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Case Reports
. 2022;28(2):168-174.
doi: 10.5114/pedm.2022.115070.

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 Kökenli  1
Affiliations
Case Reports

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 et al. Pediatr Endocrinol Diabetes Metab. 2022.

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: CASR.; cinacalcet; severe hyperparathyroidism.

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Conflict of interest statement

none declared.

Figures

Figure 1
Figure 1
Babygram of the patient demonstrating no evidence of demineralisation and fracture
Figure 2
Figure 2
Pedigree of the patient showing affected and unaffected family members. Genetic testing was performed only on the first-degree relatives (parent, brother, sister) of the patient.Parents and siblings were found to be carriers. The aunt has a suspected history of parathyroidectomy
Figure 3
Figure 3
Identifying CASR alterations in family members. Nucleotide sequence of part of CASR after PCR amplification of genomic DNA followed by direct analysis to show the sequence of both alleles. The proband is homozygous and both parents are heterozygous for a c.222_226delGATATmutation
Figure 4
Figure 4
Calcium values and cinacalcet dose changes at baseline and follow-up are shown in the graph
See this image and copyright information in PMC

References

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