Osteopetrosis

Osteoporosis is a rare genetic disorder that can lead to very precise and fragile bones. This is because patients with osteopetrosis do not have normal osteoclasts and bones need to function properly. For healthy bones, normal functioning osteoblasts and osteoclasts are required. Osteoblasts are responsible for creating new bone, osteoclasts are bone cells responsible for bone resorption, which is the destruction of bone and provides space for new bone marrow growth. Osteoclasts of marble bone disease patients are not functioning properly, so bones are unhealthy (Stocks, Wang, Thompson, Stocks, and Horwitz, 1998).

Osteoporosis is a rare hereditary bone disease that manifests in one of three forms: late osteopetrosis, congenital marble bone disease, and "marble bone" disease. Benign forms of osteoporosis develop in adulthood, but there are two malignant variants, namely congenital osteoporosis and marble bone disease, in infancy and childhood, respectively. In all three forms, the main feature is pathological changes in bone resorption of osteoclasts and thickening of cortical bone and lamellar bone. Osteoporosis usually occurs by chance in traditional radiographs and is usually asymptomatic; however, patients may develop with associated degenerative joint diseases. Congenital osteoporosis causes bone marrow failure and in most cases is fatal. Marble bone diseases bring short stature, brain calcification and mental retardation. Bone marrow transplantation is the only opportunity for congenital osteopetrosis patients to survive

In infant marble bone disease, bone marrow failure may occur. If left untreated, infantile marble bone disease usually causes severe anemia, bleeding, or infection, leading to the first decade of death. Patients in this state can not prosper, can not be late, and the incidence increases. After bone marrow transplantation (BMT), the prognosis of marble bone disease patients may change significantly. Patients with adult marble bone disease have good long-term survival. (See treatment and medication.)

Malignant infants with marble bone disease are usually evident at birth. In the first year after birth, about 75% of children with malignant babies suffering from marble bone disease develop blood problems such as anemia (decrease in red blood cell count) and thrombocytopenia (decrease in platelets). Other symptoms are as follows. This type of osteosclerosis is rare, and one in 250 thousand people develops. This happens when both parents have an abnormal gene (called autosomal recessive inheritance) and it is transmitted to children. Even though they have this gene, parents do not suffer from this disease. Every child may be born with ARO. If left untreated, the average lifespan of ARO children is less than 10 years.