Osteomalacia and Rickets
- A metabolic bone disorder due to decreased bone mineralization (calcification) and increased organic bone matrix that results in decreased bone density
- Referred to as renal osteodystrophy when secondary to renal disease
- System(s) affected: musculoskeletal
- Adults: elderly, rare and increasing
In the United States, occurs almost exclusively in breastfed infants without vitamin D supplementation or sun exposure
Etiology and Pathophysiology
- Abnormalities of mineralization ossification or interference caused by insufficient circulating levels of calcium, phosphate, or vitamin D
- Children: Rickets is a disease of the physes (growth plates) characterized not only by deficient mineralization of cartilage and osteoid but also by retarded endochondral ossification, which causes excessive accumulation of physeal cartilage, growth failure, and skeletal deformities.
- Adults: disorder of mineralization of newly formed bone matrix
- Impaired intestinal absorption of calcium/phosphorus due to celiac disease, cystic fibrosis, or postgastrectomy
- Hypophosphatemia from secondary hyperparathyroidism due to vitamin D deficiency is the primary cause in adults.
- Vitamin D–metabolism abnormalities, including hepatic or renal disease
- Resistance to vitamin D
- Impaired renal phosphate absorption associated with proximal or distal renal tubular defects
- Causes that inhibit mineralization of the growth plate and osteoid
- Alkaline phosphatase deficiency
- Aluminum toxicity
- Fluoride toxicity
- Primary hyperparathyroidism
- Drugs that may affect absorption or metabolism of calcium, phosphorus, or vitamin D
- Antiepileptic drugs
- Loop diuretics
- Drugs that inhibit mineralization: bisphosphonates
- Oncogenic osteomalacia
- Sickle cell
Heritable disorders of rickets include (2):
- Vitamin D–dependent rickets type 1—causes reduced or no renal synthesis of 1,25-dihydroxyvitamin D (calcitriol)
- Vitamin D–dependent rickets type 2—causes partial or complex resistance to calcitriol, resulting in elevated levels of calcitriol
- Vitamin D–dependent rickets type 3—prevents the action of calcitriol in transcription causing resistance and elevated levels calcitriol
- Autosomal dominant hypophosphatemic rickets—causes phosphaturia, decreased intestinal absorption of phosphorus, and decreased 25-hydroxyvitamin D (calcidiol), resulting in low calcitriol
- X-linked hypophosphatemic rickets—causes phosphaturia, decreased intestinal absorption of phosphorus, decreased calcidiol, resulting in low calcitriol
- Eating disorder
- Increased melanin skin pigmentation
- Vegetarian diet without vitamin supplementation
- Limited sunlight exposure (high latitude, overcrowding, religious customs limiting adequate skin exposure to UV irradiation, working indoors)
- Breastfeeding as a sole source of nutrition without vitamin D supplementation
- Breastfed infants born to mothers who themselves are vitamin D deficient
- Poor diet low in calcium and high in phytate
- Primary biliary cirrhosis
- Renal failure
- Adequate vitamin D intake: Encourage foods, such as fatty fish, cod liver oil, egg yolks, and fortified foods (3)[C].
- American Academy of Pediatrics recommends a minimum vitamin D intake of 400 IU/day starting within the first few days of life.
- Infants who consume >1 L/day of vitamin D–fortified formula or whole milk will receive the recommended vitamin D intake.
- Supplementation is recommended for breastfed infants and children consuming <1 L/day of vitamin D–fortified formula or milk.
- Adequate calcium intake:
- Ergocalciferol 600 IU/day for routine pregnancy
- Ergocalciferol 1,000 to 2,000 IU/day is safe if vitamin D–deficient.
Commonly Associated Conditions
- Children with vitamin D–deficiency rickets
- Secondary hyperparathyroidism
- Dilated cardiomyopathy
- Marrow fibrosis with pancytopenia or microcytic hypochromic anemia
- Dysregulation of immune function and cellular differentiation and proliferation
- Adults with osteomalacia
- Chronic renal disease
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Domino, Frank J., et al., editors. "Osteomalacia and Rickets." 5-Minute Clinical Consult, 27th ed., Wolters Kluwer, 2020. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117644/all/Osteomalacia_and_Rickets.
Osteomalacia and Rickets. In: Domino FJF, Baldor RAR, Golding JJ, et al, eds. 5-Minute Clinical Consult. Wolters Kluwer; 2020. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117644/all/Osteomalacia_and_Rickets. Accessed June 3, 2023.
Osteomalacia and Rickets. (2020). In Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (Eds.), 5-Minute Clinical Consult (27th ed.). Wolters Kluwer. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117644/all/Osteomalacia_and_Rickets
Osteomalacia and Rickets [Internet]. In: Domino FJF, Baldor RAR, Golding JJ, Stephens MBM, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2020. [cited 2023 June 03]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117644/all/Osteomalacia_and_Rickets.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Osteomalacia and Rickets ID - 117644 ED - Domino,Frank J, ED - Baldor,Robert A, ED - Golding,Jeremy, ED - Stephens,Mark B, BT - 5-Minute Clinical Consult, Updating UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117644/all/Osteomalacia_and_Rickets PB - Wolters Kluwer ET - 27 DB - Medicine Central DP - Unbound Medicine ER -