Izifo ezivuthayo ezibonakalayo zibonwa kumaqela athile
Imfiva yaseMediterranean (FMF) yintlupheko yesifo esingaqhelekanga ebonakala ngokubanzi kwiintlanga ezithile. Ubonakaliswa yimisonto ephindaphindiweyo yomkhuhlane, intlungu ye-appendicitis-njengentlungu yesisu, ukuphuphuma kwamaphaphu, kunye nokuvuvukala, amanxeba abuhlungu.
Njengengxaki engapheliyo, ukuphazamiseka okuphindaphindiweyo, i-FMF inokubangela ukukhubazeka kwexesha elifutshane kwaye ichithe kakubi umgangatho wobomi bomntu.
Ngethamsanqa, izidakamizwa ezintsha, ezichasayo zikhuphe zonke izibonakaliso ezinzulu zesifo.
IFFF yinkinga ye- autosomal disorder , oku kuthetha ukuba ilifa elivela kubazali bomntu. Esi sifo sichaphazela ukutshintshwa kweMfuyo yaseMediterranean (i-MEFV) yesigidi apho kukho ukungafani kwama-30. Ukuze umntu abe nempawu, kufuneka ukuba athathe iikopi ezithatha iinguqu zokuguqulwa kwabazali bobabini. Nangona kunjalo, ukuba neekopi ezimbini azihlali ziguga rhoqo.
Ngelixa lingaqhelekanga kubo bonke abantu, i-FMF ibonakala rhoqo kwii-Jewish Sephardic, amaYuda aseMizrahi, ama-Armenia, ama-Azerbaijan, ama-Arabhu, amaGrike, amaTurkey namaTaliyane.
Indlela Ukugula Kubangelwa Ngayo
Ngokuchasene nesifo sokuzimela esisodwa apho i-immune system ihlasela iiseli zayo, i-FMF isifo esizikhusela ngokuzimela esisisigxina sokuzivikela emzimbeni (ukuphepha komzimba wokuqala) asisebenzi nje ngokufanelekileyo.
Izifo ezitshatyalaliswayo ngokuzenzekelayo zibonakaliswa ukuvuvukala okungavumelekanga, ngokugqithiseleyo ngenxa yesifo esizuze ilifa.
Nge-FMF, ukuguquka kwe-MEFV kusondeleko kukuchaphazela i-chromosome 16 (enye yeendidi ezingama-23 zama-chromosomes ezenza i-DNA yomntu ). I-Chromosome 16 inoxanduva, phakathi kwezinye izinto, ukudala iprotheni ebizwa ngokuthi i-pyrin efunyenwe kwiiseli ezithile zegazi ezimhlophe.
Nangona umsebenzi we-pyrin usengacacile ngokupheleleyo, abaninzi bakholelwa ukuba iprotheni ixanduva lokutshintsha impendulo yomzimba wokuzikhusela komzimba ngokugcina ukuvuvukala.
Kwimihluko engama-30 kunye nokuguqulwa kwe-MEFV, kukho ezine ezihlobene ngokusondeleyo nezifo zesifo.
Iimpawu
I-FMF ngokuyinhloko ibangela ukuvuvukala kwesikhumba, izitho zangaphakathi kunye namalungu. Ezi hlaselo zibonakaliswa yimibhobho yamalanga emithathu ukuya kwintathu yeentloko kunye nomkhuhlane kunye nezinye iimeko ezivuthayo, ezifana ne:
- I-Pleurisy , ukuvuvukala kwimbane yemiphunga ebonakalayo ngokuphefumula okubuhlungu
- I-Peritonitis, ukuvuvukala kwodonga lwesisu esisithatyathwe yintlungu, isisa, umkhuhlane, isicathulo, kunye nokuhlanza
- I-Pericarditis , ukuvuvukala kwimbonakalo yentliziyo eyenziwa ngobuhlungu obuhlungu obuhlungu obuhlungu
- I-Meningitis , ukuvuvukala kweembumba ezigubungela ingqondo kunye nomgudu womthumbu
- Arthralgia (intlungu edibeneyo) kunye ne-arthritis (ukutshatyalaliswa ngokubambisana)
- Ukusabalalisa, ukugqithisa okuvuthayo, ngokuqhelekileyo ngaphantsi kwamadolo
Izibonakaliso zihamba ngobunzima obuvela kumnene ukuya kumonakalo. Ubume bezo hlaselo ziyakwazi ukuhluka ukusuka kwiintsuku ezimbalwa ukuya kwiminyaka embalwa. Nangona iimpawu ze-FMF zingakhula ukususela ekusaneni, ngokuqhelekileyo ziqala kwi-20s.
Iingxaki
Ngokuxhomekeke kubukhulu kunye nokuphindaphindiweyo kokuhlaselwa, i-FMF inokubangela iingxaki zezempilo ezide. Nangona iimpawu zincinci, i-FMF inokubangela ukwanda kweprotheni ebizwa ngokuba yi-serum amyloid A. Ezi proteyini ezingenasifo zinganciphisa kwaye zidale umonakalo kwizitho eziphambili, ikakhulukazi iinjongo.
Ukungaphumeleli kwezintso kukuba, eneneni, ingxaki enkulu kakhulu ye-FMF. Ngaphambi kokufika kwezilwanyana ezichasene neziyobisi, abantu abanezifo zesifo se-FMF ezinxulumene ne-FMF babenomdla wokuhlala iminyaka engama-50.
Genetics nefa
Njengalo naluphi na uhlobo lwe-autosomal disorder, i-FMF ivela xa abazali ababini bengenaso isifo ngasinye banomdla kwi- gene gene .
Abazali bathathwa ngokuba "ngabaphathi" kuba ngamnye unokufumana ikopi enye (evamile) ikopi yomgubo kunye nekopi enye (eguquguqukayo). Kuphela xa umntu enesibini i-genes i-FMF engenzeka.
Ukuba ngaba abazali bobabini bezithuthi, umntwana uneepesenti ezingama-25 zokufumana iimbumba ezimbini (kunye nokufumana i-FMF), ithuba elingamaphesenti angama-50 lokufumana i-gene ephezulu kunye neyodwa (kwaye ibe ngumphathiswa), kunye neepesenti ezingama-25 zokufumana ezimbini zegeni eziphezulu (kwaye zihlala zingakhuselekanga).
Ngenxa yokuba kuneenguqu ezingaphezu kwe-30 zinguqulelo lwe-MEFV, ukudibanisa okuhlukileyo okungafaniyo kunokuphelisa intsingiselo yezinto ezahlukeneyo. Kwezinye iimeko, ukuguquguquka kwe-MEFV ezimbini kunokunikela kwiimeko ezinzima ze-FMF. Kwabanye, umntu unokungabikho mpawu ezingenasifo kwaye akanakufumana nto ngaphezu kwexesha eliqhelekileyo, elingenakuchazwa intloko okanye umkhuhlane.
Izinto zobungozi
Njengenqabile njengeFMF kubantu bonke, kukho amaqela apho i-FMF yengozi iphezulu kakhulu. Umngcipheko ukhululeke kakhulu ekuthiwa "ngabahlali abasunguli" apho amaqela angakwazi ukulandelela iingcambu zesifo esiya kwisekho. Ngenxa yokungabikho kokuhlukahluka kofuzo phakathi kwala maqela (ngokuphindaphindiweyo ngenxa yokutshata okanye ukwahlukana kwenkcubeko), ukuguquka okuthile okungaqhelekanga kuyaphuma ngokulula ukusuka kwisizukulwana esinye kuya kwesinye.
Ukutshintshwa kwenguqu ye-MEFV kulandelwe emva kwexesha leBhayibhile xa abafudusi bamaYuda basendulo beqala ukufuduka ukusuka eYurophu ukuya kwiNyakatho Afrika nakumaMiddle East. Phakathi kwamaqela amaninzi achaphazelekayo yiFFF:
- AmaYuda angamaSefrdi , inzala yakhe yaxoshwa eSpeyin ngeli xesha le-15 leminyaka, sinalo ithuba lesibhozo lokuthwala i-MEFV gene kunye nelithuba eli-250 lokufumana eso sifo.
- AmaArmenian anelithuba eliyisixhenxe ekuthwaleni ukuguqulwa kwe-MEFV kunye nenye ye-500 yokuphuhlisa eso sifo.
- I-turkis kunye nabantu base-Arabhu banomlinganiselo phakathi kweyesi- 1 ukuya kwenye kwi-2,000 ithuba lokufumana i-FMF.
Ngokwahlukileyo, amaYuda ase-Ashkenazi anelithuba ezintlanu zokuthwala ukuguquka kwe-MEFV kodwa kuphela kwithuba elingama-73,000 lokuphuhlisa eso sifo.
Ukuxilongwa
Ukuxilongwa kwe-FMF kuncike kakhulu kwimbali nakumzekelo wokuhlaselwa. Isibalulekileyo sokuchongwa kwesi sifo ubude bezinto ezihlawulelwayo ezinqabileyo kangangeentsuku ezintathu.
Iimvavanyo zegazi ziyalelwe ukuba zihlolisise uhlobo kunye nenqanaba lokuvuvukala. Ezi ziquka:
- Ukugqiba inani legazi (CBC) , elisetyenziselwa ukufumana ukwanda kweeseli zegazi ezimhlophe ezikhuselayo
- Isantya se-erythrocyte sedimentation (ESR) , esetyenziselwa ukufumana ukuvuvukala okungapheliyo
- Iprotheyini esebenzayo yeC (i-CRP) , isetyenziswe ukufumanisa ukuvuvukala okukhulu
- I-serum haptoglobin yayisetyenziselwa ukubona ukuba iiselom zegazi ezibomvu zitshabalaliswa njengoko zenzeke ngezifo ezithandabuzayo
Uvavanyo lomchamo lunokwenziwa kwakhona ukuhlola ukuba kukho i- albin engaphezu kweminye umchamo, ukubonakalisa ukukhubazeka kwesifo sengqondo.
Ngokusekelwe kwezi ziphumo, ugqirha unokuyalela uvavanyo lwezofuzo ukuqinisekisa ukuguqulwa kwe-MEFV. Ukongezelela, ugqirha unokuncoma ukuvavanywa kwesohlwayo apho isilwanyana esibizwa ngokuba yi-metaraminol singenza ifomu elibi kakhulu le-FMF, ngokuqhelekileyo kungakapheli iiyure ezingama-48 zomjovo. Isiphumo esihle siza kunika ugqirha ngezinga eliphezulu lokuzithemba ekwenzeni ukuxilongwa kwe-FMF.
Unyango
Akukho nonyango yeFFF. Ulwaphulo lujoliswe ngokukodwa ekulawuleni impawu ezinzima, ngokuqhelekileyo kunye nezidakamizwa ezingabhubhisiyo ezinjenge- Voltaren (diclofenac) .
Ukunciphisa ubunzima okanye imvama yokuhlaselwa, i-anti-gout drug Colcrys (colchicine) iqheleke ngokuqhelekileyo njengendlela yokwelashwa okungapheliyo. Abantu abadala baqhotyoshelwe i-0.6-milligram tablet ukuba kuthathwe kabini imihla ngemihla.
Ngokusebenzayo iColcrys ekuphatheni i-FMF ukuba i-75 ekhulwini yabasweleyo ingabikho kwakhona ukuphindaphinda kwezifo, ngelixa iipesenti ezingama-90 zibika ukuphuculwa okuphawulekayo. Ngaphezu koko, ukusetyenziswa kweColcrys kubonakala kukunciphisa kakhulu ingozi ye-FMF ezinzima, kuquka ukungaphumeleli kwezintso.
Iikholeji zingasetyenziselwa ukuphathwa ngokukhawuleza, ngokuqhelekileyo kubekwe enye, i-dola eyi-0.6-milligram ithathwa nganye ngeeyure ezine, ilandelwa yi-0.6 milligrams ithathwa iiyure ezimbini kwiiyure ezimbini, kwaye iphela ngee-0.6 milligrams ezithathwa rhoqo ngeeyure eziyi-12 ezine .
Imiphumo emibi ye-Colcrys ibandakanya ukuguqulwa kwesisu, i- anemia , kunye ne- peripheral neuropathy (i-numbness okanye izikhonkwane-kunye neenaliti ukuvakalelwa kwezandla kunye neenyawo). Ezi zimpawu ziphephe ngokukodwa ngokuthatha amanani amancinci. Ukusetyenziswa ngokugqithisileyo kwesilwanyana kunokubangela ukutyhefuza okunzulu kunye neempawu zesantya, ukuhlanza, isifo sohudo kunye nesisu esiswini.
Ama-Colcrys akakwazi ukusetyenziswa kubantu abaneentliziyo ezingasebenzi.
ILizwi
Ukuba ubhekene nokuxilongwa ngokufanelekileyo kwe-Familial fever Mediterranean, kubalulekile ukuba uthethe ngesifo seengcali ukuqonda ngokucacileyo oko kuthethwa yi-diagnostic kunye noko ukhetho lwakho lweyonyango.
Ukuba kukho iColcrys echanekileyo, kubalulekile ukuthatha izidakamizwa imihla ngemihla njengoko iyalathwayo, okanye ukungaphuki okanye ukunyuka kwamaxesha amaninzi. Abantu abahlala behambelana nokunyanga banokulindela ukuba babe nobomi obuqhelekileyo kunye nomgangatho oqhelekileyo wobomi.
Nangona unyango luqaliswa emva kokuba isifo sesifo siphuhlise, ukusetyenziswa kabini kwe-Colcrys kunokwandisa ukulinda komntu ngaphaya kweminyaka engama-50 kubonwa ngabantu abanezifo ezingalawulekiyo.
> Imithombo:
> Fujikura, H. "I-epidemiology yehlabathi jikelele yeentsholongwane zentsholongwane yaseMedithera esebenzisa ukulandelana kwabantu." UMol Genet Genomic Med. 2015; 3 (4): 272-82.
> Padeh, S, noYakov, B. "Imfiva yaseMediterranean." Curr Opin Rheumatol . 2016; 28 (5): 523-29. INGXELO: 10.1097 / BOR.0000000000000315.
> Sonmez, H .; Batu, E .; kunye no-Ozen, S. "Imfiva yaseMedithera eyaziwayo: ukujonga kwangoku." J Inflamm Res. 2016; 9: 13-20.