Diagnosis

Question

Hello,
our son was born via cesarian section due to fetal ascites in case of meconium peritonitis due to meconium ileus and volvulus. The genetic investigation showed a mutation in exon 10 of the CFTR gen c 1521_1523del (p.Phe508del) and in intron 10 of the CFTR gene c1585-1G>A (c1717-1G>A) heterozygous.
Are there any experience reports in case of such a course about the ongoing course and the prognosis?
Until now everything went actually without complications, he was born in the 35th week of gestation and had not to be intubated, also he tolerated well the operation, only the enteral feeding was problematic (slowly with mothermilk).

Answer

Dear questioner,
the result of the mutation analysis F508del-CFTR and 1717-1 G->A allows without doubt the diagnosis of cystic fibrosis for your son, namely the typical course (e.g. with expectable but therapeutically treatable impaired function of the pancreas). As we know, that all CF patients profit from a specialized team of physicians and physiotherapists, I hope, that you already are in contact with a specialized CF-center. Cystic fibrosis is a complex multi-organ disease with very individual courses, whose therapy is most successful if an experienced CF-team adapts the treatment to the situation in any individual case.
Now to your question on the course of the illness: on the basis of the mutation genotype only the prediction is for sure that it deals with a typical CF - therefore the European CF-association dehorts explicitly of a further prediction of the course of the illness, as besides the CFTR-mutation genotype numerous other influence factors play a role, especially for the course of the lung disease. Especially the influence factors "therapy", "physician", "drugs" and "environment" have to be mentioned.
I would like to congratulate at this place for the birth of your son - I am glad, that after the for sure burdening message of the CF-diagnosis you describe the birth to have been free of complications in spite of meconium ileus. Furthermore I am glad, that you can do breast-feeding (that can today unfortunately not be taken for granted, but good!). Furhtermore: please consult a CF-center near your home about the medical procedure, in order your son gets an optimal access to all therapeutic possibilities from the beginning.
With my best wishes,
Frauke Stanke

15.07.2013