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Question
Hello! My name is Golita Nicoleta and I live in Galati. My daughter is 15 month old and after chronic diarrhea she took a sweat test and the value of the test was 48 mmol/l. After 2 weeks we went to another center where we repeated this test and the result was 64 mmol/l. Because she was symptomatic (stool after every meal, repeated colds, salted skin) she was diagnosed with CF and she received medication: Kreon 2cps/day (morning and evening); do these enzymes must be administrated at every meal? Pulmozyme – in the morning; Ursofalk- half cps/day (TGO-26, TGP-36). Do all patients with CF receive Pulmozyme or only the ones with pulmonary affection? I mention that my daughter never did a pulmonary X-ray.
Answer
Dear Mrs. N.,
Sweat test is the gold standard for the diagnosis of CF. It takes 2 positive tests. In here, it is very important that the test is performed correctly in a center with experience in CF testing. Measurement of the sweat chloride concentration by pilocarpine ionotophoresis is the only valid test on which a diagnosis of CF should be based. So one has to make sure, that the values you report in this study are chloride values measured this way. The first value of 48 mmol/l is then in the borderline area (under 40 mmol/l is a normal result), the second value of 64 mmol/l is just in the pathologic area (above 60 mmol/l). So in case the sweat test results are not conclusive (assumed the test has been done correctly at an experienced center, probably another test should be performed), further diagnostics measures have to be performed, such as pancreatic function tests (e.g. measurement of the pancreatic elastase in the stool or fat excretion in the stool), clinical assessment, x-ray, respiratory tract culture for CF-associated pathogens or genetic testing for CFTR mutations.
Even if the diagnosis cannot be made 100% sure, but there is the clinical suspicion of CF (fatty stools, failure to thrive, pulmonary symptoms as cough and infections), it is most important to monitor the clinical course of the child and if necessary to initiate a therapy. At the initial assessment a chest x-ray makes sense as well as sputum cultures / throat swab as your daughter shows respiratory symptoms according to your information. The chest x-ray could also help to clarify the diagnostic situation.
Concerning the therapy, supplementation of pancreatic enzymes (Kreon®) is essential. The supplementation has to be at all meals the child eats (not only in the morning and evening); the dosage has to be adjusted to the fat content of the meal (e.g. children under 1 year need 300-600 IU lipase per gram fat, older children 2000-3000 IU lipase per gram fat), the overall need is around 10.000 IU lipase per kilogram body weight per day. Optimally, the enzymes are given at the beginning and during the meal, but should not be mixed with the entire food.
The existing guidelines recommend Pulmozyme® (DNAse, mucolytic agent) for patients with CF, 6 years of age or older with mild, moderate and severe lung disease. Pulmozyme® is not licensed for children under the age of 5. Therefore it is often not paid by the insurance. However, studies reveal that it is safe also in children under 5 years of age, so in some centers it is given in younger children if symptoms are relieved in the individual case. In general, it is given when there is a pulmonary involvement. An alternative, which is much cheaper is the inhalation of hypertonic saline (NaCl 5-7%) as a mucolytic agent. International guidelines recommend its use for CF patients over 6 years of age. For younger children, there is limited safety data available, so it isn’t used routinely in this age group. However, some centers (in Germany, for example) use it with good experience even under the age of one year increasing the concentration slowly from 0.9% to 6% NaCl.
From your information it is not clear why your daughter receives Ursofalk®, as the values of the liver enzymes appear to be normal and you did not report a pathologic ultrasound of the liver. In general, the indication for Ursofalk® is an involvement of the liver/ biochemical liver disease.
In summary, it seems to be essential to get in contact with your doctor in charge to talk with him about all aspects which are at the moment not clear for you. In principle we suggest a reassessment of your child situation.
Sincerely yours,
Prof.Dr.Liviu Pop and Dr. Daniela d’Alquen
07.06.2011