How can you diagnose yourself with NPD
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Cystic fibrosis at the age of 30
- Dear expert advice,
i'm 30 years old. As a child, I constantly suffered from respiratory infections, which often had to be treated with antibiotics. According to what my mother said, I was tested three times for cystic fibrosis. This was "borderline" twice. Unfortunately, I cannot provide values at this point.
Even today I suffer from respiratory infections very often. A few months ago I had severe pneumonia (for the first time). I'm 1.67 m, 52 kg, slim, but eat a lot. I eat healthily, do sports every now and then, and have two children.
Could I have cystic fibrosis even though I wasn't diagnosed with it in my childhood? And if so, how likely is that.
Thank you very much for your answer.
- Dear inquirer,
Do you want to know if you have cystic fibrosis (CF)? How likely are you to have cystic fibrosis? How could this disease possibly be diagnosed?
Symptoms that you describe about your illness could occur with many lung diseases or are only an expression of a more frequent susceptibility to infections that did not necessarily have to be caused by another underlying illness. Based on the information we have and all the more on the Internet, we cannot make a diagnosis or give any probabilities for the presence of CF in you.
However, if you wanted to investigate cystic fibrosis, the first step is to carry out (if necessary, repeat if you do not know the previous findings) a sweat test in a certified CF center. If cystic fibrosis is suspected, the sweat test is the first diagnostic measure. After the sweat test examination, a decision is always made about the need to carry out further examinations: a genetic examination, a nasal potential difference measurement (nPD) and / or an intestinal short-circuit current measurement (ICM, in using chamber).
In connection with your question, I can give you a reference to the guideline for diagnosing cystic fibrosis in order to better understand the diagnostic procedure. This is an S2 consensus guideline "Diagnosis of cystic fibrosis" (AWMF 026-023) under the leadership of the Society for Pediatric Pneumology as of 06/2013. On page 20 of the guideline you will find an algorithm for dealing with a clinical suspicion of cystic fibrosis.
In the comment on the algorithm it is written:
“If there is clinical suspicion of cystic fibrosis, the sweat test comes first in the diagnostic algorithm. If sweat chloride ≥ 30 mmol / l or sweat conductivity ≥ 50 mmol / l or a sweat test that cannot be carried out successfully or - if available - positive newborn screening, further diagnostics should be carried out by a cystic fibrosis outpatient clinic or a cystic fibrosis center. If the sweat chloride value is between 30-59 mmol, a CFTR genetics, an NPD and / or an ICM are required. The examination for the most common CFTR mutations that cause cystic fibrosis should follow as the next examination because of the good availability and rapid feedback. In exceptional cases, a complete examination of the CFTR gene can also be useful without prior examination of the most common mutations, if otherwise a very low detection rate would be expected due to the ethnic origin of the person to be examined. If the diagnosis is not confirmed, the next steps are the complete CFTR analysis and the electrophysiological examinations NPD and / or ICM. The order of the examinations depends on the availability of the method. A complete CFTR examination should also be carried out in patients with normal electrophysiology, since in individual cases patients with two disease-causing mutations have been described despite normal electrophysiology. In return, patients whose complete CFTR examination did not reveal two disease-causing mutations should undergo an electrophysiological examination. For the algorithm for CFTR-associated diseases, we refer to the differentiated algorithms in the European consensus document "
I hope that I have helped you a little with what I said and will remain
With best regards
Dr. med. Christina Smaczny
- The answer was created by: Dr. med. Christina Smaczny
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