Need for help(assistant) for a diagnosis on a 15-year-old child

Question

Question hello, me you already have to put 2 questions for my 14-year-old son but not received of msg from you!! In other has this day the paediatrician who take care of him vien with leaving in another hospital then about one d other is going to take care of him all what j knew before his(her,its) depart c is that by telephone she(it) my said that aparament he(it) and negative for the muco he(it) wait for the confirmation by mail of the next day on the other hand she(it) not said that he(it) had a pancreatic insufissance and a quil go cross(spend) d other examinations but has this day not d other answers has all my questions I am lost!!!! Not way(means) to join(contact) the new paediatrician!! Aparament she(it) na not still acquainted with its file(case)!! Even by e-mail no answer!! Can you tell me is what conssaiquence d an insufissance

Answer

Dear questioner,
I do not know if I understand your question right. You seem to have a 14-year-old son and there is the suspicion, he could suffer from CF. It is seemingly not clear, if he has pancreatic insufficiency. As we do not know the exact history of your son, it is not possible to make any diagnosis over the internet in this forum. We can only provide you with general information, that may help you, to understand the current procedures, that are done to your son.
Signs of CF as an underlying illness may be: cough, recurrent infections of the airways, problems with viscous secretions in the airways; in case of pancreatic involvement (which is true in 80% of CF patients): fatty, smelly stools, lacking weight gain, failure to thrive. However, there are also clinical courses of CF, that are milder, and do not show the all the mentioned symptoms or show only very slight symptoms. If there is the clinical suspicion of CF, the gold-standard to rule out this disease is the so-called “sweat test”. This test measures the chloride concentration in the sweat and should be performed at an experienced CF center according to existing guidelines. If the value is very low, CF can in general be excluded, if it is high, CF can be diagnosed. If the result is borderline, other measures to clarify the situation are an option, such as mutation analysis, measurement of the potential difference of the nasal or rectal mucosa, analysis of the pancreatic function (stool fat, pancreatic elastase in the stool), microbiological investigation of airway secretions, and x-ray of the lungs.
The pancreatic involvement can be assessed additionally by measuring the stool fat excretion or by measuring the concentration of a pancreatic enzyme in the stool (pancreatic elastase). If there is a pancreatic involvement, the food cannot be digested properly in the bowel, the stool becomes fatty and bad smelling, lacking of weight gain is the consequence. Today, one can replace the lacking pancreatic enzymes by microencapsuled industrially produced enzymes (Kreon), so that the food can be digested and the symptoms disappear. Because this therapy is easy and effective, it is important to know, if the pancreatic function is o.k. or not in order to start such a therapy.
Hope that has helped you a bit.
Yours sincerely,
Dr. Daniela d’Alquen (coordinator of the Central English Archive of ECORN-CF)

03.06.2014