Glossary
Starting with A for "ACE inhibitor" and continuing through to Y for "Yolk Sac Tumour", we give you succinct explanations for scientific and medical terms in clear and simple words.
- Marble Bone DiseaseAlso known as osteopetrosis familiaris, osteosclerosis congenita diffusa or Albers-Schönberg disease.
Hereditary disease of the osteoclasts, the cells which break down bone substance. The disturbance in the activity of the osteoclasts is accompanied by unrestricted bone generation or regeneration and leads to a restriction in natural bone metabolism and thus to an increase in bone density (see disturbances in ossification).
Symptoms
The symptoms are very variable. The mildest forms of the disease are found by chance on X-rays, as a narrowing in the medullar cavity, typically as three apparent layers in the vertebral body or as osteosclerosis. Marble bone disease leads to bone pains. Spontaneous bone fractures and inflammation of the bone marrow occur frequently. Severe forms of the disease occur even in young babies, causing malfunction of the bone marrow, which then leads to anaemia and other blood diseases and to liver and spleen enlargement. The disease can also lead to blindness by pinching of the optic nerve, poor hearing and muscular spasm. This is the result of lack of calcium, as the release of ionised calcium from bone is hindered.
Treatment
Bone marrow transplantation. Caution! Danger of fractured bones during operations, for example of the jaw bone during operative removal of a tooth.
Glossary entries: Roche and Walter de Gruyter, Berlin