Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • bowing of the legs
  • widening of the ends of the long bones
  • delayed tooth eruption and early dental caries
  • chest deformity
  • throbbing, aching bone discomfort and/or irritability
  • head sweating
  • localised or generalised bone tenderness
  • proximal muscle weakness
  • rachitic rosary
  • frontal bossing
  • waddling gait

Other diagnostic factors

  • failure to thrive
  • delayed achievement of motor milestones
  • fatigue and malaise
  • symptoms of hypocalcaemia

Risk factors

  • inadequate sunlight exposure
  • increased skin pigmentation
  • age >50 years
  • inadequate dietary and supplemental vitamin D intake
  • malabsorption
  • obesity
  • medication use
  • genetic mutations
  • tumour
  • chronic kidney disease
  • granulomatous disorders
  • primary hyperparathyroidism
  • hyperthyroidism

Diagnostic investigations

1st investigations to order

  • serum 25-hydroxyvitamin D
  • serum alkaline phosphatase
  • serum calcium
  • fasting serum phosphate
  • plain-film radiographs of knees and wrists
Full details

Investigations to consider

  • intact PTH
  • serum 1,25-dihydroxyvitamin D
  • bone density (DEXA) scan
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Program Director for the General Clinical Research Unit (GCRU)

Professor of Medicine, Physiology, and Biophysics

Department of Medicine

Section of Endocrinology, Diabetes, and Nutrition

Vitamin D, Skin, and Bone Research Laboratory

Boston University School of Medicine

Boston

MA

Disclosures

MFH declares that he has no competing interests. MFH is an author of a number of references cited in this monograph.

Peer reviewers VIEW ALL

Assistant Professor of Medicine

Division of Endocrinology

Metabolism and Lipids

Emory University School of Medicine

Atlanta

GA

Disclosures

VT is an author of a reference cited in this monograph.

General Practitioner (GP)

Resident at the Department of Internal Medicine

Division of Endocrinology and Nuclear Medicine

Medical University of Graz

Graz

Austria

Disclosures

SP is an author of a reference cited in this monograph.

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