CYSTIC FIBROSIS

Cystic fibrosis and its emerging treatments in pathology

Table of Contents

Introduction1

Facts and Figures1

Signs and Symptoms/Clinical Presentation2

Risk Factors2

Test & Diagnosis2

Patient History2

Physical diagnosis for peculiar appendage3

Laboratory Tests That May Be Ordered3

Emerging and Current Treatment used for Cystic Fibrosis (CF)4

Anti-Infective Treatments5

Anti-Pseudomonal Vaccines5

Inhaled Antibacterial5

Oral Macrolides6

Anti-Inflammatory Agents6

Mucolytics7

Improving Airway Hydration7

Osmotic Agents7

Ion Channel Modulating Agents8

Gene Therapy8

Exocrine Pancreatic Insufficiency8

Conclusion9

References10

Cystic fibrosis and its emerging treatments in pathology

Introduction

Cystic fibrosis (CF) is a terminal autosomal, multi-system recessive disorder describable by exocrine glands malfunctioning. Cystic fibrosis is a consequence change of “chromosome 7” in the “Cystic fibrosis trans-membrane regulator” (CFTR), which orders the surge of chloride, sodium, and bicarbonate ions crossways the epithelium.

This alteration results in the abnormal discharge of thick mucus that blocks glands and ducts, injuring tissues and fatally affecting the gastrointestinal, pulmonary, endocrine/metabolic systems. Identification of Cystic fibrosis (CF) entails affirmative calculations of pilocarpine iontophoresis (a sweat test) with the existence of either less than equal to 1 phenotypic attribute steady with CF. CF is very different from pneumonia, celiac disease, bronchiectasis, immunodeficiency states and asthma. Respiratory malfunctioning is the main reason for death of CF patient, though there is various indication and, evolution of CF. Treatment of CF is supportive enough for a patient to survive (e.g., good nutrition, physical treatment and pharmacotherapy), but lung, liver or pancreas transplantation had been done in a number of cases of brutal Cystic fibrosis (CF).

Facts and Figures

In United States, almost 1 in 3,000 Americans are affected with Cystic fibrosis (CF) (Mogayzel. 2010). It has been regarded as the most lethal genetic disease in US. According to research figures, 1 in 15,000 Blacks and 1 in 35,000 Asian Americans are suffering from Cystic fibrosis (CF). Estimated figures of 30,000 persons in the U.S are living with Cystic fibrosis, and approximately 900 fresh Cystic fibrosis (CF) subjects arise every year. The survival rate in males is 37.4 years. Male survival rate is quite longer than females. The patients suffering from Cystic fibrosis (CF) beyond the age of 25 years, 8.12% of them develop CF- allied diabetes mellitus whereas, main causes of death from CF is a lung infection (Borowitz. 2009).

Signs and Symptoms/Clinical Presentation

Signs and symptoms of CF vary with the age factor. In new born babies meconium ileus is highly visible; whereas in children and adults, digital clubbing; decreased weight gain/growth; increased anterior/posterior chest diameter; bloodstained sputum; foul-smelling; abdominal distention; dry or productive cough; recurrent pneumonia and bronchitis; fatty stools; wheezing and constipation.

Risk Factors

Family history is the main risk factor for maturity of Cystic fibrosis (CF). There are high chances that if both parents carrying Cystic fibrosis then a child has 25% chances of developing Cystic fibrosis and 50% chances of becoming a carrier.

Test & Diagnosis

Patient History

General recording of family history is very important for the assessment and treatment of Cystic fibrosis. Since it is genetically transferable, hence recoding patients and its family history are very important.

Physical diagnosis for peculiar appendage

Cystic fibrosis affects important parts of body with different symptoms in each.

Gastrointestinal: malabsorption, gastroesophageal reflux, enlarged liver/spleen, biliary cirrhosis, bowel obstruction, gallstones, rectal prolapse, ...