Uma wena noma othandekayo wakho nitholakale ninesifo iGaucher, kufanele wazi ukuthi aniwedwa. Isifo iGaucher sithinta ukuzalwa okuphilayo okungu-1 kwabangu-40.000 kubantu abaningi.
Yini
Isifo se-Gaucher singenye yezinkinga ezivame kakhulu zokugcina i-lysosomal futhi sibangelwa ukunganele kwe-glucocerebrosidase, i-enzyme ebalulekile ephula ikhemikhali enamafutha ebizwa ngokuthi i-glucocerebroside. Ngenxa yokuthi umzimba awukwazi ukuphula le khemikhali, amaseli e-Gaucher agcwele amafutha aqoqana ezindaweni ezifana ne-spleen, isibindi, umnkantsha, kanye nesistimu yezinzwa, okuphazamisa ukusebenza okuvamile.
Izinhlobo
Kunezinhlobo ezintathu zesifo se-Gaucher ezaziwayo, ngasinye sinezimpawu eziningi ezahlukene. Uhlobo 1 luvame kakhulu, aluthinti isimiso sezinzwa, futhi lungabonakala esemncane noma lapho umuntu esemdala. Abantu abaningi abanesifo se-Gaucher sohlobo 1 banezimpawu ezincane kangangokuthi abakaze babhekane nezinkinga ezibangelwa yilesi sifo.
Izinhlobo 2 no-3 zithinta isimiso sezinzwa. Uhlobo 2 ludala izinkinga zezempilo ezingathi sÃna kusukela ebuntwaneni, kuyilapho uhlobo lwesi-3 luhamba kancane kunohlobo 2. Kukhona nezinye, amafomu angajwayelekile okunzima ukuwahlukanisa phakathi kwezinhlobo ezintathu.
Isifo se-Gaucher sibangelwa izinguquko (ukuguqulwa kwezakhi zofuzo) ku-gene eyodwa ebizwa ngokuthi i-GBA . Ukuguqulwa kwezakhi zofuzo ze-GBA kubangela amazinga aphansi kakhulu e-glucocerebrosidase. Umuntu onesifo se-Gaucher uthola ikhophi eyodwa eguquliwe yezakhi zofuzo ze-GBA kumzali ngamunye.
Uhlobo 1 luvame kakhulu kubantu bozalo lwama-Ashkenazi Jewish (eMpumalanga Yurophu). Isifo i-Gaucher uhlobo 1 sivela kumuntu oyedwa kwabangu-500 kuya kumuntu oyedwa kwabayi-1000 bozalo lwama-Ashkenazi Jewish, futhi cishe oyedwa kwabayi-14 bamaJuda ase-Ashkenazi ungumthwali waso. Izifo ze-Gaucher uhlobo 2 nohlobo 3 azivamile.
Ukuba ngumthwali wesifo
Uma ungumthwali wesifo i-Gaucher, kusho ukuthi unofuzo olulodwa kuphela oluhlobene nesifo. Ukuze ube nesifo sangempela, udinga ukuba nezinguquko ezimbili esakhiweni sofuzo: eyodwa ivela kumama wakho kanye neyodwa evela kubaba wakho.
Uma bobabili abazali bengabathwali balesi sifo, ukukhulelwa ngakunye kunethuba elilodwa kwamane lokuzalwa kwengane enalesi sifo. Abantu abathwali besifo seGaucher abanazo izimpawu noma izimpawu.
Izimpawu
Izimpawu zesifo sikaGaucher ziyehluka kakhulu kulabo abaphethwe yilesi sifo. Izimpawu zomtholampilo eziyinhloko zihlanganisa:
- Ukwandiswa kwesibindi nobende (hepatosplenomegaly).
- Inani eliphansi lamaseli abomvu egazi (i-anemia).
- Ukulimaza okulula kubangelwa, ngokwengxenye, izinga eliphansi lamaplatelet (thrombocytopenia).
Izifo zamathambo (ubuhlungu bethambo kanye nokuphuka). - Ezinye izimpawu ezincike ohlotsheni lwesifo i-Gaucher zihlanganisa izinkinga zenhliziyo, amaphaphu, nesistimu yezinzwa.
Izimpawu ngohlobo lwesifo
Izimpawu zohlobo loku-1 lwesifo se-Gaucher zihlanganisa isifo samathambo, i-hepatosplenomegaly, i-anemia kanye ne-thrombocytopenia, nesifo samaphaphu.
Izimpawu zohlobo 2 nohlobo 3 lwesifo i-Gaucher zihlanganisa uhlobo 1 nezinye izinkinga ezithinta isimiso sezinzwa, njengezinkinga zamehlo, ukuquleka, nokulimala kobuchopho. Kuhlobo 2 lwesifo i-Gaucher, izinkinga ezinkulu zezokwelapha ziqala ebuntwaneni. Laba bantu ngokuvamile abaphili ngaphezu kweminyaka emibili.
Ezinye iziguli ezinesifo se-Gaucher uhlobo 2 ziyafa esikhathini sokuzalwa , ngokuvamile zinezinkinga zesikhumba ezinzima noma ukuqongelela uketshezi ngokweqile (ama-hydrops). Abantu abanesifo se-Gaucher uhlobo 3 bangase babe nezimpawu ngaphambi kokuba baneminyaka emibili, kodwa bavame ukuba nesifo esihamba kancane kancane, futhi izinga lokubandakanyeka kobuchopho liyahlukahluka kakhulu. Ngokuvamile banokunyakaza kwamehlo okuhamba kancane.
Muva nje kuphawulwe ukuthi zombili iziguli ze-Gaucher kanye nabathwali be-Gaucher banengozi eyengeziwe yokuthola isifo sika-Parkinson kanye nokuphazamiseka okuhlobene.
Ukuxilongwa
Ukuxilongwa kwesifo iGaucher kusekelwe ezimpawini zomtholampilo kanye nokuhlolwa kwelebhu. Ukuxilongwa kwesifo iGaucher kungase kusolwe kubantu abanezinkinga zamathambo, ukwanda kwesibindi kanye ne-spleen (i-hepatosplenomegaly), izinguquko emazingeni amangqamuzana abomvu egazi, ukopha kalula kanye nokushayeka ngenxa yama-platelet aphansi, noma izimpawu zezinkinga zesistimu yezinzwa.
Ukuhlolwa kwelabhorethri kuhilela ukuhlolwa kwegazi ukuze kulinganiswe izinga lomsebenzi we-enzyme i-glucocerebrosidase. Abantu abanesifo se-Gaucher banamazinga aphansi kakhulu alo msebenzi we-enzyme. Uhlobo lwesibili lokuhlolwa kwelabhorethri luhilela ukuhlaziywa kwe-DNA ye-gene ye-GBA yezinguquko ezine ezivame kakhulu ze-GBA. Kokubili ukuhlolwa kwe-enzyme kanye ne-DNA kungenziwa ngaphambi kokuzalwa. Akudingeki ukuhlolwa komnkantsha noma kwesibindi ukuze kutholakale ukuxilongwa.
Uma ukuguqulwa kofuzo okuqondile okubangela isifo se-Gaucher kwaziwa emndenini, ukuhlolwa kwe-DNA kungasetshenziswa ukukhomba ngokunembile abathwali. Nokho, ngokuvamile akwenzeki ukubikezela inkambo yomtholampilo yesiguli ngokusekelwe ekuhlolweni kwe-DNA.
Ukwelapha
Isifo i-Gaucher uhlobo 1, uhlobo oluvame kakhulu lwesifo i-Gaucher emazweni aseNtshonalanga, luyelapheka. Izimpawu ezingezona ezezinzwa ezihlobene nohlobo 3, uhlobo oluvame kakhulu lwesifo emhlabeni wonke, nazo zingelashwa. Ezigulini zohlobo 3 ngaphandle kokubandakanyeka kobuchopho okunzima noma okubi kakhulu, ukwelashwa kunganciphisa izimpawu futhi kuthuthukise impilo iyonke.
Ukwelashwa okutholakalayo kufaka phakathi ukwelashwa kokufaka ama-enzyme kanye nokwelashwa kokunciphisa i-substrate. Kubalulekile ukusebenza nochwepheshe we-Gaucher ongaqapha impilo yakho futhi alungise imithi yakho njengoba kudingeka.
Ukwelashwa kokubuyisela ama-enzyme
Ukwelashwa kokufaka esikhundleni sama-enzyme kulinganisela amazinga aphansi e-glucocerebroside (GCase) ezigulini ezinesifo se-Gaucher ukuze imizimba yazo ikwazi ukuphula i-glucocerebroside. (Lokhu kuhlanganisa i-enzyme engekho, yingakho ukwelashwa kubizwa ngokuthi ukufakelwa esikhundleni sama-enzyme.) Lokhu kwelashwa kuhilela ukuthola ukumpontshelwa ngemithambo yegazi cishe njalo emavikini amabili, kungaba esikhungweni sokumpontshelwa igazi noma ekhaya.
Ukwelashwa kokunciphisa i-substrate
Ukwelashwa kokunciphisa i-substrate kuyindlela entsha yokwelapha esebenza ngendlela ehlukile kunokwelashwa kwangaphambilini. Lolu hlobo lokwelashwa luwumuthi ophuzwayo onciphisa inani le-glucocerebroside ekhiqizwa ngumzimba , okunciphisa ukunqwabelana ngokweqile.