marble bone disease

(redirected from Malignant Osteopetrosis)
Also found in: Encyclopedia.

os·te·o·pe·tro·sis

(os'tē-ō-pe-trō'sis), [MIM*166600]
Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy, to bone fragility, and to progressive deafness and blindness; autosomal dominant inheritance. There are also autosomal recessive forms, which may be mild [MIM*259710], severe [MIM*259700], or lethal [MIM*259720], and sometimes involve a renal tubular defect [MIM*259730]. A milder, autosomal dominant form has onset in childhood and no neurologic sequelae.
[osteo- + G. petra, stone, + -osis, condition]

marble bone disease

(mär′bəl)
n.
See osteopetrosis.
An autosomal recessive form [MIM259700] of early onset osteopetrosis with failure to thrive, bone fragility, multiple fractures, osteomyelitis and other infections, proptosis, blindness, deafness and hydrocephalus due to bony overgrowth of cranial foramina; replacement of bone marrow evokes extramedullary haematopoiesis in the liver and spleen, causing hepatosplenomegaly
Autosomal dominant form is MIM 166600
Lab Increased acid and alkaline phosphatases, decreased Ca2+, pancytopenia, defective T cell functions

marble bone disease

Albers-Schönberg disease, malignant osteopetrosis An AR form of early onset osteopetrosis with FTT, bone fragility, multiple Fx, osteomyelitis and other infections, proptosis, blindness, deafness and hydrocephalus due to bony overgrowth of cranial foramina; replacement of BM evokes extramedullary hematopoiesis in liver and spleen, hepatosplenomegaly Lab ↑ acid and alk phosphatases, ↓ Ca2+, pancytopenia, defective T cell functions. See Osteopetrosis.

disease

pathogenic entity characterized by an identifiable aetiological agent, group of signs and symptoms and/or consistent anatomical alterations; see syndrome
Albers-SchÖnberg disease; osteopetrosis; marble bone disease rare autosomal-recessive condition presenting in infancy and characterized by increased bone density, cartilage calcification, obliteration of marrow spaces, anaemia, splenomegaly, progressive deafness and blindness

marble bone disease

References in periodicals archive ?
The US FDA approved its use in children and adults with chronic granulomatous disease and severe, malignant osteopetrosis.
Malignant osteopetrosis or autosomal recessive osteopetrosis (ARO) is characterized by severe osteosclerosis, pathologic fractures, hepatosplenomegaly, and pancytopenia, due to an osteoclast dysfunction that results in inadequate bone resorption.
Gamma Immunex (recombinant interferon beta 1) is an effective treatment for patients suffering from infectious diseases such as chronic granulomatous and malignant osteopetrosis.
InterMune's revenues are comprised of revenues from our HCV collaboration with Roche and sales of Actimmune(R), which is approved for two indications, chronic granulomatous disease (CGD) and severe, malignant osteopetrosis.
IFN-gamma is currently marketed for the treatment of chronic granulomatous disease and malignant osteopetrosis, and is in clinical trials for the treatment of idiopathic pulmonary fibrosis, certain forms of cancer and tuberculosis.
Interferon beta-1a (Avonex) and interferon beta-1b (Betaseron) are approved for multiple sclerosis; interferon gamma-1b (Actimmune) reduces the frequency and severity of infections associated with chronic granulomatous disease and delays progression of malignant osteopetrosis.
Actimmune is currently marketed in the United States by InterMune for the treatment of two rare congenital diseases, chronic granulomatous disease and severe, malignant osteopetrosis.
Boehringer Ingelheim and InterMune plan to immediately seek expedited EU approvals for Imukin(R) for the treatment of severe, malignant osteopetrosis, an indication for which ACTIMMUNE(R) is already approved in the United States.
InterMune markets its lead product, Actimmune(R), for the treatment of chronic granulomatous disease (CGD) and severe, malignant osteopetrosis.
Infantile malignant osteopetrosis (arOP; ARO; OMIM 259700) is an autosomal recessive disease manifesting with anaemia, thrombocytopenia, hepatosplenomegaly, visual impairment due to optic atrophy and deafness.
Porter continued, "We remain very comfortable with the role of Actimmune(R) monotherapy in our approved indications of chronic granulomatous disease and severe, malignant osteopetrosis, and we continue to be very enthusiastic about our ongoing clinical development program evaluating Actimmune(R) alone for the treatment of idiopathic pulmonary fibrosis (IPF).
ACTIMMUNE(R) is currently marketed in the United States for CGD and severe, malignant osteopetrosis.

Full browser ?