Albers Schonberg Disease

Definition

Definition of Albers Schonberg Disease
Albers-Schönberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized by an increased skeletal mass due to impaired bone and cartilage resorption. Following the assignment of the gene causing ADO II to chromosome 16p13.3, we now report seven different mutations in the gene encoding the ClCN7 chloride channel in all 12 ADO II families analysed. Additionally, a patient with the severe, autosomal recessive, infantile form of osteopetrosis (ARO) was identified as being homozygous for a ClCN7 mutation. From genotype–phenotype correlations, it seems that ADO II reflects a dominant negative effect, whereas loss-of-function mutations in ClCN7 do not cause abnormalities in heterozygous individuals. Because some ARO patients have mutations in both copies of the ClCN7 gene, ADO II is allelic with a subset of ARO cases.

Symptoms

Symptoms of Albers Schonberg Disease
Albers-Schonberg Disease Marble Bones Osteosclerosis Fragilis Generalisata

Causes

Causes of Albers Schonberg Disease
A syndrome of excessive calcification of bones causing marble like appearance with increased radiological density of the skeleton, characterized mainly by multiple fractures. Associated disorders usullay include anaemia, hepatomegaly, poor dentition, visual disorders, hearing disorders, facial paralysis, osteomyelitis of the mandible and maxilla, low blood calcium, and elevated serum phosphorus. Onset is variable.

Diagnosis

Diagnosis of Albers Schonberg Disease
The differential diagnosis includes other disorders which can cause diffuse osteosclerosis, such as hypervitaminosis D, and hypoparathyroidism, Paget's disease, diffuse bone metastasis of breast or prostate cancer intoxication with fluoride, lead or beryllium, and hematological disorders such as myelofibrosis, sickle cell disease and leukemia.

Treatment

Treatment of Albers Schonberg Disease
There is no cure, although curative therapy with bone marrow transplantion is being investigated in clinical trials. It is believed the healthy marrow will provide the sufferer with cells from which osteoclasts will develop.

Prognosis

Prognosis of Albers Schonberg Disease
Consult with your doctor.

Prevention

Prevention of Albers Schonberg Disease
Consult with your doctor.