Cabanga nje, ngaphandle kwesizathu esicacile, uhlala uthola umkhuhlane, amalunga abuhlungu, kanye nokuqubuka okuncane emzimbeni wakho wonke. Lokhu kuyanyamalala ezinsukwini ezimbili noma ezintathu, bese kuvela futhi. Uma kwenzeka into efana nale kuwe noma enganeni yakho, imbangela ingaba yisifo esingavamile abantu abaningi abangakaze bezwe ngaso. Namuhla sikhuluma ngesifo esisodwa esinjalo, i-CAPS.
Kusho ukuthini i-CAPS?
Kalula nje, i-Cryopyrin-Associated Periodic Syndromes, noma i-CAPS, iyiqembu lezifo ezingavamile kakhulu zofuzo ezithinta amasosha omzimba ethu. Ngokuvamile, amasosha omzimba ethu asivikela kumagciwane nezinye izifo. Kodwa-ke, kulesi simo se-CAPS, ngenxa yephutha ohlelweni lwamasosha omzimba ngokwalo, luqala ukuhlasela imizimba yethu. Lokhu kubizwa ngokuthi 'isifo sokuvuvukala okuzenzakalelayo' kwezesayensi yezokwelapha. Lokhu kubangela ukuvuvukala okungadingekile emzimbeni, okubangela izimpawu ezifana nokuqubuka kwesikhumba, umkhuhlane, ubuhlungu bamalunga nokuvuvukala, namehlo abomvu.
Kunezinhlobo ezintathu eziyinhloko ze-CAPS. Ake sibone ukuthi ziyini.
| Igama Lesifo | Incazelo kanye nobunzima |
|---|---|
| I-Familial Cold Autoinflammatory Syndrome (FCAS) | Lesi yisifo esingesibi kangako kulezi zinhlobo ezintathu. Njengoba igama lisho, izimpawu zibangelwa ukuchayeka emakhazeni. Izimpawu eziyinhloko umkhuhlane, ubuhlungu bamalunga, kanye nezilonda zesikhumba. Ngokuvamile akubangeli umonakalo wesikhathi eside emzimbeni. |
| I-Muckle-Wells Syndrome (MWS) | Lokhu kuyingozi kakhulu kune-FCAS. Izimpawu zingabangelwa hhayi nje umkhuhlane, kodwa futhi nokucindezeleka nokuzivocavoca . Izimpawu zingaba zimbi kakhulu, futhi abanye abantu bangase balahlekelwe ukuzwa . |
| Isifo Sokuvuvukala Kwezinhlelo Eziningi Zokuzalwa Kwezingane Ezisanda Kuzalwa (i-NOMID) | Lesi yisifo esibi kakhulu nesingavamile kakhulu kuleli qembu lezifo.Uhlobo. Lokhu kuqala ngokushesha nje lapho ingane izalwa. Kubangela ukuvuvukala ezithweni eziningi zomzimba. Kubizwa nangokuthi i-CINCA. Uma kungelashwa kahle, kungabangela umonakalo omkhulu ebuchosheni, emehlweni, nakwezinye izitho zomzimba . |
Yini ebangela i-CAPS?
Imbangela eyinhloko yalokhu ushintsho ku-gene emzimbeni wethu. Uma sikhuluma iqiniso, lesi sifo sibangelwa ukuguquka kwe-gene okubizwa ngokuthi `NLRP3` .
Cabanga ngaleli jini elithi `NLRP3` njengohlelo oluqondisa imizimba yethu ukuthi yenze iphrotheni ebizwa ngokuthi `cryopyrin`. Ngokuvamile, le phrotheni ethi `cryopyrin` isiza imizimba yethu ukuthi ikhiqize into ebizwa ngokuthi `interleukin-1 (IL-1)`, esiza imizimba yethu ukulwa nezifo.
Kodwa ngenxa yokuthi i-gene `NLRP3` kumuntu one-CAPS iyashintshashintsha, iphrotheni `cryopyrin` nayo ayisebenzi kahle. Ihlala itshela umzimba ukuthi wenze i-`IL-1` eningi kakhulu. Lokhu kukhiqizwa ngokweqile kwe-`IL-1` yikho okubangela ukuvuvukala okungadingekile emzimbeni futhi kubangele izimpawu ze-CAPS.
Lesi sifo singavela uma ingane izuza ifa lesakhi sofuzo esiguquliwe kumzali oyedwa kuphela, kungaba umama noma ubaba. Ngezinye izikhathi, isakhi sofuzo singashintsha ngokuzenzekelayo esibelethweni, ngaphandle kwabazali.
Ziyini izimpawu?
Uphawu oluyinhloko noluvame kakhulu lwe-CAPS ukuqubuka okubonakala njengamabhamuza amancane, angalunywayo emzimbeni wonke . Lokhu kuvame ukubonakala lapho umuntu ezalwa. Abanye abantu baba nalezi zilonda njalo, kodwa ziba zimbi kakhulu ngesikhathi sokuqubuka. Ezinye izimpawu ziyahlukahluka kuye ngohlobo lwe-CAPS onalo.
Izimpawu ezingabonakala ku-FCAS
Lezi zimpawu zivame ukuhlala izinsuku ezingu-1-2.
- Imfiva
- Amehlo avuvukile
- Ukugodola
- Ubuhlungu bamalunga
- Isicanucanu
- Ikhanda elibuhlungu
Izimpawu ezibonakala ku-MWS
Lezi zimpawu ziyafika zidlule. Zingahlala izinsuku ezingu-1-3 ngesikhathi.
- Ukuqhuma kwesikhumba
- Umkhuhlane kanye nokubanda
- Ukubomvu kwamehlo
- Ubuhlungu bamalunga
- Ikhanda elibuhlungu kakhulu
- Ukulahlekelwa ukuzwa (izingane ezine-MWS zingase zilahlekelwe ukuzwa kwazo konke noma ingxenye yazo ngesikhathi zifika ebudaleni)
- Isisu esibuhlungu
Izimpawu ezibonakala ku-NOMID
Lezi yizimpawu ezibucayi kakhulu.
- Ikhanda elibuhlungu kakhulu
- Amehlo avuvukele
- Ubuhlungu nokuvuvukala kwamalunga
- Ukuhlanza
- Ukulahlekelwa umbono
- Ukulahlekelwa ukuzwa
Okubalulekile: Uma i-NOMID ingelashwa kahle, iphrotheni ebizwa ngokuthi i-amyloid ingafakwa ezithweni ezibalulekile njengezinso namalunga, okubangela umonakalo omkhulu ngokuhamba kwesikhathi.
Ungasithola kanjani lesi sifo?
Uma ubona udokotela wakho enalezi zimpawu, uzoqala ngokukubuza ngomlando wakho wezokwelapha kanye nowomndeni wakho. Ngemuva kwalokho, bazokuhlola futhi, uma kudingeka, bangakuthumela kwezinye izivivinyo, njengokuthi:
- Ukuhlolwa kwegazi nomchamo: Lokhu kuhlolwa kubheka amazinga aphezulu amangqamuzana amhlophe egazi kanye neprotheyini ephendulayo i-C, okuyizinkomba zokuvuvukala, kanye namaprotheni amaningi emchameni.
- I-biopsy yesikhumba: Isampula encane kakhulu yesikhumba sakho iyathathwa bese ihlolwa ngaphansi kwe-microscope.
- Ukuhlolwa kofuzo: Lokhu kuhlolwa kungaqinisekisa ukuthi une-mutation ku-gene yakho ye-NLRP3. Kodwa-ke, ngezinye izikhathi abantu abane-CAPS bangase babe nalesi gene ngokujwayelekile.
- Ukuhlolwa kwamehlo nendlebe: Lokhu kuhlolwa kwenziwa ukuze kubonakale ukuthi ukubona noma ukuzwa kwakho kuthintekile yini.
- Ukubhoboza kwe-Lumbar: Kuthathwa inani elincane loketshezi lomgogodla emgogodleni bese kuhlolwa izimpawu zokuvuvukala.
- I-MRI scan: Lokhu kungathatha izithombe ezinemininingwane zezakhiwo ezingaphakathi kobuchopho nezindlebe ukuze kubonakale ukuthi kukhona yini izinguquko.
Imibuzo okufanele uyibuze udokotela
Kungumqondo omuhle ukubhala phansi imibuzo onayo ephepheni uma uya kudokotela. Ngaleyo ndlela, ngeke ukhohlwe lutho. Ungabuza imibuzo efana nale:
- Hlobo luni lwe-CAPS enginalo mina (noma ingane yami)?
- Yiziphi izimpawu ezingase zibangelwe uhlobo lwami lwesifo?
- Yikuphi ukwelashwa okuncomayo? Kuzongisiza kanjani?
- Ingabe ikhona imiphumela emibi yokwelashwa?
- Yini engingayenza ekhaya ukuze nginciphise izimpawu?
- Yiziphi ezinye izivivinyo okufanele ngizenze? Kufanele ngizenze nini?
- Ingabe ngidinga ukubona umeluleki wezakhi zofuzo?
Yiziphi izindlela zokwelapha?
Kubaluleke kakhulu ukuqala ukwelashwa kwalesi sifo ngokushesha okukhulu, ngoba uma amehlo, izindlebe, amathambo, noma ubuchopho sekulimale, kunzima kakhulu ukuzibuyisela esimweni esijwayelekile.
Ukwelashwa okuyinhloko yimithi evimbela ukukhiqizwa ngokweqile komzimba kwento ebizwa ngokuthi i-IL-1. Le mithi ilawula ukuvuvukala.
- I-Anakinra (i-Kineret)
- I-Canakinumab (i-Ilaris)
- I-Rilonacept (i-Arcalyst)
Ngaphezu kwalokhu, udokotela wakho angase ancome nezinye izindlela zokwelapha, njenge:
- Ukugqoka ama-splint okusiza ekuhluphekeni nasekuvuvukeni kwamalunga
- Ukwelashwa ngokomzimba
- Imithi efana nama-NSAID, ama-steroids, noma i-methotrexate yokunciphisa umkhuhlane nokuvuvukala
- Izinsiza zokuzwa zabantu abanenkinga yokuzwa
- Ukuhlinzwa uma amalunga onakele
Ungazinakekela kanjani?
Kanye nokwelashwa, ukwenza izinguquko ezincane endleleni yakho yokuphila kungasiza kakhulu ekulawuleni izimpawu.
- Gwema umkhuhlane: Uma unesifo esifana ne-FCAS, isimo sezulu esibandayo singadala izimpawu zakho zibe zimbi kakhulu. Ngakho zama ukuzigcina kude nezinto ezifana nokuhlala emakamelweni e-AC nokuhlala ezindaweni ezibandayo.
- Nciphisa ukucindezeleka: Izinto ezifana nokuzindla, ukuzivocavoca ngokuphefumula okujulile, kanye ne-yoga zingasiza kakhulu ngalokhu.
- Impilo enempilo:
- Bhala kahle.
- Yidla ukudla okunomsoco.
- Gwema ukubhema, utshwala, nokudla okucutshungulwe.
Umlayezo Wokuya Nawe Ekhaya
- I-CAPS yisimo esingavamile, esibangelwa izakhi zofuzo esibangelwa ukukhubazeka ohlelweni lokuzivikela komzimba.
- Izimpawu zayo eziyinhloko umkhuhlane ophindaphindayo, izilonda zesikhumba ezingalunywayo, kanye nobuhlungu bamalunga.
- Lokhu kubangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi
NLRP3. - Kubalulekile ukuxilonga lesi sifo bese uqala ukwelashwa ngokushesha okukhulu ukuze kuvinjelwe umonakalo ongapheli emehlweni, ezindlebeni nakwezinye izitho zomzimba.
- Uma wena noma ingane yakho ninayo noma iyiphi yalezi zimpawu, ningalokothi nizishaye indiva futhi nixhumane nodokotela wakho ngokushesha ukuze nithole iseluleko.
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