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

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dc.authorscopusid57201323232
dc.authorscopusid14037106700
dc.authorscopusid54887131700
dc.authorscopusid7003503034
dc.authorscopusid24598133700
dc.authorscopusid57194006914
dc.authorscopusid57238619600
dc.contributor.authorÇömlek F.Ö.
dc.contributor.authorDemir S.
dc.contributor.authorGürkan H.
dc.contributor.authorİnan M.
dc.contributor.authorSezer A.
dc.contributor.authorDilek E.
dc.contributor.authorKökenli F.T.
dc.date.accessioned2024-06-12T10:26:25Z
dc.date.available2024-06-12T10:26:25Z
dc.date.issued2022
dc.description.abstractNeonatal 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.en_US
dc.identifier.doi10.5114/pedm.2022.115070
dc.identifier.endpage174en_US
dc.identifier.issn2083-8441
dc.identifier.issue2en_US
dc.identifier.pmid35399047en_US
dc.identifier.scopus2-s2.0-85134632215en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage168en_US
dc.identifier.urihttps://doi.org/10.5114/pedm.2022.115070
dc.identifier.urihttps://hdl.handle.net/20.500.14551/16840
dc.identifier.volume28en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTermedia Publishing House Ltd.en_US
dc.relation.ispartofPediatric Endocrinology, Diabetes and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCasr; Cinacalcet; Severe Hyperparathyroidismen_US
dc.subjectCinacalcet; 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-Sensingen_US
dc.titleThe efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR geneen_US
dc.title.alternativeSkuteczno?? leczenia cynakalcetem w opó?nianiu paratyroidektomii w przypadku ci??kiej nadczynno?ci przytarczyc u noworodków spowodowanej homozygotyczn? mutacj? w genie CASRen_US
dc.typeArticleen_US

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