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Last reviewed: 21 Apr 2025
Last updated: 13 Mar 2025

Summary

Definition

History and exam

Key diagnostic factors

  • older age
  • vitamin D and calcium deficient diets
  • lack of sunlight exposure
  • fractures
  • malabsorption syndromes
  • diffuse bone pain and tenderness
  • proximal muscle weakness
  • family history of osteomalacia
  • waddling gait

Other diagnostic factors

  • anticonvulsant therapy
  • steatorrhoea

Risk factors

  • dietary calcium and vitamin D deficiency
  • chronic kidney disease
  • limited sunlight exposure
  • inherited disorders of vitamin D and bone metabolism
  • hypophosphatasia
  • anticonvulsant therapy
  • mesenchymal tumours
  • Fanconi's syndrome

Diagnostic investigations

1st investigations to order

  • serum calcium level
  • serum 25-hydroxyvitamin D level
  • serum phosphate level
  • serum urea and creatinine
  • intact PTH
  • serum alkaline phosphatase
  • 24-hour urinary calcium

Investigations to consider

  • bone x-rays
  • 24-hour urinary phosphate
  • dual-energy x-ray absorptiometry
  • iliac crest biopsy with double tetracycline labelling

Treatment algorithm

Contributors

Authors

Bridget Sinnott, MD
Bridget Sinnott

Professor of Medicine

Medical College Georgia

Augusta

GA

Disclosures

BS declares that she has no competing interests.

Acknowledgements

Dr Bridget Sinnott would like to gratefully acknowledge Dr Jelena Kravarusic, a previous contributor to this topic. JK declares that she has no competing interests.

Peer reviewers

Udaya Kabadi, MD, FRCP(C), FACP, FACE

Director

Endocrinology

Department of Internal Medicine

VA Medical Center

University of Iowa

Iowa City

IA

Disclosures

UK declares that he has no competing interests.

Stephan Scharla, MD

Department of Internal Medicine

Endocrinology & Diabetes

LMU University Munich

Munich

Germany

Disclosures

None declared.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Holick MF, Brinkley NC, Bischoff-Ferrari HA, et al. Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2011;96:1911-1930.Full text  Abstract

Cystic Fibrosis Trust. European cystic fibrosis bone mineralisation guidelines. Feb 2011 [internet publication].Full text  Abstract

Munns CF, Shaw N, Kiely M, et al. Global consensus recommendations on prevention and management of nutritional rickets. 2016 Feb;101(2):394-415.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available here.

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