Skip to main content

CYSTIC FIBROSIS

INTRODUCTION:

Cystic fibrosis (CF) is the most common lethal genetic disease in Caucasians, affecting 1 in 2500 births. It is caused by mutations of a gene (on chromosome 7) coding for a chloride channel – cystic fibrosis transmembrane conductance regulator (CFTR). The carrier rate of CF mutations is 1 in 25 and inheritance is autosomal recessive.




The most common mutation is ΔF508 but > 1000 mutations have been identified. The genetic defect causes increased sodium and chloride in sweat, and depletion of airway lining fluid, leading to chronic bacterial infection in the airways. The gut epithelium, pancreas, liver and reproductive tract are also affected. 

Neonatal screening for CF is now routine in the UK. The diagnosis is confirmed by genetic testing and sweat electrolyte measurements.


CLINICAL FEATURES:

The lungs are normal at birth, but bronchiectasis develops in childhood. Staph. aureus is the most common childhood organism; however, in adulthood, increasing numbers are colonised with Pseudomonas aeruginosa. Recurrent exacerbations of bronchiectasis cause progressive lung damage, resulting ultimately in death from respiratory failure. Other clinical manifestations of the gene defect include intestinal obstruction, exocrine pancreatic insufficiency with malabsorption, diabetes and hepatic cirrhosis. Men with CF are infertile due to failure of development of the vas deferens.

MANAGEMENT & PROGNOSIS:

Regular chest physiotherapy is recommended. For exacerbations, Staph. aureus infection is often managed with oral antibiotics; IV treatment is usually needed for Pseudomonas spp. Resistant strains of Ps. aeruginosa, Stenotrophomonas maltophilia and Burkholderia cepacia are a major problem. Aspergillus and ‘atypical mycobacteria’ are also frequently found (may be benign ‘colonisers’). Nebulised antibiotic therapy (Colomycin or tobramycin) is used to suppress chronic Pseudomonas infection. Nebulised recombinant human deoxyribonuclease (DNase) liquefies sputum, reduces exacerbations and improves pulmonary function in some patients. Regular macrolides (e.g. azithromycin) reduce exacerbations and improve lung function in patients with Pseudomonas colonisation. 

In advanced disease, home oxygen and NIV may be necessary to treat respiratory failure. Ultimately, lung transplantation can produce dramatic improvements but is limited by donor organ availability.

Treatment of non-respiratory manifestations of CF: Malabsorption is treated with oral pancreatic enzymes and vitamin supplements. Increased calorie requirements of CF patients are met by supplemental feeding, including nasogastric or gastrostomy tube feeding if required. Diabetes eventually appears in ~25% of patients and often requires insulin. Osteoporosis should be sought and treated.

The prognosis of CF has improved greatly in recent decades, mainly because of better nutrition and control of bronchial sepsis. The median survival of patients with CF born in the 21st century is now predicted to be over 40 yrs.


THOSE ABOVE ARE COLLECTED FROM SOME BOOKS AND WEBSITES..

(DAVIDSON’S ESSENTIALS OF MEDICINE)

THANK YOU,

 SRIKUMARAN PHYSIOTHERAPY CLINIC & FITNESS CENTER


Labels:

Comments

Post a Comment

Popular posts from this blog

BRONCHIECTASIS

INTRODUCTION: Bronchiectasis means abnormal dilatation of the bronchi due to chronic airway inflammation and infection. It is usually acquired, but may result from an underlying genetic or congenital defect of airway defences. CAUSES: Congenital • Cystic fibrosis • Primary ciliary dyskinesia • Kartagener’s syndrome (sinusitis and transposition of the viscera) • Primary hypogammaglobulinaemia Acquired • Pneumonia (complicating whooping cough or measles) • Inhaled foreign body • Suppurative pneumonia • Pulmonary TB • Allergic bronchopulmonary aspergillosis complicating asthma • Bronchial tumours CLINICAL FEATURES: ● Chronic cough productive of purulent sputum.  ● Pleuritic pain. ● Haemoptysis.  ● Halitosis. Acute exacerbations may cause fever and increase these symptoms. Examination reveals coarse crackles caused by sputum in bronchiectatic spaces. Diminished breath sounds may indicate lobar collapse. Bronchial breathing due to scarring may be heard in advanced disease. INVESTIG...
Post a Comment
Read more

CARDIAC ARREST AND RESUSCITATION

INTRODUCTION: The leading causes of sudden death before old age, in people over the age of 44, are ventricular fibrillation from asymptomatic ischaemic heart disease or non-traumatic accidents such as drowning and poisoning. In people under the age of 38, the commonest causes are traumatic, due to accident or violence. In such instances death may be prevented if airway obstruction can be reversed, apnoea or hypoventilation avoided, blood loss prevented or corrected and the person not allowed to be pulseless or hypoxic for more than 2 or 3 minutes. If, however, there is circulatory arrest for more than a few minutes, or if blood loss or severe hypoxia remain uncorrected, irreversible brain damage may result. Immediate resuscitation is capable of preventing death and brain damage. The techniques required may be used anywhere, with or without equipment, and by anyone, from the lay public to medical specialists, provided they have been appropriately trained. Resuscitation may be divided in...
Post a Comment
Read more

Acute Torticollis (Twisted Neck)

  Torticollis – another name for having a ‘twisted neck’ or a ‘wry neck’ – often happens suddenly. You go to bed without any symptoms one night and then you simply wake up the following morning with a wry neck. This is known as acute torticollis. It is a very common cause of neck pain and stiffness. However, although it can be very painful when you are affected by it, most people with the condition do not actually need to see their doctor, as simple treatment such as painkillers, physiotherapy can be really effective. symptoms Developing a wry neck (acute torticollis) occurs when the muscles supporting your neck on one side become painful. These symptoms usually come on very quickly, often overnight, so that you wake up with pain and stiffness down one side of your neck. The pain is usually just on one side of your neck and stiffness of the muscles in that area twists the neck to one side. You may find it very difficult when you try to straighten your neck, due to pain. Occasional...
Post a Comment
Read more