Albers-Schönberg Disease

thumb|Rentgenový obraz osteopetrózy. Albers-Schönberg disease ( marbling of the bones, osteosclerosis, osteopetrosis  ) is a rare hereditary disease with a malfunction of osteoclasts (disorder of bone resorption). Disturbed balance of activity of osteoblasts and osteoclasts → bone becomes extremely compact ( bone sclerosis ). New bone formation normal → brittle and brittle bone, strengthening of metaphyses and diaphysis. The primary medullary cavity is filled with homogeneous irregular bone substance → extramedullary hematopoiesis.


 * 3 forms:
 * Classic congenital form (m. Albers-Schönberg) – malignant osteopetrosis ( AR hereditary ).
 * Osteopetrosis tarda – benign ( AD hereditary ).
 * Osteopetrosis due to renal tubular acidosis ( Hereditary AR ).

Clinical picture

 * different course and prognosis – mild forms to severe or fatal forms (e.g. early infantile form ending fatally before the age of 10),
 * disorders of hematopoiesis → anemia, immunodeficiency ,
 * macrocephaly, tooth defects, osteosclerosis, exophthalmos (by compression of nerves in bone canals),
 * pathological fractures.

X-ray image

 * the basic image is an increased density of bone tissue (corticalis and spongiosis cannot be distinguished, filling of the marrow cavity of the bones),
 * striated osteosclerotic zones of vertebral bodies and covering plates,
 * thickening of the cortex of the long bones and the peripheral parts of the pelvis ,
 * radial thickening of the bony beam in the arm and leg skeleton,
 * periosteal apposition to spicules, often in traction zones of the skeleton (club-shaped metaphysis).

Laboratory finding

 * increased acid phosphatase (possibly also alkaline phosphatase) in the serum,
 * calcium and phosphate levels normal,
 * in the renal form, manifestations of acidosis.

Prenatal diagnosis

 * sonographically increased bone density,
 * radiological certificate from the 25th week of pregnancy.

Therapy

 * causal is not,
 * non-orthopedic treatment – ​​treatment of anemia or pancytopenia ( bone marrow transplantation, corticoids , IFN-α ),
 * orthopedic treatment – ​​pathological fractures (mostly transverse) , bone healing is prolonged, a longer period of immobilization of fractures is necessary.

Differential diagnosis

 * other sclerosing bone diseases ( pycnodysostosis, progressive diaphyseal dysplasia , metaphyseal dysplasia , metal poisoning , syphilis , myelofibrosis ) – they do not have severe anemia.

Related articles

 * Neurofibromatosis (m. von Recklinghausen)
 * Osteogenesis imperfecta (osteopsatyrhosis, fragilitas ossium)
 * Osteopoikilosis (osteopoicilia)