Cystic fibrosis

Cystic fibrosis is the most prevalent autosomal recessive disorder that limits general life in Europe, North America and Australia. This disease is caused by a mutation in the gene encoding the chloride transport transmembrane channel called cystic fibrosis transmembrane conductance regulator (CFTR), which regulates anion transport and mucociliary clearance in the respiratory tract . CFTR dysfunction causes mucus retention and chronic infection, followed by local airway inflammation which is harmful to the lungs. There is evidence that immune cells play a role, but CFTR dysfunction mainly affects epithelial cells. Cystic fibrosis affects several bodily systems and morbidity and mortality are mainly caused by bronchiectasis, small airway obstruction, and progressive respiratory disturbances. Significant complications caused by epithelial cell dysfunction occur in pancreas (absorbable), liver (biliary cirrhosis), sweat gland (heat shock), and vas deferens (infertility). By improving pulmonary mucus clearance, development and delivery of drugs to improve the treatment of infectious diseases thereafter, and a combination with a collective team to correct pancreatic dysfunction and malnutrition, living of patients with cystic disease The quality and clinical outcome remarkably improved Innovation and conversion therapy for the basic defect of 40 years old cystic fibrosis has recently been developed. And it is effective to improve pulmonary function and reduce lung deterioration. Further small molecule therapies and gene therapies have been developed to restore CFTR function; these therapies are expected to ameliorate the disease and improve the lives of patients with cystic fibrosis.

Cystic fibrosis affects the lungs and pancreas. It is the result of a cystic fibrosis transmembrane conductance regulator (CFTR) mutation that decreases fat absorption vitamin (ADEK) + protein / fat absorption. To compensate for this disease, you need high fat calorie diet + insulin

Cystic fibrosis is an autosomal recessive disorder - that is, two defective genes (one for each parent) are needed to develop the disease. The gene thought to cause cystic fibrosis is called cystic fibrosis transmembrane conductance regulator or CFTR. This gene is on chromosome 7. The severity and extent of this disease vary greatly among patients with cystic fibrosis. Typically, this condition results in chloride transport defects through epithelial cells and an increase in the viscosity of bodily secretions, particularly from the respiratory tract (ie, lungs, throat) and pancreas. As a result, the patient is prone to pancreatic dysfunction and recurrent thoracic infection

Marten deVlieger was initially diagnosed with cystic fibrosis. This is a degenerative incurable disease affecting the whole body, especially the lungs. "Life with cystic fibrosis is a continuous task." Most of us are said to be unable to live at 2, 10, 21 from birth. It is rare that people live in today's average CF life, he said he believes that 'this might be me'. But Marten dreams of independence. Since he wanted to take a helicopter, he used it as a teenager to locate local waste dumps, find metal scraps and parts and reflect the traditional mucus relaxation method of CF patients. . His first iteration was too much trouble to hurt him. However, ChestMaster 5000 was born.

Cystic fibrosis (CF) fell to us in 2014. In fact, CF attacks us every day for 18 years, 9 months and a strange day. Every day, CF robs my son's oxygen. However, cystic fibrosis is not our only fight against hypoxia (and not yet). Cystic fibrosis is merely a clear name and recognized, and teams from around the world are fighting for treatment everyday. Two years ago, I wrote that life without diagnosis and diagnosis is the same and patients and families are full of hope and fear everyday. I am wrong. It is much better to make a diagnosis. Diagnosis means understanding, acquiring education and skills, and taking decisive action with small things and great things. This means not wasting valuable time to figure out. Diagnosis means to clearly show how to ride water after thorough practice and relaxation, meaning to make people professional over time.