Hereditary hypophosphataemic rickets: report of a family from the Indian subcontinent

Postgrad Med J. 1999 Aug;75(886):485-7. doi: 10.1136/pgmj.75.886.485.

Abstract

Nutritional deficiency continues to be an important cause of rickets in the underdeveloped and developing parts of the world. In the western hemisphere, predominantly non-nutritional forms of rickets and osteomalacia are now seen. In this report we discuss a family with X-linked hypophosphataemic rickets from the Kashmir region of the Indian subcontinent (which is an uncommon entity here).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers / blood
  • Child, Preschool
  • Female
  • Humans
  • Hypophosphatemia, Familial / blood
  • Hypophosphatemia, Familial / genetics*
  • India / ethnology
  • Male
  • Middle Aged
  • Pedigree
  • Vitamin D / analogs & derivatives
  • Vitamin D / blood

Substances

  • Biomarkers
  • Vitamin D
  • 1,25-dihydroxyvitamin D
  • 25-hydroxyvitamin D