Uma wena noma othandekayo kutholwe ukuthi unesifo i-Gaucher, yazi ukuthi akuwena wedwa umuntu emhlabeni ohlangabezana nalokhu. Isifo se-Gaucher sithinta ingane eyodwa kwezingama-1 kubantu abavamile.
Yini
Isifo i-Gaucher singenye yezinkinga ezivame kakhulu zokugcinwa kwe-lysosomal futhi umphumela wokungabi nayo i-glucocerebrosidase eyanele, i-enzyme ebalulekile ephula ikhemikhali enamafutha ebizwa ngokuthi i-glucocerebroside. Ngenxa yokuthi umzimba awukwazi ukudiliza leli khemikhali, amangqamuzana e-Gaucher agcwele amafutha anqwabelana ezindaweni ezinjengobende, isibindi, umnkantsha wamathambo, nesimiso sezinzwa esiphazamisa ukusebenza okuvamile.
Izinhlobo
Kunezinhlobo ezintathu ezaziwayo zesifo i-Gaucher futhi ngayinye inezinhlobonhlobo zezimpawu. Uhlobo 1 luvame kakhulu, Ayithinti isimiso sezinzwa futhi ingavela ekuqaleni kwempilo noma lapho isikhulile. Abantu abaningi abanesifo i-Gaucher type 1 banezimpawu ezithambile kangangokuthi abalokothi babe nezinkinga ezivela kulesi 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) kufuzo olulodwa olubizwa nge-GBA.. Ukuguqulwa kofuzo ku-GBA kubangela amazinga aphansi kakhulu e-glucocerebrosidase. Umuntu onesifo i-Gaucher uthola ikhophi eguquliwe yofuzo lwe-GBA kubazali bakhe ngamunye.
Uhlobo loku-1 luvame ukutholakala phakathi kwabantu abanokhokho abangamaJuda base-Ashkenazi (Eastern Europe). Isifo se-Gaucher uhlobo 1 sikhona ku-1 kwabangu-500 kuya ku-1 kubantu abayi-1000 bokhokho abangamaJuda base-Ashkenazi, futhi cishe oyedwa kwabangu-1 bamaJuda base-Ashkenazi ungumthwali. Izifo ze-Gaucher zohlobo 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.
Lapho bobabili abazali bengabathwali, ukukhulelwa ngakunye kunethuba elingu-1 kwamane lokuthi ingane izalwe inalesi sifo. Abantu abanesimo sokuthwala isifo i-Gaucher 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.
Kukhona futhi ezinye iziguli ezinesifo i-Gaucher type 2 ezishona ngesikhathi sosana., ngokuvamile ngezinkinga ezinzima zesikhumba noma ukunqwabelana koketshezi okweqile (i-dropsy). Abantu abanesifo se-Gaucher sohlobo 3 bangase babe nezimpawu ngaphambi kweminyaka emibili, kodwa ngokuvamile babe nenqubo yesifo ehamba kancane futhi izinga lokubandakanyeka kobuchopho liyahlukahluka kakhulu. Ngokuvamile zihamba kancane kancane ezivundlile zamehlo.
Muva nje kuphawulwe ukuthi zombili iziguli ze-Gaucher kanye nabathwali be-Gaucher banengozi eyengeziwe yokuthola isifo sika-Parkinson kanye nokuphazamiseka okuhlobene.
Ukuxilongwa
Ukuxilongwa kwesifo sikaGaucher kusekelwe ezimpawu zomtholampilo kanye nokuhlolwa kwaselabhorethri. Ukuxilongwa kwesifo i-Gaucher kungase kusolwe kubantu abanezinkinga zamathambo, isibindi esikhudlwana kanye ne-spleen (i-hepatosplenomegaly), izinguquko emazingeni abomvu egazi, ukopha kalula kanye nemihuzuko evela kumaplatelet aphansi noma izimpawu zezinkinga zesimiso sezinzwa.
Ukuhlolwa kwaselabhorethri kuhilela ukuhlolwa kwegazi ukukala izinga lomsebenzi we-enzyme i-glucocerebrosidase. Abantu abanesifo se-Gaucher banamazinga aphansi kakhulu alo msebenzi we-enzyme. Uhlobo lwesibili lokuhlolwa kwaselabhorethri lubandakanya ukuhlaziywa kwe-DNA yofuzo lwe-GBA yezinguquko ezine ze-GBA ezivame kakhulu. Kokubili ukuhlolwa kwe-enzyme kanye ne-DNA kungenziwa ngaphambi kokubeletha. I-bone marrow noma i-biopsy yesibindi akudingekile 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 type 1, uhlobo oluvame kakhulu lwesifo i-Gaucher emazweni aseNtshonalanga, siyelapheka. Izimpawu ezingezona ezezinzwa ezihlobene nohlobo lwesi-3, uhlobo lwesifo oluvame kakhulu emhlabeni wonke, nazo zingelashwa. Ezigulini zohlobo 3 ngaphandle kokubandakanyeka kobuchopho okunzima noma okubi kakhulu, ukwelashwa kwesifo i-Gaucher kunganciphisa izimpawu futhi kuthuthukise impilo yonke.
Imithi yokwelapha etholakalayo ihlanganisa ukwelashwa kokubuyisela ama-enzyme kanye nokwelashwa kokunciphisa i-substrate. Kubalulekile ukusebenzisana nochwepheshe wakwa-Gaucher ongaqapha impilo futhi enze izinguquko zomuthi njengoba kudingeka.
Ukwelashwa kokubuyisela ama-enzyme
Ukwelashwa kokubuyisela ama-enzyme kulinganisa amazinga aphansi e-GCase ezigulini ezinesifo i-Gaucher ukuze imizimba yazo yephule i-glucocerebroside. (Lokhu kunxephezela i-enzyme engekho, yingakho ukwelapha kubizwa ngokuthi ukubuyisela i-enzyme.) Lokhu Ukwelashwa kuhilela ukumpontshelwa ngemithambo cishe njalo emavikini ama-2, kungaba sesikhungweni sokumpontshelwa igazi noma ekhaya.
Ukwelashwa kokunciphisa i-substrate
Ukwelashwa kokunciphisa i-substrate ukwelashwa okusha okusebenza ngendlela ehlukile kunokwelashwa kwangaphambilini. Lolu hlobo lokwelashwa luwumuthi womlomo owehlisa inani le-glucocerebroside elikhiqizwa umzimba., kunciphisa ukunqwabelana ngokweqile.