The Center for Metabolic Bone Disease and Molecular Research (referred to as "the research center") was designed to provide a variety of services to children with bone disorders caused by nutritional, chemical, or glandular problems - metabolic in nature. These disorders are often genetically transmitted (passed down from generation to generation). The research center diagnoses, treats, and investigates the causes of over 100 rare bone disorders and provides medical therapy when available.

The research center also serves to train pediatric geneticists, endocrinologists, rheumatologists and medical students. Directed by Dr. Michael P. Whyte, it provides an international resource for assisting other physicians with difficult diagnostic and therapeutic problems.

Research Center Staff

The nursing staff of the research center believes the care of its children demand the highest level of compassion and proficiency. To accomplish our research goals, nurses are specially trained to abide by strict adherence to dietary and laboratory protocol guidelines. Precise record-keeping occurs during hospitalization to enable accurate patient assessments. The nursing staff enjoys special relationships with our patients and their families due to the ongoing care given to each patient over many years. They serve as a knowledgeable resource and advocate for each patient and family.

The Research Nutritional Services department is designed, equipped and staffed to provide nutritious and appetizing meals while matching the children's usual intake of calcium and phosphorous. This provides valid and reliable nutritional information to the medical staff.

The hospital's laboratory strives to provide timely and accurate analysis of lab samples from our patients to aid in diagnosis and to monitor therapy. In addition to testing routine clinical samples, the laboratory develops new procedures as needed for research projects.

Patients
Research center patients are seen during a scheduled inpatient admission of 4 � days, and return each year to two years until the age of 21. Patients may also be scheduled for a research center outpatient clinic visit between admissions, if necessary. Family studies are another critical function of the research center to assist physicians in diagnosing disorders and determining the genetic inheritance.

Disorders Seen
Of the more than 100 rare diseases seen at the research center, the following provides information about our largest populations seen:

Osteogenesis imperfecta (OI) is a complex hereditary form of osteoporosis (porous bones) that affects children and adults. Imperfectly formed or deficient amounts of a bone protein (collagen) caused by a genetic defect resulting in brittle bones. Patients may suffer fractures and the skeleton may be deformed. Because collagen is found throughout the body, other areas of the body are affected such as ligaments, teeth, and sclera (whites of eyes). Affected small bones in the ear may cause hearing difficulties. This disorder ranges from very mild with the child appearing normal height and with a normal skeleton, to severe in which hundreds of fractures can occur over the child's lifetime and result in severe skeletal deformity.

Patients with OI must take precautions and avoid contact sports and activities that may jar the back such as jumping or landing firmly on their feet or bottom. Patient and family education, conducted by the nursing staff, is individualized to each patient.

The research center is investigating a medication that has recently become available that may improve bone mass and prevent fractures in these children.

Many patients have a form of rickets called X-linked Hypophosphatemia (XLH). This is the most common form of inherited rickets, which causes soft bones, bowing of the legs, and short stature. The disease resembles the rickets caused by dietary deficiency of vitamin D, but in XLH children are resistant to even large doses of vitamin D. Vitamin D helps guard against low levels of calcium and is necessary for strong, healthy bones. The research center currently follows the largest group of children anywhere with XLH.

Potent forms of vitamin D and mineral supplements have proven very effective in a long-term Research Center study of XLH. Healing of rickets, correction of bone deformity without surgery, and improved growth rates and stature have been seen when compliance with medical therapy is maintained. These medications must be taken by the patients throughout their childhood and monitored closely by research staff to assure safe and optimal results.

Hypophosphatasia is an inherited metabolic bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP). Abnormalities in the gene that make this enzyme are defective, causing calcifications of bones seen in infants, children and adults. Possible symptoms include short stature, frequent fractures, skeletal deformity, dental problems and osteopenia (thin bones). This disorder can range from only mild dental problems that resolve with time, or could be as severe as being detected in the womb with severe deformities of the infant noted at birth.

Excellent dental care and ongoing monitoring of blood and urine samples assists the physicians in determining each patients' needs as the children become older.