Human Disease Lab Series The Skeletal System The Symptoms This bone disease is a

Question

Human Disease Lab Series The Skeletal System The Symptoms This bone disease is a rare disorder formally associated with a fragile skeleton, as well as varying systemic complications. It is a lifelong disorder triggered by a gene mutation and often associated with a blue sclera and varying degrees of asthma. Diagnosis How would you diagnose this bone disease?What clinical diagnostic aids would you utilize in this process and why? Misdiagnosis Often, the initial assumptions associated with this rare disease process will lead to a misdiagnosis. Why would initial thoughts of vitamin D and child abuse potentially come into play?Name Six Types of charateristic and Define the major characteristics associated with the six different types of this rare bone disease. . this rare bone disease can affect multiple human systems. List and describe a systemic implication for each of the systems .

Systems Affected

Skeletal

Respiratory

Cardiovascular

Integumentary

Special Senses

Organ Fragility

What varying specialties might be involved in this differential diagnostic process and why? Define your reasoning.

Gene Mutation Mechanism

This rare bone disease is a genetic disorder. Describe this gene mutation and the two ways in which it affects a very particular type of connective tissue throughout the body.

Treatment

What treatment (if any) are utilized for this rare disease process? Does the different types of this disease require varying treatment plans?

Explanation / Answer

This case might be of "osteogenic imperfecta" which is also known as brittle bone disease. Identifyning features are brittle bone, blue sclera, breathing problem.

Diagnosis includes plane xray, symptoms

Confirmation can be done by DNA or collagen testing.

It is mainly involves brittle bone problem therefore vitamin D conditions can be rule out.deficiency can make soft thin brittle bone.like in rickets and osteoporosis. But sclera can not be distinguishing feature present in vitamin D deficiency. And child abuse may come into mind because of multiple fracture.but other features may not be seen.

Osteogenesis imperfecta is genetic disorder which is due to mutation of TMEM38B gene on chromosome 9.

It is type 1 collagen disorder.

Scoliosis, short strature, basilar skull deformities seen

Hearing loss may observed.

There is no permanent cure for disease. Healthy lifestyle, excercise can help patient. Pain medication physical therapy, use of assistive tool such as braces, wheelchairs.

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