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rickets type-2 (vitamin D-dependent rickets)
Vitamin D-dependent rickets.
Pathology:
1) genetic aberration 1,25 (OH)2 vit D receptor
2) osteomalacia
3) secondary hyperparathyroidism
Clinical manifestations:
-> generalized alopecia (frequent)
Laboratory:
-> serum chemistries
a) hypocalcemia
b) hypophosphatemia
c) elevated 1,25(OH)2 vit-D
d) elevated parathyroid hormone (PTH)
Management:
1) high-dose calcitriol
2) mineral supplements
3) relapse may occur despite continued treatment
General
hereditary rickets
Database Correlations
OMIM correlations
References
Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1258, 1328