ArticleEuropean journal of pediatrics2004
Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.
Article in European journal of pediatrics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 104 citations in OpenAlex.
- Long-term follow-up of neonatal severe hyperparathyroidism: redefining calcium management.Archives of endocrinology and metabolism · 2026Article
- Management of Neonatal Severe Hyperparathyroidism due to HomozygousMolecular syndromology · 2025Article
- Severe Hyperparathyroidism in a 3-year-old girl Due to Homozygous Inactivating Variant of theJCEM case reports · 2025Article
- Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024Review
- Disorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy.Journal of clinical medicine · 2022Review
- Rare diseases caused by abnormal calcium sensing and signalling.Endocrine · 2021Review
- Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.The Pan African medical journal · 2021Article
- Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.Frontiers in endocrinology · 2021Article
- Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.The Journal of clinical endocrinology and metabolism · 2020Article
- Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.British journal of pharmacology · 2018Review
- Review
- Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.Journal of molecular endocrinology · 2016Review
- Hereditary hyperparathyroidism--a consensus report of the European Society of Endocrine Surgeons (ESES).Langenbeck's archives of surgery · 2015Review
- Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients.Endocrinology, diabetes & metabolism case reports · 2015Article
- Calcium-sensing receptor 20 years later.American journal of physiology. Cell physiology · 2014Review
- Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review.The Journal of clinical endocrinology and metabolism · 2014Review
- Primary hyperparathyroidism in children and adolescents.Journal of the Chinese Medical Association : JCMA · 2012Review
- The abnormal phenotypes of cartilage and bone in calcium-sensing receptor deficient mice are dependent on the actions of calcium, phosphorus, and PTH.PLoS genetics · 2011Article
- Neonatal severe hyperparathyroidism: further clinical and molecular delineation.European journal of pediatrics · 2011Article
- Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function.The Journal of clinical endocrinology and metabolism · 2010Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledFamilial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant condition due to heterozygous loss of function calcium sensing receptor (CaSR) mutations. However, individuals who are homozygous for CaSR mutations have neonatal severe hyperparathyroidism (NSHPT), which unlike the relatively benign and asymptomatic FHH can be fatal without parathyroidectomy. We report three patients with NSHPT associated with marked hypercalcaemia and severe hyperparathyroidism with related skeletal demineralisation. We describe the novel use of intravenous pamidronate in NSHPT, to control severe hypercalcaemia in these patients prior to parathyroidectomy and in one individual as a rescue therapy to stabilise life-threatening demineralisation. Furthermore, a marked phenotypic heterogeneity was observed amongst four members from a large kindred with the same homozygous CaSR mutations: one patient would have died without parathyroidectomy in infancy; a second patient survived infancy but underwent parathyroidectomy in early childhood following severe symptomatic hypercalcaemic episodes; whilst the other two patients have survived to adolescence without parathyroidectomy. Additionally, in contrast to the literature these two individuals suffered minimal morbidity.
conclusionWe commend the short-term use of pamidronate in neonatal severe hyperparathyroidism to treat extreme hypercalcaemia and halt hyperparathyroid-driven skeletal demineralisation in preparation for parathyroidectomy. The remarkable degree of phenotypic variation demonstrated remains unexplained without functional studies; this variability highlights the challenge of treating this rare condition.
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