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neonatal severe primary hyperparathyroidism
Epidemiology: rare
Pathology:
- Ca+2-sensing receptor (CASR) in kidney with diminished activity
Genetics:
- autosomal recessive
- associated with defects in CASR
- may be homozygous form of familial hypocalciuric hypercalcemia
Clinical manifestations:
- life-threatening disorder
- skeletal demineralization
- parathyroid hyperplasia
Laboratory:
- very high serum Ca+2
General
primary hyperparathyroidism
genetic disease of the endocrine system
neonatal disorder or disease
Database Correlations
OMIM 239200
References
UniProt :accession P41180