Eyaziwa nangokuthi: i- PCD, i-PCD ene-situs solitus & immotile cilia syndrome
I-ciliary dyskinesia eyinhloko (i-PCD) iyisifo esingavamile se-genetic esithinta cishe abantu abangu-16 000. I-Cilia yizinhlaka ezinjengezinwele ezibeka izingxenye ezithile zomzimba njenge- tube eustachian kanye ne-trachea. I-Cilia isebenza ngokubaluleka kokuhamba kwe-mucous nezinye izinto zakwamanye amazwe ngaphandle kwezitho okumelwe zisuswe emzimbeni.
Ku-PCD, i-cilia ayisasebenzi ngendlela evamile eyenza ukubambezeleka ekukhipheni ama-debris okwandisa ingozi yokutheleleka. Ku-PCD izitho zesisu nesifuba zisendaweni yazo evamile.
Kukhona futhi ama-subtypes we-PCD njenge-Kartagener's syndrome (i-inverus inteusus totalis), ene-PCD, kodwa futhi ibonisa izici zokuba nezinhlaka ezihlangothini oluhlukile lomzimba. Isibonelo esikhundleni sokuthi uhlangothi luhlangothini lwesobunxele lomzimba, luhlangothini lwesokudla lomzimba. Ezinye izitho ezivame ukuthinteka yi-Kartagener's syndrome zihlanganisa: inhliziyo, isibindi namathumbu. I-Kartagener's syndrome iyinto engavamile nakakhulu ngezibalo zabantu abangaba ngu-1 kwabangu-32,000.
Izingozi Zengozi ZeDyskinesia Eyisisekelo Eyisisekelo
I-ciliary primary dyskinesia ayiyona isifo esithathelwanayo. Ungathola i-PCD kuphela uma uzalwa uma bobabili abazali bakho bane-disorder noma abathwali be-disorder. Kuvame kakhulu ukuthi ube ngumthwali we-PCD ngoba inephethini ye- autosomal yefa .
Lokhu kusho ukuthi uma umzali oyedwa ekunika igesi elibhekele i-PCD kodwa omunye umzali wakho akakunikeli igesi, ngeke uzuze i-PCD kodwa uzokwazi ukuthi uyithwala.
Kunezinkinga eziningana zezakhi zofuzo ezingabangela i-PCD kodwa awukwazi ukuthola okwamanje izinsimbi ze-primary ciliary dyskinesia.
Noma isiphi isakhi esithinta amaprotheni we-cilia singase sikholele ku-PCD. Ukuguqulwa kwamaprotheni ahlobene ne-cilia kungancipha, ukwandise, noma kumise ukunyakaza okunjenge-wave okuhambisana nomsebenzi ovamile we-ciliary. Izinguquko kumsebenzi we-cilia zingabangela izimpawu ezilandelayo ezihlobene ne-primary ciliary dyskinesia:
- ukuxubana kwamasalonda angapheli, izifo ze- rhinitis , noma izifo ze-sinus
- i-otitis media engapheliyo ( izifo zendlebe ) noma ukulahlekelwa kwezindlebe
- ukungabikho
- Izifo eziphefumula njalo ezifana ne-pneumonia
- ukukhwehlela
- i-atelectasis (amaphaphu aphelile)
Ukubona i-Didikinesia yaseCary Primary
Udokotela wakho angeke afune ngokuzenzakalelayo i-cysary dyskinesia eyinhloko, njengoba izimpawu zingase zihlobene nezinkinga eziningi ezingabonakala kuzo kokubili izingane kanye nabantu abadala. Uma i-inversus inteksi totis (izitho ezitholakala ngokungavamile ezinhlangothini eziphambene zomzimba) ziphawulwa, ukutholakala kalula kungaba lula. Kodwa-ke, uma ukubeka isitho kuvamile, udokotela wakho kuzodingeka enze izivivinyo ezengeziwe. Ukuvivinya i-genetic ingenye yezindlela eziyinhloko ezisetshenziselwa ukuxilonga i-PCD, kodwa kunezindlela ezimbili ezivame ukusetshenziswa ukuhlola izinkinga nge-cilia yakho: i- electron & microscopy yevidiyo . Umehluko phakathi kwalezi zivivinyo ezimbili uhlobo lwama-microscope asetshenzisiwe.
Zombili izivivinyo zidinga udokotela wakho ukuba athathe isampula kusuka emgodini wakho wezintambo noma e-airway ukuze uhlaziye ngaphansi kwe-microscope.
I-radiation ehlanganiswe nezinhlayiya ezincane, eyaziwa nangokuthi izinhlayiya ze-radiolabeled , zingagonywa. Udokotela wakho uzobe esilinganisa ukuthi zingaki izinhlayiya ezibuya ngesikhathi sokuphuma. Uma izinhlayiya ezingaphansi kunalokho ezilindelekile, zingabhekwa izinkinga ze-ciliary. Udokotela wakho angase abe nawe ukufaka i-nitric oxide . Lokhu kuvivinywa akuqondakali kahle, kepha uma uphumelela ngaphansi kwemiphumela evamile, i-PCD ingase ibe nokusola.
Ukusebenza ngokujwayelekile kwe-cilia kuyadingeka nokuba kutholakale uhlelo lokuzala okunempilo.
Ngenxa yezinga lokungasebenzi kahle kwe-cilia emkhakheni wokuzala, ukuhlaziywa kwesilisa nakho kungasiza ekuhloleni i-PCD kubantu abadala. Isampula yesinambuzane sihlaziywa ngaphansi kwe-microscope.
I-standard-yegolide yokuhlola i-electron microscopy. Lokhu ngokucacile kungachaza ukuthi noma cha yabo kukhona okungahleliwe okusebenzayo nokusebenzayo ne-cilia. I- ENT yakho ingathatha isampula kusuka ekhaleni lakho noma emoyeni wakho ukuze uthole isampula salolu vivinyo. Ukuvivinya nge-genetic kungatholakala, kodwa kuphela amaphesenti angama-60 amacala e-PCD athola ikhodi ye-genetic ekhonjisiwe.
Ukwelashwa Kwe-Primary Ciliary Dyskinesia
Ayikho ikhambi ye-primary ciliary dyskinesia. Ukwelashwa kuhlobene nokuphatha izimpawu nokuzama ukuvimbela ukutheleleka. Ukuze usize ukuvimbela izifo zendlebe, i-ENT yakho ingase ibekwe amashubhu endlebe ukuze uvumele izindlebe zakho zingene emgodini wakho wezindlebe, ngoba ukuthutha nge-tube eustachian kunzima. Ezinye izindlela zokwelashwa zingase zibandakanye ama-nashes amaningi asetshenziswa njalo kanye nezipulisi zamanqina eziphikisayo.
Ukwelashwa kwezinkinga zokuphefumula kugxile ekuthuthukiseni ikhono lakho lokukhwehlela. Njengoba i-cilia ekhubazekile iyanciphisa ikhono lakho lokuqeda ukuqhuma emkhathini, ukukhwehlela kusiza ukusiza umzimba wakho ekuhambiseni i-mucus ngaphandle kwe-airway yakho. Ukuze ufeze lokhu, ungabekwa:
- I-poet physiotherapy - amadivaysi omshini noma amasu ngesandla ukugqugquzela ukukhwehlela
- Ukuzivocavoca - i-cardio yokuzivocavoca kukubangela ukuba uphefumle kakhulu okusiza ukuhlanganisa imfihlo emgwaqweni
- Imithi - i- bronchodilators kanye ne-anti-inflammatories kusiza ukunciphisa ukuvuvukala nokuvula imimoya yomoya ukuze ikusize ukhwehlela noma uhambise noma yikuphi ukukhwabanisa.
Ezimweni ezimbi kunazo zonke, i-PCD ethinta amaphaphu ingaholela ku-bronchiectasis. Amacala amakhulu ngeke akwazi ukuphathwa futhi ukufakelwa kwamaphaphu kuyodingeka. Ukufakelwa kwe-Lung kuzokwelapha i-PCD emaphashini. Kodwa-ke uzodingeka ubhekane nakho konke okudingekayo kokwelapha emva kokufakelwa kanye nemingcele. Lokhu kuyindlela enkulu yokwelapha uma kunesidingo, kodwa akuyona indlela enhle yokuqala yokuphatha i-PCD.
Imithombo:
Kliegman, Stanton, St Geme & Schor. (2015). UNelson Bookbook of Pediatrics. 20th ed. I-Dyskinesia Ciliary Primary (Immotile Cilia Syndrome Kartagener Syndrome). https://www.clinicalkey.com/#!/ (Okubhaliselwe Kudingeka).
I-National Heart, Lung, ne-Blood Institute. (2011). Iyiphi i-Ciliary Dyskinesia eyinhloko. https://www.nhlbi.nih.gov/health/health-topics/topics/pcd.
Inhlangano Kazwelonke Yezinkinga Ezivamile. (2015). I-Dyskinesia yeCiliary Primary. http://rarediseases.org/rare-diseases/primary-ciliary-dyskinesia/