NEURO-HISTOLOGICAL FINDINGS IN OSTEOPETROSIS (ALBERS SCHONBERG DISEASE)
نویسندگان
چکیده
منابع مشابه
Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis).
BACKGROUND Albers-Schönberg disease, or autosomal dominant osteopetrosis type II (ADO2), is caused by ineffective osteoclastic bone resorption resulting from mutations in the chloride channel 7 (ClCN7) gene. Individuals with ADO2 have increased numbers of large ineffective osteoclasts in addition to increased serum total tartrate-resistant acid phosphatase (TRACP) activity. METHODS We investi...
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Osteopetrosis is an inherited bone disorder characterized by general skeletal sclerosis. The cortex and spongiosa are increased in thickness and density. and the bone marrow spaces are reduced in volume [1]. Histopathologically, excessive retention of chondroosseous tissue and failure of remodeling of bones are the result of retarded osteocytic osteolysis and osteocytic chondrolysis [2] . Signs...
متن کاملAlbers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
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 channe...
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Osteopetrosis (OP) variably referred to as ‘Marble bone disease’ or ‘Albers Schonberg disease’ was first described by a German radiologist in 1904. It is a group of genetically and clinically heterogeneous disorders characterized by increased skeletal density. Clinical severity varies from asymptomatic adults to a life-threatening condition in infants. Autosomal recessive osteopetrosis has an i...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1964
ISSN: 0007-1161
DOI: 10.1136/bjo.48.4.218