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Article

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy.

European journal of pediatrics - 1 Oct 2004

Waller Simon, Kurzawinski Tom, Spitz Lewis, Thakker Rajesh, Cranston Treena, Pearce Simon, Cheetham Tim, van't Hoff William G

Abstract excerpt

UNLABELLED: Familial 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...

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PMID: 15241688
DOI: 10.1007/s00431-004-1491-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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