ArticleBMC pediatrics2018
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
Article in BMC pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Management of Neonatal Severe Hyperparathyroidism due to HomozygousMolecular syndromology · 2025Article
- Neonatal Severe Hyperparathyroidism: Anaesthetic Considerations for Removal of Pea-size Glands in Children.Turkish journal of anaesthesiology and reanimation · 2025Article
- Neonatal Severe Hyperparathyroidism Causing Life-Threatening Hypercalcemia Treated With Medical and Surgical Management.JCEM case reports · 2024Article
- Genetics of hereditary forms of primary hyperparathyroidism.Hormones (Athens, Greece) · 2024Review
- Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia.Frontiers in endocrinology · 2024Article
- Ten-year follow-up report and neurologic sequelae in a case of neonatal severe primary hyperparathyroidism.Clinical case reports · 2023Article
- Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.Frontiers in pediatrics · 2022Article
- 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
- 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
- Therapeutic Opportunities of Targeting Allosteric Binding Sites on the Calcium-Sensing Receptor.ACS pharmacology & translational science · 2021Review
- Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.BMC pediatrics · 2019Article
- Surgical management of neonatal severe hyperparathyroidism.Annals of Saudi medicineReview
- Neonatal Severe Primary Hyperparathyroidism: A Series of Four Cases and their Long-term Management in India.Indian journal of endocrinology and metabolismArticle
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutation of the CaSR, treated by successful subtotal parathyroidectomy, who had an acute presentation of the disease, i.e. out-of hospital cardiorespiratory arrest. . CASE PRESENTATION: A 8-day-old female newborn was admitted to the NICU of University of Bari "Aldo Moro" (Italy) after a cardiorespiratory arrest occurred at home. Severe hypercalcemia was found and different drug therapies were employed (Furosemide, Cinacalcet and bisphosphonate), as well as hyperhydration, until subtotal parathyroidectomy, was performed at day 32. Our patient's mutation was never described before so that a strict and individualized long-term follow-up was started.
conclusionsThis case of NSHPT suggests that a near-miss event, labelled as a possible case of SIDS, could also be due to severe hypercalcemia and evidentiates the difficulties of the neonatal management of NSHPT. Furthermore, the identification of the specific CaSR mutation provides the substrate for prenatal diagnosis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.