vitamin D-resistant rickets

X-linked dominant defect in renal tubular resorption of phosphate
presents in 1st yr
progressive limb deformities

xray:

less severe changes than other rickets
presents later

DDx features:

family hx
normal serum calcium
marked hypophosphatemia (decreased PO4)
no secondary hyperPTH

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© 2002, C.E. Kahn, Jr.
2002-04-18