Cystic fibrosis

The best diagnostic test for cystic fibrosis is measurement of electrolyte level in sweat 6 patients (> 60 mmol / l, diagnosis; 40-60 mmol / l, moderate etc.) with high concentration of sodium and chloride Degree (but infant diagnosis))); <40 mmol / l, normal). However, cases without suspected cystic fibrosis with normal sweat electrolyte are described. Newer technologies reduce the amount of sweat needed (Figure 3 3). Testing should be done by trained and experienced staff. Therefore, primary care professionals play an extremely important role in identifying patients who need to investigate, but diagnosis is usually done at secondary centers and tertiary centers. Still in rare cases where there is a doubt about diagnosis, other diagnostic tests can be carried out - for example in the UK specialty center you can measure the nasal potential difference to evaluate salt transfer 7.

In the UK there are currently plans to screen all neonatal cystic fibrosis using the Guthrie spot test 8 The first screen was for high concentrations of immunoreactive trypsinogen. If necessary, the general CFTR gene mutation in the positive sample is examined, then the immunoreactive trypsinogen is screened a second time. Screening positive babies are introduced for sweat examinations

Although screening programs have been implemented in some parts of the world for many years, screening programs may not be appropriate in countries where the incidence of CFTR mutations is low. Advantages of early diagnosis include nutritional benefits, early access to treatment by experts, reduced time to diagnose uncertainty, and the ability to perform parental prenatal diagnosis.

However, the screening process has several downsides. This plan identifies healthy heterozygous carriers as potential patients. This may cause psychological effects and stress to the family until diagnosis is excluded. Furthermore, even patients with typical cystic fibrosis may be overlooked.

Once diagnosed, other families may be screened. All brothers and sisters need to be screened for disease. Asymptomatic adult relatives may want to screen for the carrier's condition so that they can choose with adequate information on prenatal screening. In our experience, it is easiest to screen and consult other families through primary care, but in order to ensure rapid and cost-effective inspection, adjustment between genetic laboratories is necessary.

Cystic fibrosis can not be prevented. However, genetic testing should be done on a couple with cystic fibrosis, or on relatives with disease. Genetic testing can determine the risk of childhood cystic fibrosis by examining each parent's blood or saliva sample. You can test whether you are pregnant or not worried about your baby's risk.

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.