The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene
Küçük Resim Yok
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Termedia Publishing House Ltd.
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Neonatal severe hyperparathyroidism (NSHPT) causes severe hypercalcaemia, metabolic bone disease, and potential neurodevelop-mental 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. © Copyright by PTEiDD 2022.
Açıklama
Anahtar Kelimeler
Casr; Cinacalcet; Severe Hyperparathyroidism, Cinacalcet; Vitamin D; Calcium; Calcium Sensing Receptor; Casr Protein, Human; Cinacalcet; Article; Article; Autotransplantation; Body Weight Loss; Bone Density; Breathing Rate; Calcium Blood Level; Case Report; Clinical Article; Diet; Feeding; Gene Expression; Gene Mutation; Gene Sequence; Genetic Analysis; Genetic Association; Genetic Screening; Head Circumference; Heart Rate; High Throughput Sequencing; Homozygosity; Human; Hyperparathyroidism; Male; Mutation; Newborn; Osteolysis; Parathyroidectomy; Polymerase Chain Reaction; Protein Blood Level; Sanger Sequencing; Thyroidectomy; Genetics; Hypercalcemia; Mutation; Newborn Disease; Primary Hyperparathyroidism; Calcium; Cinacalcet; Humans; Hypercalcemia; Hyperparathyroidism, Primary; Infant, Newborn; Infant, Newborn, Diseases; Male; Mutation; Parathyroidectomy; Receptors, Calcium-Sensing
Kaynak
Pediatric Endocrinology, Diabetes and Metabolism
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
28
Sayı
2
