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rickets type 2A (hypocalcemic vitamin D-resistant rickets, HVDRR)
Pathology:
- end organ unresponsiveness to 1,25-dihydroxyvitamin D3
Genetics:
- most frequently autosomal recessive
- associated with defects in vitamin D3 receptor (type 2A)
Clinical manifestations:
- severe rickets
- secondary hyperparathyroidism
Laboratory:
- hypocalcemia
- serum PTH is elevated
General
hereditary rickets
Database Correlations
OMIM 277440
References
OMIM :accession 277440