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N1303K mutation
- Question
- Hello,
I have a question. Although I am aware that the course of illness is different for each mutation, I would like to know how the course will be roughly with the N1303K mutation. My daughter is three years old and has not had any lung problems so far, except that she gets exhausted quickly. We are taking Creon® (pancrelipase) and Ursofalk® (ursodiol) and are inhaling with 6% saline solution. I also noticed that her heart is not beating rhythmically. We went to the doctor and he suggested a 24-hour ECG. Could she already be getting heart problems and how should this be treated? Is a 24-hour ECG sufficient?
Thank you! - Answer
- Hello,
Concerning your question about the N1303K mutation, it has to be said that it is a rather common one in the CFTR gene. A scientific paper showed already in 1992 that this mutation has to be categorized as “grave” or, respectively, a “typical CF mutation.” Patients with this mutation (either homozygous or “compound” heterozygous with a second typical CFTR mutation) usually have pancreatic insufficiency and therefore require a pancreatic enzyme substitute (e.g. Creon®). Concerning the lung symptoms, however, the patients differ significantly. Ultimately, what applies to the most common CF mutation, F508del, is also the case for N1303K: it is also a typical CF mutation (class 2), and it is impossible to predict how the lung affection will progress.
Concerning the heart issue, I cannot give you any information; this question should be answered by a clinician.
Kind regards,
Prof. M. Stuhrmann-Spangenberg
Additional answer by clinician:
Concerning the irregularities of the heartbeat, it has to be said that these are most likely not related to CF, if they exist at all. If the treating colleague suspects that the heart is beating irregularly and, after auscultation, considers this normal, then a 24-hour ECG is sufficient. And you have to consider that extra heartbeats are quite common in healthy individuals and do not have any pathological relevance whatsoever.
Kind regards,
Joachim Bargon - 16.01.2012
