Making a career in medicine is possibly the most daunting process a nursing/medical professional will ever go through. The challenge begins right from the moment they enrol on the nursing/medical school. They're required to know about thousands of diseases, and brittle bone disease is one of them.
So, even if you have a slight bit of doubt about this condition, you can read through this post for some perspective. Let’s delve into the topic further.
Brittle bone disease is a condition that makes bones fragile which may break easily. It’s a genetic disorder and typically develops in children who have a family history of the disease.
The disease is often identified as osteogenesis imperfecta (OI), which means “imperfectly formed bone.”
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Osteogenesis imperfecta occurs due to a defect in the gene that produces the protein known as collagen. Collagen is a pivotal building block of bones.
People with this disorder are generally born with it. They either don't have adequate collagen in their bones or have collagen that doesn't function as well as it should. This turns the bones weaker and more brittle than the normal bone structure. It can also result in bone deformities. (Deformed bones don’t have normal shapes.)
This defect in the gene can be inherited from a parent. Children with the brittle bone disease often have a parent who has the condition. Sometimes, the flaw in the gene occurs spontaneously at the time of conception.
Your doctor can diagnose brittle bone disease by taking X-rays. X-rays let the doctor see current and past broken bones. They also make it convenient to view flaws in the bones. Lab tests may be conducted to evaluate the structure of the collagen. In some instances, the doctors may recommend getting a skin punch biopsy done. During this biopsy, the doctor will take a sharp, hollow tube to take a small sample of your tissue.
Genetic testing can be carried out to trace the source of any defective genes.
They might also order tests like blood or urine tests to make sure that other conditions, like rickets, aren't the cause of the symptoms. In severe cases, prenatal testing (like an ultrasound) can determine bone and fractures deformities before a baby is born.
The writers will elaborate on the process of diagnosis of this disease when working on your assignment. They will mention all the proper ways to the condition can be diagnosed.
There's no known cure for osteogenesis imperfect (OI). The treatment relies on the symptoms of the children. The treatment may involve physical therapy, occupational therapy, medicine, mobility aids, and surgery. The objective is to prevent fractures, treat them appropriately when they do happen, preserve mobility and independence, and strengthen muscles and bones.
The treatment process may involve an orthopedist, a primary care doctor, rehabilitation specialists, an endocrinologist, a geneticist, and a neurologist.
Physical therapy (PT) can be beneficial for many children suffering from OI. It can develop muscle strength, which assists in promoting aerobic fitness, and improves breathing. Children who need this treatment can learn how to use mobility aids. In younger children, PT can promote motor skill development.
Preventing bone fractures is crucial for patients with OI. The doctors can reduce their risk of broken bones by:
In case there are fractures, it's vital to treat them right away with splints, casts, and braces. Orthopaedists might suggest using lightweight versions of these devices that enable some movement during healing.
Doctors might suggest bone-strengthening medicines to maximise bone density and further decrease the chances of fractures. Some people will recommend treatment to promote bone strength for the rest of patients’ lives.
Sometimes, surgery is required to repair a broken bone or fix a defect. Surgeons also might surgically insert rods into long bones (like the tibia, femur, and humerus) to prevent decay. Surgery can also correct dental problems from brittle teeth and help with hearing impairment as well.
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The severity of the brittle bone disease can differ. Some people won't know they have this condition until they fall and break a bone. For them, the only symptom of this condition could be an occasional broken bone. Other people can have many broken bones without any obvious cause.
Signs of OI include:
Babies with type II brittle bone disease are essentially born with many fractures and have severe breathing problems. As a result, most of them are unlikely to survive. The babies born with type II OI may have a narrowed chest, broken ribs, or underdeveloped lungs.
Complete knowledge of this disease will help you deal with the patients properly. In this case, the eminent nursing assignment experts from MyAssignmenthelp.com provide excellent assistance that you can apply in your career ahead.
Osteoporosis results in weak and brittle bones — so brittle that a fall or even mild actions like coughing can also trigger a fracture. Osteoporosis-related fractures most commonly around the spine, hip, or wrist.
The difference between osteoporosis and osteogenesis imperfecta is that the former is common among elderly women, and the latter is prevalent among children.
Endnote,
If you decide to pursue medicine or nursing, you need to be perfectly acquainted with diverse types of health condition, and brittle bone disease is one of them. This brief guide will help you develop more clarity on this condition.
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