Other Names for this Disease
- Hypophosphatasia mild
Your QuestionI have hypophosphatasia and because of this condition, my kidneys do not fully function. I am also developing severe osteoporosis. Is there treatment for hypophosphatasia that will also increase my bone density without causing additional kidney problems?
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The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. Additional complications in infancy include poor feeding and a failure to gain weight, respiratory problems, and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney problems. These complications are life-threatening in some cases.
The forms of hypophosphatasia that appear in childhood or adulthood are typically less severe than those that appear in infancy. Early loss of primary (baby) teeth is one of the first signs of the condition in children. Affected children may have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation.
The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia.
Some medications are being evaluated. Preliminary results of one study suggest that dietary phosphate restriction could be helpful in the management of hypophosphatasia. In another study teriparatide (the recombinant human parathyroid hormone PTH 1–34) was successfully used to improve and resolve metatarsal stress fractures in adult hypophosphatasia. Enzyme replacement therapy by using a substitutive enzyme targeting mineralized tissue may be the most promising challenge of the next few years.
Infusion of normal alkaline phosphatase has provided only temporary improvement, but prolonged response has been observed after transplantation of marrow cells which express the normal enzymes.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. You can find studies involving hypophosphatasia by searching this database. In particular, there is a study titled, "Molecular Pathogenesis and Treatment of Hypophosphatasia" that may be of interest to you. To find this and additional studies, click on the link below and enter "hypophosphatasia" in the "Terms Search" box. Then click "Submit Query".
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to journals (print or online) or where you can get articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
To learn more about traditional therapies for osteoporosis you can visit the following link from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): which sponsors the NIH Osteoporosis and Related Bone Diseases ~ National Resource Center. http://www.niams.nih.gov/Health_Info/Bone/Osteoporosis/Medicine/default.asp
The Osteoporosis and Related Bone Diseases ~ National Resource Center, a part of the U.S. Department of Health and Human Services' National Institutes of Health (NIH), provides patients, health professionals, and the public with an important link to resources and information on metabolic bone diseases, including osteoporosis and hypophosphatasia.
NIH Osteoporosis and Related Bone Diseases ~ National Resource Center
National Institute of Health
2 AMS Circle
Bethesda, MD 20892-3676
Web site: http://www.osteo.org
More information on osteoporosis can be found at the following link from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.
- Hypophosphatasia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=hypophosphatasia. Accessed 2/22/2008.
- Michael P. Whyte. M.D.. Hypophosphatasia. The Magic Foundation. December 5, 2007; http://www.magicfoundation.org/www/docs/175. Accessed 2/19/2008.
- Etienne Mornet. Hypophosphatasia. Orphanet J Rare Dis. 2007;
- Kronenberg HM, Melmed S, Polonsky, KS, Larsen PR. Williams Textbook of Endocrinology, 11th edition. Philadelphia, PA : Saunders Elsevier; 2008;
- Khandwala HM, Mumm S, Whyte MP. Endocr Pract. Nov-Dec 2006; http://www.ncbi.nlm.nih.gov/pubmed/17229666?ordinalpos=2&itool=EntrezSystem2.PEntrez.
Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum. Accessed 1/1/1900.
- Whyte MP, Mumm S, Deal C. J Clin Endocrinol Metab. April 2007; http://www.ncbi.nlm.nih.gov/pubmed/17213282?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.
Pubmed_ResultsPanel.Pubmed_RVDocSum. Accessed 2/22/2008.