Albers-Schönberg disease

Albers–Schönberg disease (Osteopetrosis) is a very rare hereditary disorder, characterized by increased hardness of bone tissue, although even though the bones are hard, they are very brittle and therefore more prone to fractures. Under normal circumstances, there are two types of cells in bone tissue. One type forms bone and the other type breaks it down. If an imbalance occurs between these two types of cells, bone involvement develops (osteoporosis, osteopetrosis, and others).
Osteopetrosis — Albers–Schönberg disease — is caused by a mutation of a gene that encodes an enzyme involved in the formation of bone tissue, and the bone is therefore produced in excessive amounts. Inheritance is autosomal recessive.

Symptoms:

Symptoms are present already in childhood or young age. The bones are excessively fragile, fractures are frequently present, and scoliosis of the spine. Typical is also the presence of bone infections — osteomyelitis, anemia.

Diagnosis:

It is performed on the basis of X‑ray examination and the symptoms listed below, laboratory testing, and genetic testing. Sometimes it is asymptomatic and found accidentally on an X‑ray performed for another reason.

Treatment:

The only possible and effective treatment is a bone marrow transplant, and that at an early age. The disease may also be treated symptomatically by administering calcium and vitamin D to strengthen the bones. Mild osteopetrosis may cause no symptoms and pose no problems.

• začiatok príznakov už v detstve alebo v mladosti
• nadmerná tvorba kostného tkaniva
• krehké kosti
• nedostatočný rast
• deformity kostry
• zvýšené riziko zlomenín (ich častý vznik)
• anémia
• kostné infekcie - osteomyelitída
• zväčšenie sleziny a pečene (hepatosplenomegália)
• skolióza chrbtice, spinálne abnormality
• artritída bedier