What is the pathophysiology of osteogenesis imperfecta?

Pathophysiology and therapeutic options in osteogenesis imperfecta: an update. Abstract: Osteogenesis imperfecta (OI) is a rare, heritable systemic disorder of bone and connective tissue, which in almost 90% of cases is due to mutations affecting the normal synthesis of type I collagen.

What organs are affected by osteogenesis imperfecta?

In more severe forms of osteogenesis imperfecta, there may be bone deformities, poor lung development and lung problems, a barrel-shaped chest, poor muscle development in the arms and legs. Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen.

What happens in osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems.

How does liver disease affect bones?

Liver diseases are associated with bone loss that is due to decreased bone formation or increased bone resorption depending on the etiology of liver disease. This is associated with increased fracture risk. Factors related to the role of liver in bone health are also involved in mediating the bone loss.

What is the caused of osteogenesis imperfecta and how is the bone affected?

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. It is also called brittle bone disease. It is characterized by an increased susceptibility to bone fractures and decreased bone density.

What tissue is affected by osteogenesis imperfecta?

Osteogenesis imperfecta (OI) is a rare disease affecting the connective tissue and is characterized by extremely fragile bones that break or fracture easily (brittle bones). The abnormal growth of bones is often referred to as a bone dysplasia.

What cells are affected by osteogenesis imperfecta?

Osteogenesis imperfecta (OI), or brittle-bone disease, is a heterogeneous disorder that affects skeletal tissues in which Type I collagen is the major protein component. The disease results from mutations that affect the genes that encode the polypeptide chains of Type I collagen [1,2].

Why does liver disease cause osteoporosis?

Patients with cholestatic liver disease are particularly susceptible to osteoporosis due to the interference of cholestasis with vitamin D metabolism.

How does cirrhosis affect bones?

Osteoporosis is the most common form of bone disease in individuals with liver cirrhosis [5,14]. The risk of osteoporosis and associated fractures has been shown to be increased in patients with cirrhosis (irrespective of the etiology), viral cirrhosis, cholestatic liver diseases, and primary biliary cirrhosis [15].

What is the pathogenesis of osteopetrosis?

Pathophysiology. The primary underlying mechanism involved in all forms of osteopetrosis is the failure of normal osteoclastic bone resorption. This results in dense, deformed sclerotic bones1 that show typical and diagnostic patterns on radiograph (Figure 1).