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 · 7 authors, 4 centres

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TL;DR

The central result is that cinacalcet combined with a calcium-restricted diet successfully maintained normocalcemia and delayed parathyroidectomy until 13 months of age.

Full summary

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Initial standard treatments like hydration and pamidronate were ineffective. The patient was started on cinacalcet, a calcimimetic, which, along with a calcium-restricted diet, successfully maintained normocalcemia. The primary implication is that an empirical trial of cinacalcet is justified in NSHPT cases to delay complex infant parathyroidectomy, even if the long-term response is not sustained.

STUDY TYPE

case_report

SPECIALTY

pediatrics

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ORIGINAL PAPER

PMC10214968

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

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ABSTRACT

Abstract 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: severe hyperparathyroidism, cinacalcet, CASR

CITATION EXPORT

Fatma Özgüç Çömlek, Selma Demir, Hakan Gürkan 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). https://doi.org/10.5114/pedm.2022.115070

AUTHORS

7 · 4 CENTRES

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

1Department of Pediatric Endocrinology, Faculty of Medicine, Trakya University, Turkey
2Department of Medical Genetic, Faculty of Medicine, Trakya University, Turkey
3Department of Pediatric Surgery, Faculty of Medicine, Trakya University, Turkey
4Department of General Surgery, Faculty of Medicine, Trakya University, Turkey