Isifo se-Fabry yisifo esingazalwa esizibonakalisa ngokwazo ngezimpawu ezihlukahlukene. Ubukhulu bezokugcina buhlukahluka kuye ngokuthi impilo yonke isiguli, ukuzivikela kwakhe, indlela yokuphila nezinye izici.
Isifo sika-Fabry - siyini?
Izifo zokuqoqwa kwe-Lysosomal yigama elivamile leqembu elilodwa elikhulu lezifo ezingavamile zokuzalwa, ezibangelwa ukuphulwa komsebenzi wama-lysosomes. Ngalesi sigaba kukhona isifo sika-Fabry. Ihambisana nokuncipha komsebenzi we-α-galactosidase, i-enzyme i-lysosome, eyabangela ukuhlenga kwe-glycosphingolipids. Ngenxa yalokho, amafutha aqoqa ngokweqile kumaseli futhi aphazamise ukusebenza kwawo okujwayelekile. Njengomthetho, bahlushwa i-endothelial noma i-smooth muscle cells yegazi, izinso, inhliziyo, isistimu ephakathi kwemizwa, i-cornea.
Isifo sika-Fabry luhlobo lwefa
Lesi sifo sibhekwa njengesifo sohlobo lwe-X ehlanganisiwe. Okokuthi, isifo sika-Fabry sisakazwa kuphela kuma-X-chromosomes. Abesifazane banezinhlangothi ezimbili, ngakho-ke i-anomaly ingazuza ifa yindodana nendodakazi. Amathuba omntwana oneziphambeko zofuzo kuleli cala ngu-50%. Emadodeni, kune-X kuphela i-chromosome eyodwa ye-X, futhi uma ishintshiwe, isifo sika-Anderson Fabry sizotholakala emadodakazini abo enamathuba angu-100%.
Isifo sika-Fabry - izimbangela
Lesi yisifo sofuzo, ngakho-ke imbangela eyinhloko yokubonakala kwayo inguquko yokuguquguquka komzimba kumaGLA-amagciwane - obhekene nokukhokhwa kwe-enzyme. Ngokwezibalo kanye nemiphumela yezifundo eziningi zezokwelapha, i-lysosomal Fabry izifo zokuqoqa izifo zizuze ngamacala angu-95%, kodwa kukhona okuhlukile. Iziguli ezingu-5% "zathola" ukuxilongwa ezingeni lokuqala zokubumbiswa kwembungu. Lokhu kwakungenxa yokuguqulwa okungahleliwe.
Faka isifo - izimpawu
Izimpawu zesifo eziphilayo ezihlukahlukene zibonakalisa ngokwazo ngendlela yazo:
- Amadoda. Kulabo abamele ubulili obunamandla, u-Anderson-Fabry isifo, njengombuso, uqala ukuzibonakalisa kusukela ebuntwaneni. Izimpawu zokuqala: ubuhlungu nokushisa emaphethelweni. Ezinye iziguli zikhononda ngokubonakala kwephunga elibomvu, okuyinto ezimweni eziningi ezihlanganisa indawo kusukela enkabayeni kuya emadolweni. Njengoba lesi sifo siphuthuka kancane, izimpawu ezimbi - ukuhlukumeza esiswini, ukukhala ezindlebeni , ukuvame ukuhamba ngezinhlungu, ukubuyela emuva kanye nokujoyina - kuvela eminyakeni engu-35 kuya kwengu-40 kuphela.
- Abesifazane. Emzimbeni wesifazane, lesi sifo sibonisa izinhlobo eziningi zokubonakaliswa kwemitholampilo. Nakuba ezinye iziguli zingazi ukuthi ziyinkinga yabo, abanye bahlushwa i-corneal dystrophy, ukukhathala, izifo zenhliziyo, i-anhidrosis, ukuphazamiseka kwamathumbu, isifo sezinso, ukulimala kwamehlo, ukuphazamiseka kwezinzwa.
- Izingane. Nakuba ezimweni eziningi izibonakaliso zokuqala zokugula zivela kusenesikhathi, isifo sika-Fabry ezinganeni ngokuvamile siyaqaphela futhi siqala isikhathi esingazi kahle. Izimpawu zokuqala zibuhlungu kanye nama-angiokeratomas, okuvame ukutholakala ngemuva kwezindlebe futhi kunganakwa yizintatheli. Okunye ukubonakaliswa kwalesi sifo kweziguli ezincane: isicanucanu sokuhlanza, isizungu, ikhanda, umkhuhlane.
Faka isifo - ukuxilongwa
Izikhalo zesiguli kuphela zokuxilongwa azanele ngokwachwepheshe. Ukunquma isifo sikaFitry, ukuhlolwa kufanele kuthathwe. Umsebenzi we-α-galactosidase ungabonakala ku-plasma, i-leukocytes, umchamo, ukuphuza amanzi. Ukuxilongwa okuhlukile kufanele kwenziwe ngokucabangela i-telangaectasia enegazi elimangalisayo.
Faka isifo - ukwelashwa
Kusukela ekuqaleni kwama-2000, odokotela bebelokhu besebenzisa ukwelapha endaweni yokulwa nesifo sikaF Fabry. Imithi ethandwa kakhulu yi-Replagal ne-Fabrazim. Bobabili imithi ilawulwa ngaphakathi. Ukusebenza kwezidakamizwa kuyafana - kuncishisa ubuhlungu, kuzinzisa izinso futhi kuvimbela ukuthuthukiswa kwesimo senhliziyo noma ukungaqiniseki okungapheli komzimba.
I-Fabry's syndrome nayo ingasuswa ngokuphathwa kokwelapha. Ama-ankonvulsants asiza ekunciphiseni ubuhlungu:
- I-Diphenine;
- I-Gabapentin;
- I-Carbamazepine;
- I-Pregabalin.
Uma iziguli zakha izinkinga zezinso, zichazwe i- ACE inhibitors nama-block receptor angiotensin II:
- Nika;
- Ramipril;
- I-Losartan;
- Lysinopril;
- I-Valsartan;
- Prestarium;
- I-Irbesartan.
Isifo sika-Fabry - izincomo zomtholampilo
Ukulwa nalesi sifo kuyinkinga enzima futhi echitha isikhathi. Imiphumela emihle yokwelashwa ilinde iziguli ezithile amasonto ambalwa, kodwa isifo sikaFitry, izimpawu kanye nokwelashwa okuchazwe ngenhla, kungavinjelwa. Ukuze kuvinjelwe ukuzalwa kwengane ngesakhi sofuzo, izazi zeluleka ukuhlola ukuhlolwa kwe-perinatal, okubandakanya ukutadisha umsebenzi we-α-galactosidase kumaseli amniotic.