ReviewMedicine2018
Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: A case report and literature review.
Review in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- Management of Neonatal Severe Hyperparathyroidism due to HomozygousMolecular syndromology · 2025Article
- Constipation as an Atypical Presentation of Hyperparathyroidism: A Case Report.The American journal of case reports · 2025Article
- Genetic causes of neonatal and infantile hypercalcaemia.Pediatric nephrology (Berlin, Germany) · 2022Review
- 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 · 2022Article
- Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.Frontiers in pediatrics · 2022Article
- Article
- The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.Experimental biology and medicine (Maywood, N.J.) · 2021Review
- Pediatric hyperparathyroidism: review and imaging update.Pediatric radiology · 2021Review
- A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug.Bone reports · 2021Article
- Rare diseases caused by abnormal calcium sensing and signalling.Endocrine · 2021Review
- Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleCalcium-sensing receptor (CaSR) mutations can cause life-threatening neonatal severe hyperparathyroidism (NSHPT). The medical management of NSHPT is often challenging and complex. Here, we present a case of NSHPT caused by a novel homozygous CaSR mutation. PATIENT CONCERNS: A Chinese female infant presented with poor feeding, constipation, severe hypotonia, and periodic bradycardia. Biochemistry tests revealed markedly elevated serum levels of Ca and parathyroid hormone (PTH). DIAGNOSES: Genetic sequencing revealed a previously undescribed CaSR mutation in exon 3 (c.242T>A; p.I81K). A diagnosis of NSHPT secondary to homozygously inherited familial hypocalciuric hypercalcemia syndrome was established.
interventionsCinacalcet was administered after the common treatments (low-calcium intake, hydration, and furosemide), calcitonin, and pamidronate therapy all failed. OUTCOMES: Serum Ca decreased and stabilized with cinacalcet therapy. During a 10-month follow-up, total calcium was maintained within the high-normal range and PTH was normalized. LESSONS: A trial of cinacalcet therapy might be undertaken in cases of NSHPT while definitive results of the genetic analysis are awaited.
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