Fabry isifo: izimpawu, ukwelashwa, izithombe

Lesi sifo sibangelwa ngokungabi-enzyme ezibalulekile-alpha-galactosidase A libizwa Fabry isifo, ngemva usosayensi abathintekayo kulolu cwaningo kanye walivula. Ngokokuqala ngqá kuguquka e isakhi sofuzo iye yachazwa ngo-1989 eNgilandi.

Ngaphansi kwezimo ezivamile, lokhu enzyme elikhona cishe wonke amaseli omzimba ehilelekile ukucutshungulwa lipids. Abantu abaye ngofuzo isakhi sofuzo esinephutha, kukhona elibi nenqwaba okunamafutha izakhi ezikulesi lysosomes. Ekugcineni, isifo kuholela ekubhujisweni semithambo odongeni kwamangqamuzana nezicubu. Fabry isifo - a sifo esingavamile esidluliselwa ngofuzo, owaziwa ngokuthi "izifo lysosomal USB".

izimpawu

Lesi sifo, ngokuvumelana bahlolwe isimo sempilo, okokuqala ivela abadala nezingane pre-futhi nokuthomba.

Symptomatology lesi sifo simiswe ngalendlela lelandzelako:

• Burning futhi soreness zingaveli emikhawulweni, ukucasulwa ukuthi ukuzikhandla ngokomzimba nokuxhumana ashisayo. Ubuhlungu ngokuvamile kuhambisana uthi okunomkhuhlane.
• Ubuthakathaka. Isikhathi esining impela, lezi zimpawu ahambisana kwemizwelo ongaphakeme, ukukhathazeka, imizwa yokukhathazeka. Iziguli zizizwe kwemizwa Ukuwohloka futhi ukungalethembi amakhono abo siqu, okuyinto kunciphisa kakhulu izinga lokuphila.
• Kwehliswe ajulukayo.
• Ukukhathala izinyawo nezandla. Man, kanye nokuthuthukiswa isifo, asikwazi ukufeza ngisho izenzo abavamile kakhulu njengoba kubhekene ukutubeka. Oluhambisana emizweni ubuhlungu izimpawu ezinjalo kuholele ukuqedela ukuzisiza.
• Proteinuria. Umkhuhlane, ihambisane nohlelo anda amaprotheni excretion umchamo. Ngokuvamile uphawu kubangela uphethwe ayilungile.
• ukuqubuka wezeMfundo izibunu, imbilapho, izindebe, iminwe.
• iziyaluyalu autonomic.

Cishe ingxenye eyodwa kwezintathu izingane ngesikhathi esifanayo ne izimpawu ngenhla ukuthuthukisa syndrome ngokuhlanganyela. nakho Ingane ezikhulayo ubuhlungu bemisipha, ukwehla umbono, ukuntuleka umsebenzi senhliziyo. Njengoba ukuqhubeka ukuntula enzyme ibizwa waphawula isifo sezinso, umfutho wegazi ophakeme. Noko ke oonyana kokutshelwa ngokukhubazeka kwengane ivelakancane, ngoba kubalulekile kangaka kuwo wonke amafomu ukuba zisebenze izikhungo professional ukuhlolwa kwegazi ezakhini zofuzo.

Odla ifa isifo?

Abantu abaningi bayazibuza ukuthi Fabry isifo kuzibonakalisa, kuyini na? Ngokocwaningo olwenziwa, odokotela baye bafinyelela iziphetho ezilandelayo:

• Lesi sifo ingaqala ku umuntu kungakhathaliseki ubulili.
• Isakhi kubangela ukuthuthukiswa lesi sifo itholakala X-chromosome. Abesilisa babe munye kuphela X-chromosome, futhi uma iqukethe isakhi sofuzo ethintekile, amathuba izimpawu ekuthuthukiseni kuphezulu kakhulu. Umuntu akakwazi ukudlulisela amadodana isifo, kodwa wonke amadodakazi akhe bayokudla ifa le nkinga.
• Abesifazane banama-X-chromosome amabii, ngakho ematfuba bedlulisela lesi sifo izingane yomuntu wesilisa noma wesifazane 50/50%.
• Izimpawu ngokuvamile kwenzeka lapho umuntu esemncane, kanye intsha.
• Isakhi engaphelele itholakala kwelinye ezaphila 12 000, ukuthi akuvamile.

sitholakele isifo

okuyikona Ngokuvamile kunzima ngoba lesi sifo ezingavamile futhi ubonisa lonke uhla izimpawu zokwelashwa. Iziguli esolwa Fabry isifo zihlolwa ongoti ezindaweni ezahlukene zokwelapha.

isipiliyoni esiwusizo ebonisa ukuthi phakathi izimpawu kokuqala uphethwe wokugcina ngokwesilinganiso kuthatha iminyaka engaba ngu-12. Kubalulekile kakhulu ukusungula isifo kusenesikhathi ukuze uthole ukwelashwa okufanele.

bezempilo kufanele usole khona kwale lesion zofuzo, uma umuntu eye wathola inhlanganisela zimpawu engaphezu kwemibili. Ngo lisafufusa Fabry isifo (isithombe-chromosome ethintekile aboniswe ngezansi), cishe ingekho, ngakho uphethwe angadida.

Ukuxilongwa sifo amadoda

Izenzakalo ezilandelayo Kuboshwe abesilisa:

• Lozalo ukuhlaziywa, isihlahla ngokwezinhlu zozalo. Ubujamo bezobulelesi lezinceku lesion, ukubaluleka main e sitholakele iqoqo umlando womndeni. Kodwa amalungu omkhaya othile sifo angase ahlale engaziwa.
• Ucwaningo okuqukethwe enzyme galactosidase egazini.
• DNA ukuhlaziywa - Kwenziwa uma imiphumela ecacile zocwaningo kwamakhemikhali. DNA kungenziwa othathwe iyiphi izinto eziphilayo azithathe.

Fabry isifo: ukuxilongwa izilonda kwabesifazane

Lemisebenti lelandzelako aphathwa ubulili besifazane:

• Lozalo ukuhlaziywa.
• ukuhlaziywa DNA.
• Okuqukethwe enzyme igazi akuyona inkomba eyinhloko sifo, kubangelwa ukusebenza kwawo quin X-chromosome. Kungenzeka ukuthi uhla kungokwemvelo, ngisho noma owesifazane ukugula samanje.

ukuxilongwa kokubeletha

Ucwaningo olwenziwe yi-yokulinganisa ezingeni enzyme izicubu ye-fetus. Lokhu kuyadingeka uma umama uphethwe kofuzo, noma kukhona izinsolo ingane ngidle ifa Fabry isifo. Izimpawu zesifo cishe lingekho emva kokuzalwa, zibonakale ngezingxabano kamuva ekuphileni.

izinkinga ezibangwa

Uma isiguli ayizange lidlule kokuvela kwaleso sifo, futhi lesi sifo ngeke welaphe, ezimweni eziningi, ukuthuthukisa ngenxa yezinkinga ezilandelayo:

• Ukwehluleka oyingozi kwezinso. Umuntu njalo ngokulahlekelwa amaprotheni ku umchamo, okusho ekuthuthukiseni proteinuria.
• Ukushintsha ukuma kwenhliziyo. Lapho elalele Kutholwe esingamahlalakhona of valve inhliziyo, ukusikwa spasmodic.
• Impairments kwegazi flow ebuchosheni. Isiguli sibe isiyezi njalo, isimo esibucayi yokuthola isifo sokufa kohlangothi.

ukwelashwa

Abantu okusolakala kokuba Fabry isifo ithunyelwa izikhungo ezikhethekile, lapho kukhona nakho ekwelapheni izifo lysosomal USB. Kulezi izikhungo waqinisekisa khona sihlahla bese zilandelwa yokwelapha ezifanele.

Kuze kube kowezi-2000, i-basic isimiso zokwelapha yayihloselwe ekunqobeni izimo ezingezinhle ukuvela ukuqhubeka kwesifo. Okwamanje, indlela ehlukile isetshenziselwa ukusiza ukuqeda hhayi nje izimpawu ezibangela Fabry isifo. Ukwelashwa siqukethe yokwelapha enzyme esikhundleni. Iziguli prescribers alpha, i-beta-galactosidase.

Fabry isifo (izimpawu nocwaningo uvunyelwe ukusungula okuyikona) kungaphansi ukwelashwa ngokushesha. It wenziwa ngomjovo, isiguli uthola njalo ngemva kwamasonto amabili. Le ndlela kungenziwa lwenteke ngosizo umhlengikazi ngawo emtholampilo noma ekhaya, uma umuntu kahle ukubekezelela ukumnika. Ukwelashwa ivumela kulesetayelekile umzimba, eqeda yokuphindela izimpawu, ekuvimbeleni ukukhumuzeka isifo.

Umuthi main esetshenziselwa esikhundleni kubhekwa "Replagal." Isixazululo uphumile ku izitsha eziyisikhombisa 5 ml. Kusho has tolerability ezinhle, ezimweni ezingajwayelekile okuvela amathuba okuba nemiphumela engemihle: ukulunywa, ubuhlungu besisu, imfiva.

Uma yisifo esibangela izinhlungu ezinzima, iziguli zingase ngaphezu kwalokho babelwe anticonvulsants, analgesics, non-steroidal ejenti eqeda ukuvuvukala.

Ochwepheshe abaningi bakholelwa ukuthi uphethwe yini kanye nokwelashwa Fabry isifo bayakwazi ukushintsha inkambo wemvelo lesi sifo. ukusetshenziswa ngendlela efanele ekwelashweni esikhundleni ungayeka ukuthuthukiswa yayo.

nokwenganyelwa kwigumbi lokwenza ucwaningo

On isizinda Yiqiniso kuyadingeka ukuze afeze isinqumo ambalwa tseramidtrigeksozida. Encwadini yokwelashwa okuphumelelayo lokuhlushwa yayo incipha. Kwezinye izifundo zokwelapha, ukusebenza inkomba lisezingeni elinjani sphingosine globotriaozil.

Imijovo akuzona abamiswe phakathi nokukhulelwa kanye lactation, uma owesifazane engathandi ezinye izifo zethula ingozi empilweni.

Imiphumela

Fabry isifo - a iziyaluyalu sina zofuzo ephelezelwa ubuhlungu, eziya ziba zimbi izinga lempilo kanye okuholela kuwukwephula amandla angokomthetho. Kuningi iziguli ungatholi ukwelashwa okufanele, ngakho-ke abakwazi ukusebenza ngempumelelo, cwaningo, esekhala umuzwa ukukhungatheka, ukukhathala, ukucindezeleka nokukhathazeka.

Kobukhulu izimpawu zingase zibe zimbi nsuku zonke ekuthuthukiseni lesi sifo, futhi sokuphila abantu abaphethwe yiso, nge-avareji engu-15 kunalawo neningi. Kodwa Fabry isifo - akuyona isigwebo sokufa, nalesi sifo, uma replacement therapy, angaphila impilo egcwele.