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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Neonatal severe hyperparathyroidism: Further clinical and molecular delineation
European Journal of Pediatrics, Volume 170, No. 5, Year 2011
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Description
We report a newborn female from a consanguineous Sri Lankan family with clinical and biochemical features of neonatal severe hyperparathyroidism (NSHPT). Mutation screening of the calcium-sensing receptor (CASR) gene in genomic DNA revealed a homozygous truncating mutation (c.679C>T, predicting p.R227X), confirming the clinical diagnosis. Other mutations at the R227 position are reported to cause varying degrees of hypercalcemia and hyperparathyroidism, but this nonsense variant is novel and expected to induce unremitting hyperparathyroidism from birth onward. In our patient with NSHPT, early bisphosphonate therapy was crucial in counteracting the marked hypercalcemia and allowed for safe surgical intervention ("total" parathyroidectomy, "thymectomy and hemithyroidectomy") at 3 months of age. Conclusion: This report highlights the continuing challenges in diagnosis and management of this life-threatening condition. © 2010 Springer-Verlag.
Authors & Co-Authors
Ismail, Adel M.
Qatar, Doha
Hamad Medical Corporation
Soliman, A. T.
Qatar, Doha
Hamad Medical Corporation
Cole, David Edward C.
Canada, Toronto
University of Toronto
Ben-Omran, Tawfeg I.M.
Qatar, Doha
Hamad Medical Corporation
Qatar, Doha
Weill Cornell Medicine-qatar
Statistics
Citations: 19
Authors: 4
Affiliations: 3
Identifiers
Doi:
10.1007/s00431-010-1335-z
ISSN:
03406199
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Design
Randomised Control Trial
Participants Gender
Female