Važnost informisanja roditelja i članova porodice o nasleđivanju rizičnog X hromozoma kod distrofinopatija

Abstract

Genetsko savetovalište je značajn vid podrške roditeljima koji imaju dete sa nekim genetskim ili negenetskim poremećajem, ali i onima koji planiraju porodicu, posebno ukoliko imaju pozitivnu porodičnu istoriju malformacija ili genetskih oboljenja. Genetsko savetovanje pomaže članovima porodice da razumeju i prihvate bolest, i daje smernice za donošenje odluka u smislu daljih genetskih testiranja i moguće prevencije. U radu je kroz Dišenovu i Bekerovu mišićnu distrofiju dat model H-vezanog recesivnog nasleđivanja, njegove specifičnosti, moguća testiranja obolelih i žena prenosioca, kao i poteškoće u proceni rizika za ponovno javljanje bole- sti (nove mutacije, germinativni mozaicizam kod majke). Činjenica da su žene uglavnom fenotipski zdravi prenosioci mutacije, otežava njihovo blagovre- meno otkrivanje. Ipak, oko 20% žena prenosioca ima simptomatologiju pore- klom skeletnih i/ili srčanog mišića. Važnost informisanja roditelja i članova porodice, kao i otkrivanje žena prenosioca mutacije, jeste rađanje zdravog deteta, ali i potreba za kardio- loškim praćenjem žena prenosioca mutacije.

Genetic counseling is a significant form of support for parents who have a child with a genetic or non-genetic disorder, but also for those planning a family, especially if they have a positive family history of malformations or genetic diseases. Genetic counseling helps family members to understand and accept the disease and provides guidance for decision making in terms of further genetic testing and possible prevention. In the paper, through Duchenne and Becker muscular dystrophy, we gave an overview of X linked recessive inheritance pattern, its specificity, possible testing of diseased and female carriers, as well as difficulties in assessing the risk of disease recurrence (new mutations, germline mosaicism in the mother). The fact that women are generally phenotypically healthy carriers of the mutation makes it difficult to detect them in a timely manner. However, in about 8% of cases, women are manifest carriers of symptoms on skeletal muscle, and in about 20% of cases, cardiac muscle is involved.The importance of informing parents and family members, as well as the carrier detection, is the birth of a healthy child, but also the need for cardiac monitoring of women carrying the mutation.