Izifo Ezivuthayo Ezivame Ukubonwa Kwezinye Amaqembu Ezizwe
Imfiva yaseMediterranean yaseMediterranean (FMF) iyisifo esingajwayelekile esidalwa yi-genetic esibukeka ngokuyinhloko kubantu abathile bezizwe. Kubonakala ngezibhamu eziphindaphindiwe zomkhuhlane, ubuhlungu be-appendicitis-njengobuhlungu besisu, ukuvuvukala kwamapayipi, nokuvuvukala, amajoyini abuhlungu.
Njengengcindezi engapheli, ephindaphindiwe, i-FMF ingabangela ukukhubazeka kwesikhashana futhi imonakalise kakhulu izinga lomuntu lomuntu.
Ngenhlanhla, izidakamizwa ezintsha, ezilwa nokuvuvukala ziye zaphela kodwa zaqeda ukubonakaliswa okukhulu kwesifo.
I-FMF iyinkinga ye- autosomal ehlukumezayo, okusho ukuthi izuze kubazali bomuntu. Lesi sifo sihambisana nezinguquko e-Mediterranean Fever (MEFV) isakhi sezinhlobo ezingaphezu kwezingu-30. Ukuze umuntu abone izimpawu, kuzodingeka ukuthi athole amakhophi ashintshiwe kusukela kokubili kwabazali. Ngisho noma kunjalo, ukuba namakhophi amabili akusho njalo ukugula.
Nakuba kungavamile kubantu abaningi, i-FMF ibonakala kaningi kumaJuda aseSephardic, amaJuda aseMizrahi, ama-Armenia, i-Azerbaijan, ama-Arabhu, amaGreki, amaTurkey namaNtaliyane.
Ukugula Kanjani
Ngokungafani nesifo sokuzimela esisodwa lapho amasosha omzimba ahlasela khona amangqamuzana ayo, i-FMF yisifo esithinta izifo lapho isimiso somzimba sokuzivikela sangasese (ukuvikelwa komugqa wokuqala) kungasebenzi nje ngendlela efanele.
Izifo ezibulalayo ezibonakalayo zibhekene nokuvuvukala okungavinjelwe, ikakhulukazi ngenxa yesifo esizuzwe njengefa.
Nge-FMF, ukuguquguquka kwe-MEFV cishe kuhlasela njalo i-chromosome 16 (enye yama-23 ama-chromosomes akha i-DNA yomuntu ). I-Chromosome 16 inesibopho, phakathi kwezinye izinto, ukwakha amaprotheni okuthiwa i-pyrin atholakala kwamanye amaseli egazi amhlophe avikelayo.
Ngesikhathi umsebenzi we-pyrin usengacacile ngokuphelele, abaningi bakholelwa ukuthi amaprotheni anesibopho sokubamba ukuphendula komzimba ngokuvikela ukuvuvukala.
Kokuhluka kwezingu-30 ze-MEFV, kunezinto ezine ezihlobene kakhulu nezifo zesifo.
Izimpawu
I-FMF ngokuyinhloko ibangela ukuvuvukala kwesikhumba, izitho zangaphakathi, namalungu. Ukuhlaselwa kubhekene nezinsuku ezintathu kuya kwezinsuku ezintathu zezinwele kanye nomkhuhlane eceleni kwezinye izimo zokuvuvukala, njenge:
- I-Pleurisy , ukuvuvukala kwendwangu yamapayipi evezwe ukuphefumula okubuhlungu
- I-Peritonitis, ukuvuvukala kwesodonga sesisu esisodwa esibonakala ubuhlungu, isisa, umkhuhlane, isisindo sokugcoba, nokuhlanza
- I-Pericarditis , ukuvuvukala kwendwangu yenhliziyo evezwe ubuhlungu obuhlungu obuhlungu bokuhlunguphaza esifubeni
- I-Meningitis , ukuvuvukala kwamagundane okumboza ubuchopho nomgogodla
- I-Arthralgia (ubuhlungu obuhlangene) nesifo samathambo (ukuvuvukala okuhlangene)
- Ukusabalalisa, okuvuthayo okuvuthayo, ngokuvamile ngaphansi kwamadolo
Izimpawu zihamba ngobukhulu kusukela ekunciphiseni kuya ekudambiseni. Ukuvama kokuhlaselwa kungahlukahluka njalo ezinsukwini ezimbalwa kuya eminyakeni embalwa embalwa. Ngesikhathi izimpawu ze-FMF zingakhula zisencane, ngokuvamile ziqala kuma-20s.
Izinkinga
Ngokuya ngobukhulu nokuvama kokuhlaselwa, i-FMF ingabangela izinkinga zempilo yesikhathi eside. Ngisho noma izimpawu zincane, i-FMF ingabangela ukwedlula ngokweqile kwiprotheni ebizwa ngokuthi i-serum amyloid A. Lezi protheyini ezingenakulinganiswa zingancipha kancane kancane futhi zidale umonakalo ezithombeni ezinkulu, ikakhulukazi izinso.
Ukuhluleka kwezinso , empeleni, kuyinkimbinkimbi enkulu ye-FMF. Ngaphambi kokutholakala kwezidakamizwa zokulwa nezidakamizwa, abantu abanesifo se-FMF ezihlobene ne-FMF babenesikhathi sokuphila esiphezulu seminyaka engu-50.
I-Genetics nefa
Njengoba kunoma iyiphi i-autosomal disorder, i-FMF ivela lapho abazali ababili abangenawo lesi sifo banikeza igalelo eliyinqaba kubantwana babo.
Abazali bacatshangwa ngokuthi "abathwali" ngoba ngamunye unekhophi ejwayelekile (evamile) yegijethi kanye nekhophi eyodwa eguquguqukayo (eguquliwe). Kuyinto kuphela lapho umuntu enezifo ezimbili eziphindaphindiwe ezingenziwa yi-FMF.
Uma bobabili abazali bezithwala, ingane inamathuba angu-25 okuzuza ifulegi ezimbili (futhi ithola i-FMF), ithuba elingamaphesenti angu-50 lokuthola isakhi esisodwa esiphezulu nesinye esisodwa (futhi sibe yithwala), futhi amaphesenti angu-25 angathola izakhi zofuzo ezimbili (futhi zihlala zingathinteki).
Ngenxa yokuthi kunezinguquko ezingaphezu kwezingu-30 zokuguquguquka kwe-MEFV, inhlanganisela ehlukene ephindaphindiwe ingaphetha izincazelo ezihlukahlukene kakhulu. Kwezinye izimo, ukuba nezinguquko ezimbili ze-MEFV zingabhekana nezivunguvungu ezinzima ze-FMF. Kwabanye, umuntu angase angabonakali lutho futhi angazi lutho ngalutho kunezinye izikhathi, okungenakuchazwa ikhanda noma umkhuhlane.
Izingozi Zezingozi
Njengoba engavamile njengoba i-FMF ingabantu abaningi, kunamaqembu lapho FMF eyingozi ingaphezulu kakhulu. Ingozi ivinjelwe ikakhulukazi kubantu okuthiwa "abantu abayisisekelo" lapho amaqembu angakwazi ukulandelela izimpande zesifo emuva kwokhokho ovamile. Ngenxa yokungabi nhlobo kokuhlukahluka kwezakhi zofuzo ngaphakathi kwala maqembu (ngokuvamile ngenxa yokushada noma ukuhlukaniswa kwamasiko), izinguquko ezithile ezingavamile ziyadluliselwa kalula kusuka kwesinye isizukulwane kuya kwesinye.
Ukushintshashintsha kokuguqulwa kwe-MEFV kuye kwabuye kwafika esikhathini seBhayibheli lapho abagibeli bamaJuda basendulo beqala ukufuduka ukusuka eningizimu yeYurophu kuya eNyakatho Afrika naseMpumalanga Ephakathi. Phakathi kwamaqembu avame ukuthinteka yi-FMF:
- AmaJuda aseSephardic , inzalo yakhe yaxoshwa eSpain phakathi nekhulu le-15, anethuba eliyisishiyagalombili lokuthwala i-gene ye-MEFV kanye nengalo engama-250 yokuthola lesi sifo.
- Ama-Armenia anethuba eliyisikhombisa ekuthwaleni ukuguqulwa kwe-MEFV kanti omunye ku-500 wokuthuthukisa lesi sifo.
- I-Turkis nabantu base-Arabhu banomphakathi owodwa ku-1,000 kuya kweyodwa ku-2,000 ithuba lokuthola i-FMF.
Ngokuphambene, ama-Ashkenazi amaJuda anethuba elilodwa lokuthwala ukuguqulwa kwe-MEFV kodwa kuphela elilodwa ithuba elingama-73,000 lokuthuthukisa lesi sifo.
Ukuxilongwa
Ukuxilongwa kwe-FMF kuncike kakhulu emlandweni nasendleleni yokuhlaselwa. Isihluthulelo sokuhlonza lesi sifo yisikhathi sokuhlaselwa okungavamile isikhathi esingaphezu kwezinsuku ezintathu.
Ukuhlolwa kwegazi kungalawulwa ukuthi kuhlolwe uhlobo kanye nezinga lokuvuvukala okuhlangenwe nakho. Lokhu kufaka:
- Ukuqeda inani legazi (i-CBC) , lisetshenziselwa ukuthola ukwanda kwamaseli egazi amhlophe avikelayo
- Isilinganiso se-erythrocyte sedimentation (ESR) , esetshenziselwa ukubona ukuvuvukala okungapheli noma okunamandla
- Iprotheyini esebenzayo ye-C (CRP) , esetshenziselwa ukubona ukuvuvukala okunzima
- I-serum haptoglobin yayisetshenziselwa ukubona ukuthi amaseli abomvu abhujiswa njengoba kwenzeka ngezifo ezibulalayo
Ukuhlolwa komchamo nakho kungenziwa ukuze kuhlolwe ukuthi kukhona i- albin eyedlulele emcinini, isibonakaliso sokukhubazeka kwezinso ezingapheli.
Ngokusekelwe kulezi ziphumo, udokotela angalawula ukuhlolwa kofuzo ukuqinisekisa ukuguqulwa kwe-MEFV. Ngaphezu kwalokho, udokotela angase ancoma ukuhlolwa kokucasula lapho isidakamizwa esibizwa ngokuthi i-metaraminol singenza ifomu elibi le-FMF, ngokuvamile lingakapheli amahora angu-48 yomjovo. Umphumela omuhle unganikeza udokotela ngezinga eliphakeme lokuzethemba ekwenzeni ukuxilongwa kwe-FMF.
Ukwelapha
Akukho ukwelashwa kwe-FMF. Ukwelashwa ngokuyinhloko kuqondiswa ekulawulweni kwezibonakaliso ezinzima, ngokuvamile kaningi ngezidakamizwa ezingezona ukuvuvukala ezifana neVoltaren (diclofenac) .
Ukuze unciphise ubunzima noma imvamisa yokuhlaselwa, i-anti-gout drug Colcrys (colchicine) ivame ukushiwo njengendlela yokwelapha okungapheli. Abantu abadala bajwayele ukufakwa tablet ye-0.6-milligram ukuze kuthathwe kabili nsuku zonke.
Ngempumelelo kakhulu ama-Colcrys ekwelapheni i-FMF ukuthi amaphesenti angama-75 alabo abathintekayo abika ukuphindaphinda kwesifo, kuyilapho amaphesenti angu-90 abika ukuthuthukiswa okuphawulekayo. Ngaphezu kwalokho, ukusetshenziswa kwama-Colcrys kubonakala kuncishisa kakhulu ingozi ye-FMF izinkinga, kuhlanganise nokuhluleka kwezinso.
Ama-Colcrys angasetshenziselwa ukuphatha ukuhlasela okunamandla, ngokuvamile okushiwo njengeyodwa, isilinganiso se-0.6-milligram esithathwe ngaso sonke isikhathi ngamahora amane, okulandelwa yi-0.6 milligrams ethathwe amahora amabili ngamanani amabili, futhi iphele ngamapayipi angu-0.6 athathwa amahora angu-12 ngamazinga amane .
Imiphumela emibi ye-Colcrys ifaka phakathi kwe-stomach upset, i- anemia , ne- peripheral neuropathy (i-numbness noma izikhonkwane-nezinaliti ukuzwa kwezandla nezinyawo). Lezi zimpawu ikakhulukazi zigwenywa ngokuthatha amanani amancane. Ukusebenzisa ngokweqile lesi sidakamizwa kungabangela ubuthi obunzima ngezimpawu zesicashu, ukuhlanza, isifo sohudo, nobuhlungu besisu.
Ama-Colcrys ayikwazi ukusetshenziselwa abantu abanezinkinga zokushaya kwezinso.
Izwi elivela
Uma ubhekana nokuxilongwa kahle kwe-Familial fever Mediterranean, kubalulekile ukukhuluma nesazi sezokwelapha ukuqonda ngokugcwele lokho okutholakala khona nokuthola ukwelashwa kwakho.
Uma kubhalwe ama-colcrys, kubalulekile ukuthatha izidakamizwa nsuku zonke njengokuqondiswa, noma ukuweqa noma ukwandisa imvamisa yezenzo. Abantu abahlala banamathele emithwalweni bangalindela ukuthi babe nokuphila okujwayelekile kanye nekhwalithi evamile yokuphila.
Ngisho noma ukwelashwa kuqaliswa ngemuva kokuba isifo sezinso sesithuthukile, ukusetshenziswa kabili kweColcrys kwansuku zonke kungakwandisa isikhathi sokuphila okungaphezu kweminyaka engama-50 ebonwe kubantu abanezifo ezingelashwa.
> Imithombo:
> Fujikura, H. "I-Global epidemiology ye-Familial Mediterranean fever mutations esebenzisa ukulandelana kwabantu abaningi." I-Mol Genet Genomic Med. 2015; 3 (4): 272-82.
> Padeh, S, noJakov, B. "Imfiva ejwayelekile yaseMedithera." I-Curr Opin i-Rheumatol . 2016; 28 (5): 523-29. I-DOI: 10.1097 / BOR.0000000000000315.
> Sonmez, H .; I-Batu, E .; kanye no-Ozen, S. "Imfiva ejwayelekile yaseMedithera: isimo sengqondo samanje." J Inflamm Res. 2016; 9: 13-20.