Isifo se-Fabry sisifo esiza kuzalwa esizibonakalisa ngeempawu ezininzi. Ubunzima bokugqibela buhluka ngokuxhomekeke kwimpilo yonke yesigulane, ukukhusela kwakhe, indlela yokuphila kunye nezinye izinto.
Isifo sikaFitry - yintoni na?
Izifo zokuqokelela i-Lysosomal yigama eliqhelekileyo linye iqela elikhulu lezityalo ezingabonakaliyo ezifa, ezibangelwa ukuphulwa komsebenzi we-lysosomes. Kule nkalo kuphela isifo sikaFitry. Inxulumene nokuncipha komsebenzi we-α-galactosidase, i-enzyme ye-lysosome, enoxanduva lokucoca kwe-glycosphingolipids. Ngenxa yoko, amafutha aqokelela ngokugqithiseleyo kwiiseli aze aphazamise ukusebenza kwazo ngokuqhelekileyo. Njengomthetho, zithintela i-endothelial okanye i-cell muscle ehamba kakuhle kwimithambo yegazi, izintso, intliziyo, inkqubo ye-nervous system, i-cornea.
Isifo sikaF Fabry luhlobo lomlifa
Esi sifo sithathwa njengesigxina sokuzaliswa kwemvelo kunye nohlobo oluxhaseneyo lwelifa. Okokuthi, isifo sikaFitry sisasazwa kuphela kwi-X-chromosomes. Abasetyhini banabini, kwaye ngoko ke i-anomaly ingayifumana ilifa ngonyana kunye nentombi. Ubunokwenzeka bomntwana onokuphambuka ngokwemizimba kulo mzekelo ngu-50%. Kwamadoda, kukho enye i-X ye-chromosome, kwaye xa ithe yaguqulwa, isifo sikaAnderson Fabry siya kufumaneka kwiintombi zabo ngokunokwenzeka ukuba i-100%.
Isifo sikaFitry - sizathu
Esi sifo sesifo somzimba, kwaye ngoko ke imbangela enkulu yokubonakala kwayo yinguqulelo lwentlangano kwii-GLA-jeni - ezijongene nekhowudi ye-enzyme. Ngokwezibalo kunye nemiphumo yezifundo ezininzi zezokwelapha, i-lysosomal Fabry izifo zokuqokelela izifo zizuze kwii-95% zamatyala, kodwa kukho ukungafani. I-5% yezigulane "ezifumene" ukuxilongwa kwizigaba zokuqala zokubumba kwembungu. Oku kungenxa yokuguqulwa kweengxaki.
Isifo se-Fabry - iimpawu
Izimpawu zesifo kwizinto eziphilayo ezahlukeneyo zibonakalisa ngokwazo ngendlela yazo:
- Amadoda. Kwimmeli yesini esomeleleyo, isifo sika-Anderson-Fabry, njengomthetho, siqala ukubonakalisa ukususela ebuntwaneni. Impawu zokuqala: intlungu kunye nokutshisa ekupheleni. Ezinye izigulana zikhalaza ngokubonakala kwekhasi elibomvu, elineemeko ezininzi ezibandakanya indawo ukusuka kwintonga ukuya emadolweni. Njengoko eso sifo siphucula ngokukhawuleza, iimpawu ezinzulu - isisu esiswini, ukukhalaza ezindlebeni , ukunyamezela ukunyakaza kwezilwanyana, intlungu ephindaphindiweyo kunye kunye kunye kunye ne-joint - iyafumaneka kuphela kwiminyaka engama-35 ukuya kwe-40.
- Bafazi. Kwinqanaba lomfazi, isifo sibonisa uluhlu olubanzi lweembonakaliso zekliniki. Nangona ezinye izigulane ziyazi ingxaki yazo, abanye bahlushwa yi-corneal dystrophy, ukukhathala, ukuphazamiseka kwengqondo, i-anhidrosis, ukuphazamiseka kwesisu, isifo sesifo, ukulimala kwamehlo, ukuphazamiseka kwegazi.
- Abantwana. Nangona kunjalo kwiimeko ezininzi zokuqala ukugula kubonakala, isifo sika-Fabry kubantwana sisoloko singabonakali kwaye siphumelele ekugqibeleni. Iimpawu zokuqala zintlungu kunye neengiokeratomas, ezihlala zikhona emva kweendlebe kwaye zihoywa iingcali. Ezinye izibonakaliso zesifo kwizigulana ezincinci: i-nusea kunye nokuhlanza, isisu, isisu, umkhuhlane.
Isifo se-Fabry - ukuxilongwa
Izikhalazo zezigulane zokuxilonga azifumaneki ngokweenzululwazi. Ukufumana isigulo sikaFitry, iimvavanyo kufuneka zithathwe. Umsebenzi we-α-galactosidase ungabonwa kwi-plasma, i-leukocytes, umchamo, ukuphuza amanzi. Ukuxilongwa ngokungafaniyo kufuneka kwenziwe ngokubhekiselele kwi-telangaectasia enomdla.
I-Fabry izifo - unyango
Ukususela ekuqaleni kwee-2000, oogqirha baye basebenzise ngokuthe ngconywa unyango endaweni yokulwa nesifo sikaFrusry. Amayeza athandwayo kakhulu asePlagal naseFrarazim. Zomibini iziyeza zilawulwa nge-intravenously. Ukusebenza kwezidakamizwa kuyafana okufanayo - banciphisa intlungu, bazinzisa iinjongo kwaye banqanda ukuphuhliswa kwengqondo okanye ukungazinzi umzimba.
I-Fabry's syndrome nayo inokukhutshwa ngonyango olumqondiso. I-Ankonvulsants inceda ekunciphiseni ubuhlungu:
- IDiphenine;
- Gabapentin;
- ICarbamazepine;
- Pregabalin.
Ukuba izigulana zikhula iingxaki zeengtso, zichazwe i- ACE inhibitors kunye ne-angiotensin II i-receptor blockers:
- Ukukhupha;
- Ramipril;
- Losartan;
- Lysinopril;
- Valsartan;
- Prestarium;
- Irbesartan.
Isifo sika-Fabry - iingcebiso zeklinikhi
Ukulwa nale syndrome kuyinkqubo enzima kwaye ichitha ixesha. Iziphumo ezilungileyo zonyango zilinde ezinye izigulane kwiiveki ezimbalwa, kodwa isifo sika-Fabry, iimpawu kunye nonyango oluchazwe ngasentla, lunokuthintelwa. Ukuthintela ukuzalwa komntwana onomdla wokuguquka, iingcali zicebisa ukuba zenze i-diagnosis ye-perinatal, equka ekufundeni umsebenzi we-α-galactosidase kumaseli amniotic.