David Perlstein, MD, MBA, FAAP
Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
William C. Shiel Jr., MD, FACP, FACR
Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
In this Article
- Rickets facts
- What is rickets?
- What is the history of rickets?
- What causes rickets?
- What are rickets symptoms and signs?
- How do health-care professionals diagnose rickets?
- What is the treatment for rickets?
- Who are the specialists who treat rickets?
- What is the prognosis for rickets?
- Is it possible to prevent rickets?
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What is the history of rickets?
Roman descriptions of individuals with rickets can be found as early as the second century, and in the 1640s, the condition was well documented as a common bone ailment across England. Unfortunately, the scientifically proven cause of rickets was not identified until the 1920s, and by the 1930s, public-health initiatives recommended fortifying milk with vitamin D and cod-liver oil as a nutritional supplement for young infants and children. This led to a near eradication of rickets in the United States and other industrialized nations. Unfortunately, rickets has made a comeback and is still common in less-developed nations. Moreover, for a variety of reasons, rickets is seen more frequently amongst infants and children living in industrialized nations, often among more affluent populations.
What causes rickets?
Regardless of the type of rickets, the cause is always either due to a deficiency of vitamin D, calcium, or phosphate. Three common causes of rickets include nutritional rickets, hypophosphatemic rickets, and renal rickets.
Nutritional rickets, also called osteomalacia, is a condition caused by vitamin D deficiency. Vitamin D is a fat-soluble vitamin that is essential for the normal formation of bones and teeth and necessary for the appropriate absorption of calcium and phosphorus from the bowels. It occurs naturally in very small quantities in some foods such as saltwater fish (salmon, sardines, herring, and fish-liver oils). Vitamin D is also naturally synthesized by skin cells in response to sunlight exposure. It is necessary for the appropriate absorption of calcium from the gut.
Infants and children most at risk for developing nutritional rickets include dark-skinned infants, exclusively breastfed infants, and infants who are born to mothers who are vitamin D deficient. In addition, older children who are kept out of direct sunlight or who have vegan diets may also be at risk.
Hypophosphatemic rickets is caused by chronically low levels of phosphate in the blood. The bones become painfully soft and pliable. This is caused by a genetic dominant X-linked defect in the ability for the kidneys to control the amount of phosphate excreted in the urine. The individual affected is able to absorb phosphate and calcium, but the phosphate is lost through the kidneys into the urine. This is not caused by a vitamin D deficiency. Patients with hypophosphatemic rickets typically have obvious symptoms by 1 year of age. Treatment is generally through nutritional supplements of phosphate and calcitriol (the activated form of vitamin D).
Renal (kidney) rickets
Similar to hypophosphatemic rickets, renal rickets is caused by a number of kidney disorders. Individuals suffering from kidney disease often have decreased ability to regulate the amounts of electrolytes lost in the urine. This includes calcium and phosphate, and therefore the affected individuals develop symptoms almost identical to severe nutritional rickets. Treatment of the underlying kidney problem and nutritional supplementation are recommended for these patients.
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