delta F508 and R1070W

Question

My boy 3yo has been diagnosed with CF heterosigotus of delta F508 (7T-9T polimorfism) and R1070W (in exon 17b
This mutation R1070W alters an arginine into a tryptophane on amino acid position 1070 of the resulting protein (p.Arg1070Trp).

He never had pulmonary infections and is pancreatic sufficient (faecal elastase is normal). He is 100 cm and 15,5 kg. He has been diagnosed as result of several severe dehydration through perspiration, at the age of 7-11 monts. The sweat test had three different values(but was 68 after several days of NaCl perfusions, then 59 done 3 weeks after the perfusion was stopped, and 49 - few months later). He now receives Humana Electrolytes with every glass of water and daily aerosols 4 ml of 3,5 concentration of NaCl.

He has normal abdominal echography. We have investigated, and at the echography and surgeon control (hand touch), it seems like he might have deferent vases.
What would be the prognosis in his case? How can I realize his lungs are affected over time?
Thank you.

Answer

Dear Parent
Thank you for your question regarding your child with CF genetics delta F508/R1070W
The question of the severity of symptoms with these two mutations has already been dealt with in previous answers.
This answer will therefore concentrate on the congenital bilateral absence of the vas deferens (CBAVD).
Studies report that around 98% males with CF have CBAVD leading to infertility. The R1070W mutation is usually associated with CBAVD.
The defect in the CFTR protein affects formation of the ejaculatory ducts, seminal vesicles, vas deferens and the distal 2/3 of the epididymis.
Clinical findings on examination of the testes should reveal normal testicular volume, enlarged/hardened epididymis, nodules in the epididymis or vas deferens and absence or partial atresia of the vas deferens.
Ultrasound scan (USS) of the scrotum can help look for signs of obstruction/ absence of the vas deferens. Transrectal USS can be performed in adults if a more distal obstruction is suspected but would not usually preformed in children.
Confirmation of a diagnosis of CBAVD in adulthood is made by assessing a combination of factors
• a small volume of ejaculate
• absence of spermatozoa (however spermatogenesis {production of sperm}is usually intact)
• increased acidity of the seminal fluid(pH

23.01.2012

The answer is edited by: Laura Jenkins