rickets type-2 (vitamin D-dependent rickets)

Introduction

Vitamin D-dependent rickets.

Pathology

• genetic aberration 1,25 (OH)2 vit D receptor
• osteomalacia
• secondary hyperparathyroidism

Clinical manifestations

• generalized alopecia (frequent)

Laboratory

• serum chemistries
  • hypocalcemia
  • hypophosphatemia
  • elevated 1,25(OH)2 vit-D
  • elevated parathyroid hormone (PTH)

Management

• high-dose calcitriol
• mineral supplements
• relapse may occur despite continued treatment

More general terms

• hereditary rickets

Database

• OMIM: https://mirror.omim.org/entry/277420
• OMIM: https://mirror.omim.org/entry/600785