Ingabe ingane yakho ayiphefumuli kahle? Ake sifunde nge-Congenital Central Hypoventilation Syndrome (CCHS)!

Ngezinye izikhathi, abazali bayakhathazeka kancane uma bebona izinguquko ezincane endleleni izingane zabo eziphefumula ngayo, akunjalo? Kuvamile ukuzizwa wesaba kancane, ikakhulukazi uma ingane yakho ibonakala ifutha noma iphefumula kakhulu ngenkathi ilele. Namuhla, sizokhuluma ngesimo esingavamile okufanele wonke umuntu asiqaphele. Odokotela babiza lesi sigameko ngokuthi 'Congenital Central Hypoventilation Syndrome', noma sizosibiza ngokuthi '(CCHS)' ngamafuphi.

Kuyini i-CCHS? Ake sikuqonde kahle.

Kalula nje, `(CCHS)` yisimo esingavamile esiba khona lapho kuzalwa futhi sithinta wonke umzimba. Into eyinhloko ukuthi umzimba awuphefumuli ngokwanele, noma izinga lokuphefumula liyehla. Lesi simo sibi kakhulu ngenkathi ulele. Odokotela basibiza ngokuthi `(Hypoventilation)` (hypoventilation). Cabanga nje, lapho sivame ukuphefumula, amaphaphu ethu ayafutha futhi anciphe ukuze athathe umoya-mpilo futhi akhiphe i-carbon dioxide. Kodwa kumuntu one-`(CCHS)`, le nqubo yokuphefumula, ikakhulukazi ukuphefumula okulawulwa ngumzimba ngokwemvelo, akwenzeki kahle. Ngenxa yalokho, izinga lomoya-mpilo egazini liyehla futhi izinga le-carbon dioxide liyakhuphuka ngokungadingekile. Lokhu kungathinta izinhlelo eziningi emzimbeni.

Lesi simo `(CCHS)` sithinta uhlelo lwezinzwa oluzimele lomzimba wethu `(Autonomic Nervous System)` . Manje ungase uzibuze ukuthi luyini lolu hlelo lwezinzwa oluzimele. Cabanga nje, lapho sishayela imoto, senza izinto ezifana nokushintsha `igiya` kanye `nebhuleki` ngamabomu. Kodwa ezinye izinto emzimbeni wethu zenzeka ngokuzenzakalelayo, futhi asicabangi ngazo. Njengokuphefumula (amaphaphu ethu asebenza ngisho nalapho silele!), ukugaya ukudla, ukushaya inhliziyo yethu, ukulawula izinga lokushisa lomzimba wethu, ukujuluka, kanye nokuqina kwe-iris lapho ukukhanya kushaya amehlo ethu. Konke lokhu kulawulwa uhlelo lwezinzwa oluzimele. Uma sine `(CCHS)`, lezi zinqubo ezizenzakalelayo nezibalulekile ziyathinteka. Ngakho-ke, ngaphezu kokuphefumula, izinkinga zingavela nasezintweni ezifana nalezi:

• Ukulawula umfutho wegazi.
• Umsebenzi wamathumbu.
• Isilinganiso senhliziyo.
• Ukulawula izinga lokushisa lomzimba.

Lesi simo sibizwa ngokuthi ``(CCHS)`` ngamanye amagama amaningana. Udokotela wakho angase asebenzise elinye lala magama, ngakho-ke kuwumqondo omuhle ukuwaqaphela:

• "Ukuphefumula Okuphakathi KwaseCongenital"
• "Ukwehluleka Kokuzalwa Kokulawulwa Kokuzimela"
• "Ukwehluleka Kwasekuzalweni Kokuphefumula"
• 'Isifo sikaHaddad'
• Ngezinye izikhathi ibizwa nangokuthi 'i-Ondine Syndrome', 'i-Ondine-Hirschsprung Disease', noma 'i-Ondine's Curse'.

Ivame kangakanani i-CCHS?

Empeleni, i-CCHS iyisimo esingavamile kakhulu.Cabanga nje, inani elincane kakhulu lamacala, cishe angu-1000 kuya ku-1200, atholakale emhlabeni wonke. Kodwa-ke, ososayensi bakholelwa ukuthi ngezinye izikhathi, ngenxa yezimo ezingatholakali `(CCHS)`, kukhona ukusola ukuthi okunye ukufa kwezinsana ngokuzumayo, okungukuthi, `Isifo Sokufa Kwezinsana Okuzumayo (SIDS),` kungase kwenzeke. Okusho ukuthi, noma ngabe kungaba `(SIDS)`, imbangela eyisisekelo ingaba `(CCHS)`. Ngakho-ke, kubaluleke kakhulu ukuqaphela lokhu.

Ziyini izimpawu ze-CCHS? Uzibona kanjani?

Izimpawu zokuqala ze-CCHS zivame ukuvela ekuzalweni noma ezinyangeni ezimbalwa zokuqala zokuphila. Lezi yizimpawu eziyinhloko ezingabonakala:

• Ukushintsha kombala wezindebe noma isikhumba (i-Cyanosis): Lokhu kufana nokuntuleka komoya-mpilo. Lokhu kubonakala kakhulu lapho ingane ilele.
• Ukuphefumula okungajwayelekile ngesikhathi sokulala (Hypoventilation): Ukuphefumula kungase kuzwakale kuncane kakhulu noma kushesha. Ngezinye izikhathi kungase kubonakale sengathi ukuphefumula kuyama isikhashana.

Okubalulekile: Uma ubona lezi zimpawu, kufanele ubonane nodokotela ngokushesha.

Kodwa ngezinye izikhathi, uma isimo singesibi kangako, lezi zimpawu zingase zivele kamuva ekuphileni. Noma, kungase kuvele ezinye izimpawu. Hlola ukuthi ingane yakho inayo yini yalezi:

• Ukukhubazeka kwamehlo: Isibonelo, indlela i -iris esabela ngayo ekukhanyeni nomsindo ingase inciphe, amehlo angase ahlangane (strabismus), noma indlela obona ngayo kude ingase ishintshe (ukuqonda okujulile okushintshile).
• Ubuhlungu obunciphile: Ngisho nokulimala okuncane kungaba buhlungu kancane.
• Ukuntuleka kwama-hormone okukhula: Ukukhula komntwana kungase kube kancane kunezinye izingane.
• Ukujuluka nje kakhulu ngaphandle kwesizathu.
• Izinkinga zesisu (GI): Ukuvuvukala kwesisu, ukuqunjelwa njalo, futhi ngezinye izikhathi ukuvaleka kwamathumbu amancane noma ukuvaleka kwamathumbu amakhulu. Isifo sikaHirschsprung (CCHS) singabonakala naku-CCHS.
• Izinga Lokushisa Lomzimba Eliphansi: Umzimba ungase uzizwe ubanda ngaso sonke isikhathi.
• Izinkinga zesimiso sezinzwa: Izinto ezifana nokukhubazeka kokufunda.
• Ubunzima bokulawula izinga lokushaya kwenhliziyo kanye nomfutho wegazi.

Kungani le CCHS yenzeka? Iyini imbangela?

Kulungile, manje ake sibone ukuthi kungani lesi simo esibizwa ngokuthi `(CCHS)` senzeka. Isizathu esiyinhloko salokhu ukuguquka kwesinye sezakhi zofuzo zethu. Lesi sakhi sofuzo sibizwa ngokuthi `PHOX2B` (Fox-2-B) gene.Le gene ethi 'PHOX2B' ibaluleke kakhulu ekukhiqizeni iphrotheni esiza amangqamuzana ezinzwa, ikakhulukazi lawo maseli esimiso sezinzwa esizimele esikhulume ngawo, akhule kahle lapho ekhula esibelethweni njengomntwana osanda kuzalwa.

Kubantu abaningi abane-CCHS, lokhu kuguqulwa kwezakhi zofuzo kuyinguquko entsha, eyenzeka ngezikhathi ezithile. Lokhu kusho ukuthi ukuguqulwa akuzuzwa njengefa kumama noma kuyise, kodwa kuyinguquko entsha emzimbeni wengane. Kodwa-ke, ezimweni ezimbalwa kakhulu, kungadluliselwa kusuka esizukulwaneni kuya kwesinye. Lokhu kusho ukuthi omunye wabazali unalokhu kuguqulwa kwezakhi zofuzo futhi ingane kungenzeka ukuthi izuze njengefa.

Wazi kanjani ukuthi une-CCHS? (Ukuxilongwa)

Indlela ewukuphela kwayo necacile yokuqinisekisa ukuthi une-CCHS ukwenza ukuhlolwa kofuzo ukuze kubonakale ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-PHOX2B. Lena yindlela kuphela odokotela abangaqiniseka ngayo ngokuphelele ukuthi unalesi simo noma cha.

Kodwa-ke, odokotela bangenza ezinye izivivinyo eziningana ukuze baqonde imiphumela yalesi simo emzimbeni kanye nokuthola imbangela yezimpawu. Isibonelo:

• Ukuhlolwa Kwegazi: Hlola izinto ezifana namazinga e-oxygen kanye ne-carbon dioxide emzimbeni.
• Uma unezimpawu zezinkinga zokugaya ukudla, zihlole nge-colonoscopy , mhlawumbe nge-biopsy .
• I-'Echocardiogram' yokuhlola ukusebenza kwenhliziyo.
• Ukuhlolwa kwezithombe njenge-X-ray, i-CT scan, noma i-MRI ukuze kubhekwe ngaphakathi esifubeni nasesiswini ukuze kubonakale ukuthi kukhona yini okuvimbekile.
• Ukuhlolwa kwamehlo ukuhlola isimo samehlo.
• Izifundo Zokulala : Lokhu kuwukuhlolwa okubaluleke kakhulu. Kulokhu, ingane ilaliswa ekamelweni elikhethekile esibhedlela futhi izinto ezahlukahlukene ezifana nezindlela zokuphefumula, ukushaya kwenhliziyo, kanye namazinga omoya-mpilo kubhekwa ngemishini.

Ingabe i-CCHS ingalapheka ngokuphelele?

Umbuzo abantu abaningi abawubuzayo nabawucabangayo engqondweni yabo ukuthi ngabe `(CCHS)` ingelapheka ngokuphelele yini. Uma ngikhuluma iqiniso, okwamanje akukho ukwelashwa okuqondile kwe-`CCHS`. Kuyisimo esihlala isikhathi eside. Kodwa, ungakhathazeki. Ukwelashwa kuhloselwe ukulawula izimpawu, ukunciphisa izinkinga ezingaba khona, nokusiza isiguli siphile ngokuphepha, ngokunethezeka, futhi kahle ngangokunokwenzeka.

Iyiphi indlela yokwelapha umuntu one-CCHS?

Abantu abaningi abane-CCHS badinga ukwesekwa kokuphefumula impilo yabo yonke.Kuyadingeka. Lokhu kubizwa ngokuthi i-'Ventilator'. Abanye abantu bayayidinga usuku lonke, ngaso sonke isikhathi. Kodwa abanye bayidinga kuphela uma belele. Lokho okwenziwa yi-'(Ventilator)' ukusiza umzimba ukuthi uphefumule ngesigqi esithile, njengoba kudingeka. Lokhu kungagcina izinga lomoya-mpilo egazini lilungile futhi kumise izinga le-carbon dioxide ukuthi lingakhuli.

Ngaphezu kwalokho, kunezinye izindlela zokwelapha ezisekelayo. Lezi zindlela zokwelapha ziyahlukahluka kuye ngezimpawu zomuntu ngamunye:

• Izinkinga zokubona zingalungiswa ngezibuko, ama-contact lens, noma ngisho nokuhlinzwa. Lokhu kungasiza futhi ekuvikeleni amehlo ekukhanyeni okweqile.
• Ukwelashwa Nge-Growth Hormone (GHT) kokukhula okubambezelekile.
• Imithi yokuqeda izimpawu zesistimu yokugaya ukudla (isib. `Ukubuyela emuva`, `Ukuqunjelwa`).
• Lawula umfutho wegazi kanye nokushaya kwenhliziyo ngemithi noma ezinye izindlela zezokwelapha .
• Ukuhlolwa kokuhlolwa okuvamile kwenziwa ukuze kutholakale ezinye izinkinga zempilo ezihlobene kusenesikhathi.

Le nqubo yokwelapha ingadinga ukwesekwa kochwepheshe abahlukene . Cabanga nje, kukhona uchwepheshe ofanele izinkinga zomuntu ngamunye. Kubaluleke kakhulu ukuthi ochwepheshe abahlukene abanjengalaba bahlangane futhi baphathane njengeqembu. Ngoba `(CCHS)` akuyona into ethinta ingxenye eyodwa yomzimba kuphela. Ngakho-ke lapho umuntu ngamunye esebenzisa ubuchwepheshe bakhe ukuxazulula izinkinga ezahlukene zengane, ukunakekelwa ingane ekutholayo kuphelele. Isibonelo:

• Odokotela bezifo zenhliziyo.
• Izinkinga zendlebe, impumulo nomphimbo zelashwa ochwepheshe be-ENT .
• Odokotela be-endocrinologists bangochwepheshe ezindlaleni ze-endocrine zezinkinga ezihlobene nama-hormone.
• Odokotela bezifo zesisu bangochwepheshe ezifweni zesisu ezinkingeni zesimiso sokugaya ukudla.
• Odokotela bezinzwa bangochwepheshe emiphumeleni yobuchopho nokufunda.
• Odokotela bamehlo belapha izimpawu ezihlobene namehlo.
• Odokotela bokunakekelwa okuyisisekelo (njengodokotela bezingane).
• Odokotela bezifo zamaphaphu bangochwepheshe ezinkingeni zokuphefumula .
• Izazi Zezifo Zenkulumo Nolimi.
• Abasebenzi Bezenhlalakahle (banikeza umndeni ukwesekwa kwengqondo nokwezenhlalo okudingekayo).

Ingabe ikhona indlela yokuvimbela i-CCHS?

Ngokuvamile uma sikhuluma ngesifo, sikhuluma nangendlela yokuzivikela kuso. Kodwa-ke, endabeni ye-`(CCHS)`, akukho ndlela eqinisekisiwe etholakele yokuvimbela ukwenzeka kwaso.Ngenxa yokuthi ibangelwa kakhulu imbangela yofuzo (ukuguquka kwezakhi zofuzo ze-'PHOX2B'), kunzima ukuyivimbela. Kodwa-ke, uma othile emndenini ene-'(CCHS)', kungumqondo omuhle ukukhuluma nodokotela mayelana nokwelulekwa kwezakhi zofuzo kanye nokuhlolwa kwabanye.

Impilo izoba njani nge-CCHS? Izinto ezibalulekile okufanele uzazi

Isikhathi sokuphila kanye nokukhubazeka okungenzeka komuntu ophila ne-CCHS kungahluka kakhulu. Kuncike ezicini ezifana nobunzima besifo, isikhathi esithathayo ukuqala ukwelashwa, kanye nempumelelo yokwelashwa .

Kodwa-ke, uma betholakala kusenesikhathi futhi bephathwa kahle futhi njalo , abantu abane-CCHS encane bangaphila impilo ephumelelayo, ekhiqizayo, nejabulisayo. Bangaya esikoleni, badlale, ngisho nokusebenza lapho bekhula. Kodwa-ke, uma lesi sifo sibi kakhulu, noma uma ukwelashwa kunganikezwanga kahle noma kubambezeleka, ukukhubazeka okukhulu, izinkinga zempilo, kanye nobude besikhathi sokuphila obufushane kungenzeka. Ngakho-ke , ukuxilongwa ngesikhathi esifanele kanye nokwelashwa njalo kubaluleke kakhulu.

Lokhu kubaluleke kakhulu ukukhumbula: Abantu abane-CCHS banamathuba amaningi okuthola izinhlobo ezithile zezimila zesimiso sezinzwa. Ngakho-ke, kubalulekile ukuhlolwa njalo ngalezi zinhlobo zezimila. Uma zitholakala kusenesikhathi, kuba lula ukuzelapha. Kufanele uqaphele kakhulu ngalezi zinhlobo zezimila:

• I-Neuroblastoma
• I-Ganglioneuroblastoma
• `I-Ganglioneuroma`

Ngakho-ke, ungakhohlwa ukuqhubeka nokuhlolwa njengoba kunconywe udokotela.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho mayelana ne-CCHS

Uma wena noma othile emndenini wakho etholakala ene-CCHS, qiniseka ukuthi ubuza udokotela wakho le mibuzo. Lokhu kuzokusiza ukuthi uqonde isimo futhi uhlele izinyathelo zakho ezilandelayo:

• "Ingabe i-`(CCHS)' yengane yami/yami inzima kangakanani?"
• "Yiziphi izinhlelo zomzimba (isib. ukuphefumula, inhliziyo, amathumbu) ezithinteka yisimo sengane yami/yami `(CCHS)`?"
• "Hlobo luni lochwepheshe engizodinga/esizodinga ukubabona? Kufanele ngibabone kangaki?"
• "Ingabe mina/ingane yami ngidinga i-'Ventilator'? Uma kunjalo, kufanele ngiyisebenzise ngaso sonke isikhathi, noma uma ngilele kuphela?"
• "Kufanele ngihlolwe kangaki ukuze ngiqaphe amehlo ami, inhliziyo, amaphaphu, uhlelo lokugaya ukudla, kanye nezinye izinhlelo zomzimba?"
• "Kudingeka ngihlole kangaki lawo mathumba engikhulume ngawo ekuqaleni?"
• "Ingabe kuwumqondo omuhle ukuthi wonke umndeni wami (isib. izingane zakwethu, abazali) bahlolwe izakhi zofuzo?"

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Nakuba i-CCHS iyisimo esesabekayo futhi esingavamile, ingalawulwa uma unolwazi olufanele futhi uqale ukwelashwa ngesikhathi. Into eyinhloko ukufuna iseluleko sezokwelapha ngokushesha nje lapho ubona izimpawu, ikakhulukazi uma ubona noma yini engavamile endleleni yokuphefumula yengane yakho, njenge-cyanosis. Into ebaluleke kakhulu ukungesabi, kodwa ukwenza ngokushesha.

Ukuphila nalesi simo kungaba yinselele emindenini, kuyiqiniso lokho. Kodwa khumbula, awuwedwa. Odokotela, abahlengikazi, abelaphi, kanye nabanye ochwepheshe bezempilo bakhona ukukusiza nokukuqondisa wena nengane yakho. Ngokuphathwa kahle kwezokwelapha, ukunakekelwa komndeni ngothando, kanye nesimo sengqondo esihle, ingane ene-CCHS ingaphila impilo ejabulisayo, evamile ngangokunokwenzeka. Ungesabi ukubuza imibuzo, ukufuna ulwazi, nokunikeza ingane yakho okungcono kakhulu kuyo.

I- CCHS, i-Congenital Central Hypoventilation Syndrome, i-congenital respiratory distress syndrome, isimiso sezinzwa esizimele, i-PHOX2B gene, ukwesekwa kokuphefumula, impilo yezinsana, i-cyanosis, ukuhlolwa kwezakhi zofuzo