgüç Çömlek, F., Demir, S., Gürkan, H., İnan, M., Sezer, A.,  & Dilek, E. et al. (2022). The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene. Pediatric Endocrinology Diabetes and Metabolism, 28(2), 168-174. https://doi.org/10.5114/pedm.2022.115070

Chicago

Özgüç Çömlek, Fatma, Selma Demir, Hakan Gürkan, Mustafa İnan, Atakan Sezer, Emine Dilek,  and Filiz T Kökenli. 2022. "The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene". Pediatric Endocrinology Diabetes and Metabolism 28 (2): 168-174. doi:10.5114/pedm.2022.115070.

Harvard

Özgüç Çömlek, F., Demir, S., Gürkan, H., İnan, M., Sezer, A., Dilek, E.,  and Kökenli, F. (2022). The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene. Pediatric Endocrinology Diabetes and Metabolism, 28(2), pp.168-174. https://doi.org/10.5114/pedm.2022.115070

MLA

Özgüç Çömlek, Fatma et al. "The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene." Pediatric Endocrinology Diabetes and Metabolism, vol. 28, no. 2, 2022, pp. 168-174. doi:10.5114/pedm.2022.115070.

Vancouver

Özgüç Çömlek F, Demir S, Gürkan H, İnan M, Sezer A, Dilek E et al. The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene. Pediatric Endocrinology Diabetes and Metabolism. 2022;28(2):168-174. doi:10.5114/pedm.2022.115070.

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Neonatal severe hyperparathyroidism (NSHPT) causes severe hypercalcaemia, metabolic bone disease, and potential neurodevelopmental deficits, all of which can be life-threatening. The use of calcimimetic agents can prevent or delay technically difficult parathyroidectomy in the newborn period. We present a 6-day-old male infant who presented with poor feeding, weight loss, and severe hypotonia. His total serum calcium and parathyroid hormone levels were very high (23.6 mg/dl and 1120 ng/dl, respectively). Based on these findings, the patient was diagnosed with NSHPT and was started on cinacalcet therapy until the genetic analysis results were available. Genetic analysis revealed a previously reported homozygous mutation in the CASR gene that was unresponsive to cinacalcet therapy in the literature. However, a normocalcaemic state unexpectantly occurred, which could be maintained with low calcium formula and cinacalcet therapy up to 13 months of age in the patient. Nevertheless, hypercalcaemia developed 2 months after he started a normal calcium-containing diet. Therefore, the patient underwent total parathyroidectomy at 17 months of age. We would like to emphasize, in light of this case, that cinacalcet treatment may be considered as first-line therapy for delaying parathyroidectomy in all cases with NSHPT, even in those who have an unresponsive cinacalcet CASR gene mutation.

keywords:

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene

Fatma Özgüç Çömlek 1 , Selma Demir 2 , Hakan Gürkan 2 , Mustafa İnan 3 , Atakan Sezer 4 , Emine Dilek 1 , Filiz Tütüncüler Kökenli 1

severe hyperparathyroidism, cinacalcet, CASR

Fatma Özgüç Çömlek

¹

,

Selma Demir

²

,

Hakan Gürkan

²

,

Mustafa İnan

³

,

Atakan Sezer

⁴

,

Emine Dilek

¹

,

Filiz Tütüncüler Kökenli

¹