Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
Other diagnostic factors
- bone pain
- growth faltering
- delayed achievement of motor milestones
- bony deformities
- muscle weakness
- carpopedal spasm
- numbness or paresthesias
- tetany
- hypocalcaemic seizures
Risk factors
- age 6 to 23 months
- inadequate sunlight exposure
- breastfeeding
- darker skin complexion
- calcium deficiency
- phosphate deficiency
- family history of rickets
- antacids, loop diuretics, corticosteroids, or anticonvulsants
Diagnostic investigations
1st investigations to order
- x-ray of a long bone
- serum calcium
- serum inorganic phosphorus
- serum parathyroid hormone level
- 25-hydroxyvitamin D levels (calcidiol)
- alkaline phosphatase and liver function tests
- serum creatinine and urea
- urinary calcium and phosphorus
Investigations to consider
- 1,25-dihydroxyvitamin D levels (calcitriol)
Treatment algorithm
symptomatic hypocalcaemia
calcium-deficient rickets: vitamin D deficiency
calcium-deficient rickets: calcium deficiency
calcium-deficient rickets: pseudovitamin D deficiency
calcium-deficient rickets: vitamin D resistance
hypophosphataemic rickets: X-linked
hereditary hypophosphataemic rickets with hypercalciuria
hypophosphataemic rickets: tumour-induced
Contributors
Authors
Carlos Palacio, MD, MPH, FACP
Professor of Medicine
Associate Program Director
Internal Medicine Residency
Department of Medicine
University of Florida College of Medicine
Jacksonville
FL
Disclosures
CP declares that he has no competing interests.
Firas Warda, MD
Endocrinology Fellow
Division of Endocrinology, Diabetes, and Metabolism
Department of Medicine
University of Florida College of Medicine
Jacksonville
FL
Disclosures
FW declares that he has no competing interests.
Acknowledgements
Professor Carols Palacio and Dr Firas Warda would like to gratefully acknowledge Dr Robert Olney, a previous contributor to this topic.
Disclosures
RO declares that he has no competing interests.
Peer reviewers
Phil Fischer, MD
Professor of Pediatrics
Mayo Clinic
Rochester
MN
Disclosures
PF declares that he has no competing interests.
Zulf Mughal, MD
Consultant in Paediatric Bone Disorders
Department of Paediatric Endocrinology
Royal Manchester Children's Hospital
UK
Disclosures
No disclosures
Arshag Mooradian, MD
Professor of Medicine
University of Florida College of Medicine
Jacksonville
FL
Disclosures
AM declares that he has no competing interests.
Differentials
- Hypophosphatasia
- Metaphyseal dysostoses
- Blount syndrome
More DifferentialsGuidelines
- Rickets: standard treatment guidelines
- Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
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