The Greek language is where the word osteopetrosis originated. Osteo and petrosis both refer to bone and stone, respectively. As a result, the illness is frequently referred to as “marble bone sickness.” Dr. Albers-Schonberg, a radiologist from Germany, first described the condition in 1904. The most important radiographic observation is unusually high bone density.
The damaged bones become excessively brittle as a result of the increased density, which is a result of osteoclast dysfunction. The term “osteopetrosis” refers to a set of genetic metabolic bone illnesses that all adversely affect bone growth and remodeling, resulting in generalized osteosclerosis, the possibility of pancytopenia, pathologic fracturing, or even cerebral neuropathies and hepatosplenomegaly in extreme cases. The known illness forms are four.
The malignancy autosomal recessive variant (ARO), which is extremely severe and frequently results in early childhood mortality, is not labeled malignant because it has anything to do with oncology but rather because of how terrible the disorder is. Typically, for the first ten years of life, the intermediary ARO starts to have clinical significance. Even though these affected patients develop increasing cranial nerve compressive neuropathies and pathologic injuries, they typically survive until maturity.
Autosomal dominant osteopetrosis (ADO) has two subtypes, and people with these conditions frequently remain asymptomatic until adulthood. The cranial vault has isolated osteosclerotic thickness in type I, which normally does not carry an increased risk of fracture risk. Pathologic fractures, anemia, or initial arthritis are common adult manifestations in type II patients.
Epidemiology
Fortunately, the disease’s ARO is much less common than its ADO. About 1 in every 250,000 births had the ARO. Notably, the occurrence has been discovered to be much greater in Costa Rica, where it is estimated to occur in about 3.4 out of each 100,000 births. The frequency of the disease’s ADO is roughly 1:20,000.
Anatomy
Pathophysiology
In order for osteoclast-mediated absorption and deposition to coexist in a healthy manner, bone must be in a dynamic equilibrium. Osteopetrosis is characterized by abnormal osteoclast growth and function, which disturbs the normal homeostasis of the bone.
Chloride channels, Proton pumps, as well as CAII protein deficiencies, prevent osteoclasts from successfully resorbing bone. As a result, the fracture-prone, disorganized, and excessively dense bone develops unregulated.
Etiology
The osteoclastic malfunction has been linked to a minimum of Eight gene alterations, according to a genetic study. An autosomal recessive, malignant variant of the illness is linked to six among these eight traits. An osteoclast-rich form of ARO is caused by the deletion of function mutations in AND SNX10, OSTM1, TCIRG1, CLCN7, and PLEKHM1.
This version has a lot of osteoclasts. The poor ruffled boundary development, however, prevents the osteoclasts from the adequately resorbing bone. Osteoclast formation is disturbed and osteoclast poor osteopetrosis results from function loss mutations in TNFRSF11A and TNFSF11.
The Carbonic anhydrase II (CAII) gene, which codes for the CAII protein, has a loss-of-function mutation that causes intermediate ARO. Because of a dominant-negative mutation in chloride channel 7 (CLCN7), CLCN7 becomes dysfunctional, leading to ADO.
Genetics
Prognostic Factors
Without a successful bone marrow transplant, the malignant, ARO frequently results in death during the first few years of life. Bone marrow transplantation may be attempted on many patients with varying degrees of success.
With the ADO, the other disease forms often allow patients to live into adulthood with relatively little impact on life expectancy and general health.
The Greek language is where the word osteopetrosis originated. Osteo and petrosis both refer to bone and stone, respectively. As a result, the illness is frequently referred to as “marble bone sickness.” Dr. Albers-Schonberg, a radiologist from Germany, first described the condition in 1904. The most important radiographic observation is unusually high bone density.
The damaged bones become excessively brittle as a result of the increased density, which is a result of osteoclast dysfunction. The term “osteopetrosis” refers to a set of genetic metabolic bone illnesses that all adversely affect bone growth and remodeling, resulting in generalized osteosclerosis, the possibility of pancytopenia, pathologic fracturing, or even cerebral neuropathies and hepatosplenomegaly in extreme cases. The known illness forms are four.
The malignancy autosomal recessive variant (ARO), which is extremely severe and frequently results in early childhood mortality, is not labeled malignant because it has anything to do with oncology but rather because of how terrible the disorder is. Typically, for the first ten years of life, the intermediary ARO starts to have clinical significance. Even though these affected patients develop increasing cranial nerve compressive neuropathies and pathologic injuries, they typically survive until maturity.
Autosomal dominant osteopetrosis (ADO) has two subtypes, and people with these conditions frequently remain asymptomatic until adulthood. The cranial vault has isolated osteosclerotic thickness in type I, which normally does not carry an increased risk of fracture risk. Pathologic fractures, anemia, or initial arthritis are common adult manifestations in type II patients.
Fortunately, the disease’s ARO is much less common than its ADO. About 1 in every 250,000 births had the ARO. Notably, the occurrence has been discovered to be much greater in Costa Rica, where it is estimated to occur in about 3.4 out of each 100,000 births. The frequency of the disease’s ADO is roughly 1:20,000.
In order for osteoclast-mediated absorption and deposition to coexist in a healthy manner, bone must be in a dynamic equilibrium. Osteopetrosis is characterized by abnormal osteoclast growth and function, which disturbs the normal homeostasis of the bone.
Chloride channels, Proton pumps, as well as CAII protein deficiencies, prevent osteoclasts from successfully resorbing bone. As a result, the fracture-prone, disorganized, and excessively dense bone develops unregulated.
The osteoclastic malfunction has been linked to a minimum of Eight gene alterations, according to a genetic study. An autosomal recessive, malignant variant of the illness is linked to six among these eight traits. An osteoclast-rich form of ARO is caused by the deletion of function mutations in AND SNX10, OSTM1, TCIRG1, CLCN7, and PLEKHM1.
This version has a lot of osteoclasts. The poor ruffled boundary development, however, prevents the osteoclasts from the adequately resorbing bone. Osteoclast formation is disturbed and osteoclast poor osteopetrosis results from function loss mutations in TNFRSF11A and TNFSF11.
The Carbonic anhydrase II (CAII) gene, which codes for the CAII protein, has a loss-of-function mutation that causes intermediate ARO. Because of a dominant-negative mutation in chloride channel 7 (CLCN7), CLCN7 becomes dysfunctional, leading to ADO.
Without a successful bone marrow transplant, the malignant, ARO frequently results in death during the first few years of life. Bone marrow transplantation may be attempted on many patients with varying degrees of success.
With the ADO, the other disease forms often allow patients to live into adulthood with relatively little impact on life expectancy and general health.
The Greek language is where the word osteopetrosis originated. Osteo and petrosis both refer to bone and stone, respectively. As a result, the illness is frequently referred to as “marble bone sickness.” Dr. Albers-Schonberg, a radiologist from Germany, first described the condition in 1904. The most important radiographic observation is unusually high bone density.
The damaged bones become excessively brittle as a result of the increased density, which is a result of osteoclast dysfunction. The term “osteopetrosis” refers to a set of genetic metabolic bone illnesses that all adversely affect bone growth and remodeling, resulting in generalized osteosclerosis, the possibility of pancytopenia, pathologic fracturing, or even cerebral neuropathies and hepatosplenomegaly in extreme cases. The known illness forms are four.
The malignancy autosomal recessive variant (ARO), which is extremely severe and frequently results in early childhood mortality, is not labeled malignant because it has anything to do with oncology but rather because of how terrible the disorder is. Typically, for the first ten years of life, the intermediary ARO starts to have clinical significance. Even though these affected patients develop increasing cranial nerve compressive neuropathies and pathologic injuries, they typically survive until maturity.
Autosomal dominant osteopetrosis (ADO) has two subtypes, and people with these conditions frequently remain asymptomatic until adulthood. The cranial vault has isolated osteosclerotic thickness in type I, which normally does not carry an increased risk of fracture risk. Pathologic fractures, anemia, or initial arthritis are common adult manifestations in type II patients.
Fortunately, the disease’s ARO is much less common than its ADO. About 1 in every 250,000 births had the ARO. Notably, the occurrence has been discovered to be much greater in Costa Rica, where it is estimated to occur in about 3.4 out of each 100,000 births. The frequency of the disease’s ADO is roughly 1:20,000.
In order for osteoclast-mediated absorption and deposition to coexist in a healthy manner, bone must be in a dynamic equilibrium. Osteopetrosis is characterized by abnormal osteoclast growth and function, which disturbs the normal homeostasis of the bone.
Chloride channels, Proton pumps, as well as CAII protein deficiencies, prevent osteoclasts from successfully resorbing bone. As a result, the fracture-prone, disorganized, and excessively dense bone develops unregulated.
The osteoclastic malfunction has been linked to a minimum of Eight gene alterations, according to a genetic study. An autosomal recessive, malignant variant of the illness is linked to six among these eight traits. An osteoclast-rich form of ARO is caused by the deletion of function mutations in AND SNX10, OSTM1, TCIRG1, CLCN7, and PLEKHM1.
This version has a lot of osteoclasts. The poor ruffled boundary development, however, prevents the osteoclasts from the adequately resorbing bone. Osteoclast formation is disturbed and osteoclast poor osteopetrosis results from function loss mutations in TNFRSF11A and TNFSF11.
The Carbonic anhydrase II (CAII) gene, which codes for the CAII protein, has a loss-of-function mutation that causes intermediate ARO. Because of a dominant-negative mutation in chloride channel 7 (CLCN7), CLCN7 becomes dysfunctional, leading to ADO.
Without a successful bone marrow transplant, the malignant, ARO frequently results in death during the first few years of life. Bone marrow transplantation may be attempted on many patients with varying degrees of success.
With the ADO, the other disease forms often allow patients to live into adulthood with relatively little impact on life expectancy and general health.
https://www.ncbi.nlm.nih.gov/books/NBK557529/
Free CME credits
Both our subscription plans include Free CME/CPD AMA PRA Category 1 credits.
Digital Certificate PDF
On course completion, you will receive a full-sized presentation quality digital certificate.
medtigo Simulation
A dynamic medical simulation platform designed to train healthcare professionals and students to effectively run code situations through an immersive hands-on experience in a live, interactive 3D environment.
medtigo Points
medtigo points is our unique point redemption system created to award users for interacting on our site. These points can be redeemed for special discounts on the medtigo marketplace as well as towards the membership cost itself.
Community Forum post/reply = 5 points
*Redemption of points can occur only through the medtigo marketplace, courses, or simulation system. Money will not be credited to your bank account. 10 points = $1.
All Your Certificates in One Place
When you have your licenses, certificates and CMEs in one place, it's easier to track your career growth. You can easily share these with hospitals as well, using your medtigo app.
