CYSTIC FIBROSIS

CYSTIC FIBROSIS

Cystic fibrosis is a genetic or inherited disorder that causes severe damage to the lungs,digestive system and other organs in the body. 

CAUSE OF CYSTIC FIBROSIS

Cystic fibrosis is caused by a change or mutation in a gene called  Cystic Fibrosis Transmembrane Conductance Regulator.

      

Risk Factor

If both parents are carriers of cystic fibrosis transmembrane Conductance Regulator gene mutation

          

NOTE

CFTR is a protein gene that functions as a channel across the membrane of cells that  produce mucus,sweat, saliva, tears,and other  digestive enzymes.  These secreted fluids are normally thin and slippery and acts as a lubricants. The protein(CFTR) helps in moving water and salt in and out of the cells.

 

PATHOPHYSIOLOGY  OF CYSTIC FIBROSIS

Cystic fibrosis is an  autosomal dominant disease that is caused by a mutation in a gene called CFTR which is Being inherited from parents who have a defective CFTR gene.

This gene produces a defective protein that causes a blockage in the transportation of those fluids, thus leading to an accumulation of thick and sticky mucus outside the cells. 

These accumulated mucus interferes with normal functioning of the organs in different ways:

 

In the lungs, the accumulation of mucus can block airways, causing inflammation and an increasing the risk of infection, pulmonary hypertension,shortness of breath and tissue damage.

In the digestive tract, the accumulation can block the secretion of digestive enzymes from the pancreas. This can interfere with the absorption of nutrients in the intestines, leading to malnutrition and poor growth. Chronic pancreatitis can also occur.

In the liver, the blockage of bile ducts can interfere with the liver’s ability to clear toxins from the blood, leading to scarring, gallstones, and cirrhosis.

In the endocrine system, the blockage of insulin-producing cells on the pancreas, known as islets of Langerhans, can lead to a type of diabetes that has characteristics of both type 1 and type 2 diabetes. This is called cystic fibrosis-related diabetes (CFRD)

SIGNS AND SYMPTOMS OF CYSTIC FIBROSIS

* steatorrhea 

* dyspnea

* weight loss

* cyanosis

* dehydration 

* hyponatremia 

* obstructive jaundice 

* pulmonary infection 

* chronic cough 

* sterility in males

 

INVESTIGATIONS/ DIAGNOSTIC TESTS

* Genetic testing to detect mutated CFTR genes

* Prenatal diagnostic test to diagnose cystic fibrosis in an unborn baby 

* Sweat test for high sweat chloride 

* Family history 

* Pulmonary function test

* Chest x-ray to view bronchial thickening 

 

MEDICAL MANAGEMENT

* Postural drainage 

* Ibuprofen for swelling 

* Antibiotics  to halt invading pathogens 

* Bronchopulmonary lavage

* Expectorant  and Mucolytic angent

   

 

NURSING MANAGEMENT

- Admit patient

- Observe vital signs and record 

- ensure clear airway  using Postural drainage, sunction when necessary, teach breathing exercise, and administer oxygen as prescribed.

- Attain to the psychological needs of the patient and relations 

- Give Good nutritional food high in calories and protein, low in fat, Give vitamins 

- Physical needs like bath, oral care to prevent infection,  change patient's position to avoid  sore.

-Drugs: adminter drugs as prescribed by the physician 

      

NURSING DIAGNOSES

* Ineffective airway clearance related to thick pulmonary secretions  evidence by dyspnea

* imbalance nutrition: less than body requirement related to impaired digestion evidence by weight loss

* Anxiety related to unknown outcome of the disease evidence by patient Being apprehensive. 

COMPLICATIONS OF CYSTIC FIBROSIS 

* Pancreatitis 

* Atelectasis 

* Bronchiectasis 

* liver cirrhosis 

* Obstructive jaundice