Question

• Discuss the pathophysiology, clinical manifestations, evaluation, and treatment of cystic fibrosis. Discuss the potential impact of gene therapy on CF and the ethical dimensions in treating this life-limiting disease.

Answer 1

Cystic fibrosis is a genetic disorder that affects the lungs mostly but also affects kidneys, liver, pancrease and intestine. The pathophisiology of cystic fibrosis is explained as-

The exact pathophisiology of this disease is debated on but most widely accepted explanation is the mutation of CFTP protein that cause mutation in a specific gene and distorts the structure and formation of the protein. The protein created by this mutatio is attached to outer surface of sweat glands in liver, lungs and kidney cells. These protein attaches the cell membrane to fluid space creating a channel and this channel restrict resorbtion of the ions and this causes blockage of the spaces that creates sodium and chloride dysfunction and cellular dysfunction.

Clinical manifestation- salty tasting skin, poor growth, poor weight, tick mucus accumulation on skin, retarded growth, chest infection breathlessness etc.

Evaluation- the evaluation of cystic fibrosis can be done by various methods including different laboratory tests some of them as genetic testing, sweat testing and new born screening.

Treatment- there is no proper cure to cystic fibrosis but the management of the symptoms is provided as pulmonary rehabilitation, treatment for reproductive organ issues, airway breathing management etc.

( please create a new question fro remaining part)