Vitamin-D deficiency rickets, a disorder that becomes apparent during infancy or childhood, is the result of insufficient amounts of vitamin D in the body. The vitamin deficiency may be caused by poor nutrition, a lack of exposure to the sun, or malabsorption syndromes in which the intestines do not adequately absorb nutrients from foods. Vitamin D is needed for the metabolism of calcium and phosphorus in the body, which, in turn affects how calcium is deposited in the bones; thus it is considered essential for proper bone development and growth. Major symptoms of vitamin D deficiency rickets include bone disease, restlessness, and slow growth. This disorder is rare in the United States but is not uncommon in certain areas of the world.
Symptoms of vitamin D deficiency rickets in infants may be restlessness, lack of sleep, slow growth, a delay in crawling, sitting or walking, thinness of the top and back of the skull (craniotabes), swelling of the skull (bossing), bead-like nodules where the ribs and their cartilages join due to the rapid growth of the arms and the rib cage (rachitic rosary), and a delay in the closing of the skull bone.
Some doctors describe the symptoms of rickets as aches and pains and possible enlarged bones along with swelling at the joints such as wrists and ankles.
If vitamin D deficiency rickets is not treated, the ends of the long bones may become enlarged, the legs may become bowed and knock-knees may result. Muscles can become weak and the chest may become deformed due to the pull of the diaphragm on the ribs that have been weakened by rickets (Harrison’s groove). Abnormal development and decay of teeth may also occur.
In more severe, untreated cases of this disorder the bones may become fragile and fractures may easily occur. Convulsions, muscle twitching and sharp bending of the wrist and ankle joints (tetany spasms) may also be present. Occasionally, when there is too little calcium in the blood due to the lack of vitamin D (hypocalcemia), mental retardation may occur.
Vitamin D deficiency rickets can be caused by a lack of vitamin D in the diet, a lack of exposure to the sun, or malabsorption syndromes in which there is an inability of the intestines to adequately absorb nutrients from foods.
Nursing mothers who have a diet deficient in vitamin D may get rickets themselves and pass this condition on to the newborn child.
In areas of the world where cultural habits limit exposure to sun, or the amount of sun in a day or season is limited, Vitamin D deficiency rickets tends to be more prevalent.
Vitamin D deficiency rickets affects males and females in equal numbers. Babies of nursing mothers whose diet is deficient in vitamin D can be affected with this disorder.
Although vitamin D deficiency rickets is rare in the United States, children who are dark skinned and living in cloudy northern cities as well as children on restricted diets due to cultural or religious beliefs are more likely to develop this disorder.
Rickets is more common in regions of Asia where there is a lack of daylight and/or low intake of meat due to a vegetarian diet. Northern Yemen and Kuwait are also areas where Vitamin D deficiency rickets are prevalent due to lack of exposure to the sun because of cultural practices.
In children, the suspected joints are X-rayed and characteristic changes in the bone may be detected. Blood tests to determine the levels of calcium and phosphorus will be undertaken as well. A bone biopsy is performed in difficult cases.
Vitamin D deficiency rickets can be prevented by providing a normal balanced diet to infants and children, assuming that they are exposed to adequate amounts of sun.
Treatment of vitamin D deficiency rickets is accomplished with doses of vitamin D given daily until the bone disease is cured. The dose of vitamin D can then be reduced to the daily recommended requirement.
In more severe cases of vitamin D deficiency rickets when cramps, convulsions, muscle twitching and sharp bending of the ankle and wrist joints (tetany) is present the treatment with vitamin D is supplemented with calcium salts intravenously.
In some instances surgery may be required to correct distortions of bone and muscle.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
The National Institute of Diabetes and Digestive and Kidney Diseases is conducting two clinical trials involving patients with rickets at the Warren G. Magnuson Clinical Center in Bethesda. See above for contact information.
Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:35-38.
Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:894.
Larson DE. ed. Mayo Clinic Family Health Book. New York, NY: William Morrow and Company, Inc; 1996:896-97.
Bennett JC, Plum F. Eds. Cecil Textbook of Medicine. 20th ed. W.B. Saunders Co., Philadelphia, PA; 1996:1359-65.
Collier S, Fulhan J, Duggan C. Nutrition for the pediatric office: update on vitamins, infant feeding, and food allergies. Curr Opin Pediatr. 2004;16:314-20.
Reginato AJ, Coquia JA. Musculoskeletal manifestations of osteomalacia and rickets. Best Pract Res Clin Rheumatol. 2003;17:1063-80.
Hollis BW, Wagner CL. Assessment of dietary vitamin D requirements during pregnancy and lactation. Am J Clin Nutr. 2004;79:717-26.
Molgaard C, Michaelsen KF. Vitamin D and bone health in early life. Proc Nutr Soc. 2003;62:823-28.
Berg EE. Rickets. Orthop Nurs. 2004;23:53-55.
Specker B. Nutrition influences bone development from infancy through toddler years. J Nutr. 2004;134:691S-695S.
Heaney RP. Long-latency deficiency disease: insights from calcium and vitamin D. Am J Clin Nutr. 2003;78:912-19.
Wharton B, Bishop N. Rickets. Lancet. 2003;362:1389-400.
Gartner LM, Greer FR, et al. Prevention of Rickets and Vitamin D Deficiency: New Guidelines for Vitamin D Intake. Pediatrics. 2003;111:908-10.
FROM THE INTERNET
Rickets. Medical Encyclopedia. MedlinePlus. Update Date: 7/17/2004. 3pp.
Finberg L. Rickets. emedicine. Last Updated: December 18, 2003. 8pp.
Garabédian M. Vitamin D resistant rickets. January 2002. 2pp.
Paterson C. Osteomalacia and rickets (vitamin D deficiency). netdoctor.co.uk. nd. 2pp.
Rickets / Vitamin D Deficiency in Children. MEDINDIA. Last Updated On 22-Dec-2004. 5pp. and 5pp.
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