Ingaba umntwana wakho akaphefumli kakuhle? Masifunde ngeCongenital Central Hypoventilation Syndrome (CCHS)!

Ngamanye amaxesha, abazali bayakhathazeka kancinci xa bebona utshintsho oluncinci kwindlela abantwana babo abaphefumla ngayo, akunjalo? Kuqhelekile ukuziva usoyika kancinci, ingakumbi ukuba umntwana wakho ubonakala efuthanisekile okanye ephefumla kakhulu ngelixa elele. Namhlanje, siza kuthetha ngemeko engaqhelekanga ekufuneka wonke umntu ayiqaphele. Oogqirha bayibiza le `Congenital Central Hypoventilation Syndrome`, okanye siza kuyibiza `(CCHS)` ngamafutshane.

Yintoni i-CCHS? Masiyiqonde kakuhle.

Ngamafutshane, `(CCHS)` sisifo esingaqhelekanga esibakho xa umntu ezalwa kwaye sichaphazela wonke umzimba. Eyona nto iphambili kukuba umzimba awuphefumli nzulu ngokwaneleyo, okanye izinga lokuphefumla liyehla. Le meko imbi kakhulu xa ulele. Oogqirha bayibiza ngokuba yi`(Hypoventilation)` (hypoventilation). Khawuthelekelele, xa siphefumla ngokwesiqhelo, imiphunga yethu iyavuthelana ize ifinyeze ukuze ithathe ioksijini ize ikhuphe i-carbon dioxide. Kodwa kumntu one`(CCHS)`, le nkqubo yokuphefumla, ingakumbi ukuphefumla okulawulwa ngumzimba ngokwendalo, ayenzeki ngendlela efanelekileyo. Ngenxa yoko, inqanaba leoksijini egazini liyehla kwaye inqanaba le-carbon dioxide liyenyuka ngokungeyomfuneko. Oku kunokuchaphazela iinkqubo ezininzi emzimbeni.

Le meko `(CCHS)` ichaphazela inkqubo yethu yemithambo-luvo ezimeleyo yomzimba `(Autonomic Nervous System)` . Ngoku usenokuba uzibuza ukuba yintoni le nkqubo yemithambo-luvo ezimeleyo. Khawuthelekelele, xa siqhuba imoto, senza izinto ezifana nokutshintsha `iigiya` kunye `nebhuleki` ngabom. Kodwa ezinye izinto emzimbeni wethu zenzeka ngokuzenzekelayo, kwaye asicingi ngazo. Njengokuphefumla (imiphunga yethu iyasebenza nokuba silele!), ukugaya ukutya, ukubetha intliziyo yethu, ukulawula ubushushu bomzimba wethu, ukubila, kunye nokuxinana kwe-iris xa ukukhanya kubetha emehlweni ethu. Zonke ezi zinto zilawulwa yinkqubo yemithambo-luvo ezimeleyo. Xa sine `(CCHS)`, ezi nkqubo zizenzekelayo nezibalulekileyo ziyachaphazeleka. Ke ngoko, ukongeza ekuphefumleni, iingxaki zinokuvela nakwizinto ezifana nezi:

• Ukulawula uxinzelelo lwegazi.
• Umsebenzi wamathumbu.
• Inqanaba lentliziyo.
• Ulawulo lobushushu bomzimba.

Le meko ibizwa ngokuba yi-``(CCHS)`` ngamanye amagama aliqela. Ugqirha wakho angasebenzisa elinye lala magama, ngoko ke kulungile ukuba uqaphele:

• "Ukuphefumla Okungapheliyo Okubangelwa YiCongenital Central Hypoventilation"
• "Ukusilela kokuzalwa koLawulo lokuZilawula"
• "Ukusilela kokuzalwa kwe-Respiratory Drive"
• 'Isifo sikaHaddad'
• Ngamanye amaxesha ikwabizwa ngokuba yi-'Ondine Syndrome', 'Ondine-Hirschsprung Disease', okanye 'Ondine's Curse'.

Ixhaphake kangakanani i-CCHS?

Enyanisweni, i-CCHS yimeko engaqhelekanga kakhulu.Khawucinge nje, zimbalwa kakhulu iimeko, malunga ne-1000 ukuya kwi-1200, eziye zachongwa kwihlabathi liphela. Nangona kunjalo, izazinzulu zikholelwa ukuba ngamanye amaxesha, ngenxa yeemeko ezingafunyaniswanga ze-`(CCHS)`, kukho ukurhaneleka kokuba ezinye zeziganeko zokufa kweentsana ngequbuliso, oko kukuthi, `Isifo Sokufa Kweentsana Ngesiquphe (SIDS),` zinokwenzeka. Oko kukuthi, nangona isenokuba yi-`(SIDS)`, unobangela oyintloko usenokuba yi-`(CCHS)`. Ke ngoko, kubaluleke kakhulu ukukwazi oku.

Zithini iimpawu ze-CCHS? Uzibona njani?

Iimpawu zokuqala ze-CCHS zihlala zibonakala xa umntwana ezalwa okanye kwiinyanga zokuqala zobomi bakhe. Ezi zezona mpawu ziphambili ezinokubonwa:

• Ukutshintsha kombala oluhlaza okwesibhakabhaka kwemilebe okanye ulusu (iCyanosis): Oku kufana nokunqongophala komoya-mpilo. Oku kubonakala ngakumbi xa umntwana elele.
• Ukuphefumla okungaqhelekanga ngexesha lokulala (Hypoventilation): Ukuphefumla kunokuvakala ngathi kuncinci kakhulu okanye kukhawuleze. Ngamanye amaxesha kunokubonakala ngathi ukuphefumla kuyayeka okwethutyana.

Kubalulekile: Ukuba ubona ezi mpawu, kufuneka ubone ugqirha ngokukhawuleza.

Kodwa ngamanye amaxesha, ukuba imeko ayimbi kangako, ezi mpawu zinokuvela kamva ebomini. Okanye, ezinye iimpawu zinokuvela. Jonga ukuba umntwana wakho unayo na enye yezi:

• Ukuphazamiseka kwamehlo: Umzekelo, indlela i -iris esabela ngayo ekukhanyeni nakwisandi inokuncipha, amehlo asenokudibana (strabismus), okanye indlela obona ngayo kude inokutshintsha (ukutshintsha kokuqonda ubunzulu).
• Iintlungu ezinciphileyo: Nokuba yingozi encinci inokuba buhlungu kancinci.
• Ukungabikho kwehomoni yokukhula: Ukukhula komntwana kusenokucotha kunabanye abantwana.
• Ndibila nje kakhulu ngaphandle kwesizathu.
• Iingxaki zesisu (GI): Ukubuyela umva kwesisu, ukuqhina rhoqo, kwaye ngamanye amaxesha ukuvaleka kwamathumbu amancinci okanye ukuvaleka kwamathumbu amakhulu. Isifo sikaHirschsprung (CCHS) sinokubonwa nakwiCCHS.
• Ubushushu Bomzimba Obuphantsi: Umzimba usenokuziva ubanda ngalo lonke ixesha.
• Iingxaki zenkqubo yemithambo-luvo: Izinto ezifana nokukhubazeka kokufunda.
• Ubunzima ekulawuleni izinga lentliziyo kunye noxinzelelo lwegazi.

Kutheni le nto i-CCHS yenzeka? Yintoni unobangela?

Kulungile, ngoku masibone ukuba kutheni le meko ibizwa ngokuba yi-`(CCHS)` isenzeka. Isizathu esiphambili soku kukuguquka kwenye yezakhi zofuzo zethu. Le jini ibizwa ngokuba yi -`PHOX2B` (Fox-2-B) gene.Le gene ye-'PHOX2B' ibaluleke kakhulu ekuveliseni iproteni enceda iiseli zemithambo-luvo, ingakumbi ezo seli zenkqubo yemithambo-luvo ezimeleyo esithethe ngazo, zikhule kakuhle xa zikhula esibelekweni njengomntwana ongekazalwa.

Kubantu abaninzi abane-CCHS, olu tshintsho lwezakhi zofuzo lutshintsho olutsha, oluqhubekayo rhoqo. Oku kuthetha ukuba olu tshintsho aluzuzwa kumama okanye kutata, kodwa lutshintsho olutsha emzimbeni womntwana. Nangona kunjalo, kwiimeko ezimbalwa kakhulu, lunokudluliselwa kwisizukulwana ukuya kwesinye. Oku kuthetha ukuba omnye wabazali unalo olu tshintsho lwezakhi zofuzo kwaye umntwana usenokuba ulufumene njengelifa.

Ungazi njani ngokuqinisekileyo ukuba une-CCHS? (Ukuxilongwa)

Eyona ndlela iqinisekileyo necacileyo yokuqinisekisa ukuba une-CCHS kukwenza uvavanyo lwemfuza ukuze kubonwe ukuba kukho utshintsho kwi-PHOX2B gene. Le yindlela kuphela oogqirha abanokuqiniseka ngayo nge-100% ukuba unayo na le meko okanye akunjalo.

Nangona kunjalo, oogqirha banokwenza ezinye iimvavanyo ezininzi ukuze baqonde imiphumo yesi sifo emzimbeni kunye nokufumanisa unobangela weempawu. Umzekelo:

• Uvavanyo lweGazi: Jonga izinto ezifana namanqanaba eoksijini kunye nekhabhoni dayokhsayidi emzimbeni.
• Ukuba uneempawu zeengxaki zokugaya ukutya, mazihlolwe nge-colonoscopy , mhlawumbi nge-biopsy .
• I-'Echocardiogram' yokujonga ukusebenza kwentliziyo.
• Uvavanyo lwemifanekiso olufana ne-X-ray, i-CT scan, okanye i-MRI ukujonga ngaphakathi esifubeni nasesiswini ukuze kubonwe ukuba akukho zithintelo na.
• Uvavanyo lwamehlo ukujonga imeko yamehlo.
• Izifundo Zokulala : Olu luvavanyo olubaluleke kakhulu. Kulo mba, umntwana ulaliswa kwigumbi elikhethekileyo esibhedlele kwaye izinto ezahlukeneyo ezifana neendlela zokuphefumla, izinga lokubetha kwentliziyo, kunye namanqanaba eoksijini zijongwa ngoomatshini.

Ngaba i-CCHS inganyangeka ngokupheleleyo?

Umbuzo abantu abaninzi abawubuzayo nabawucingayo kukuba ingaba `(CCHS)` inokuphiliswa ngokupheleleyo na. Inyaniso kukuba, okwangoku akukho nyango luthile lwe-`CCHS`. Yimeko ehlala ihleli. Kodwa, ungakhathazeki. Unyango lujolise ekulawuleni iimpawu, ukunciphisa iingxaki ezinokubakho, kunye nokunceda isigulana siphile ngokukhuselekileyo, ngokukhululeka, kwaye kangangoko kunokwenzeka.

Luluphi unyango lomntu one-CCHS?

Abantu abaninzi abane-CCHS bafuna inkxaso yokuphefumla ubomi babo bonke.Iyafuneka. Oku kubizwa ngokuba yi-'Ventilator'. Abanye abantu bayayidinga imini yonke, ngalo lonke ixesha. Kodwa abanye bayidinga kuphela xa belele. Oko kwenziwa yile '(Ventilator)' kukunceda umzimba uphefumle ngesingqi esithile, njengoko kufuneka. Oku kunokugcina inqanaba leoksijini egazini lilungile kwaye kuthintele inqanaba lekhabhoni diokside ukuba linganyuki.

Ukongeza, kukho nezinye iindlela zonyango ezixhasayo. Ezi ndlela zonyango ziyahluka ngokuxhomekeke kwiimpawu zomntu ngamnye:

• Iingxaki zokubona zingalungiswa ngeeglasi, iilensi zokunxibelelana, okanye notyando. Ezi zinokunceda ekukhuseleni amehlo ekukhanyeni okugqithisileyo.
• Unyango lweHormone yoKhula (GHT) lokukhula okukhawulezileyo.
• Amayeza okunciphisa iimpawu zenkqubo yokugaya ukutya (umz., `Reflux`, `Ukuqhinwa`).
• Lawula uxinzelelo lwegazi kunye nesantya sentliziyo ngamayeza okanye ezinye iindlela zonyango .
• Uvavanyo lokuhlolwa rhoqo lwenziwa ukuze kufunyanwe ezinye iingxaki zempilo ezinxulumene noko kwangethuba.

Le nkqubo yonyango ingafuna inkxaso yeengcali ezahlukeneyo . Khawucinge nje, kukho ingcali efanelekileyo kwiingxaki zomntu ngamnye. Kubaluleke kakhulu ukuba iingcali ezahlukeneyo ezifana nale zihlangane kwaye ziphathe njengeqela. Kuba `(CCHS)` ayisiyonto ichaphazela kuphela inxalenye enye yomzimba. Ngoko ke xa umntu ngamnye esebenzisa ubuchule bakhe ukusombulula iingxaki ezahlukeneyo zomntwana, inyameko umntwana ayifumanayo igqibelele ngakumbi. Umzekelo:

• Iingcali zentliziyo zezifo zentliziyo.
• Iingxaki zendlebe, impumlo, nomqala zinyangwa ziingcali ze-ENT .
• Iingcali ze-Endocrinologists ziingcali kwi-endocrine glands kwiingxaki ezinxulumene ne-hormone.
• Iingcali ze-Gastroenterologists ziingcali kwizifo zesisu kwiingxaki zenkqubo yokugaya ukutya.
• Iingcali ze-neurologists ziingcali kwimiphumo yengqondo nokufunda.
• Iingcali zamehlo zinyanga iimpawu ezinxulumene namehlo.
• Oogqirha bonyango oluphambili (njengoogqirha babantwana).
• Iingcali zePulmonologists ziingcali kwiingxaki zokuphefumla .
• Iingcali zePathology zeNtetho kunye noLwimi.
• Abasebenzi beNtlalontle (banika usapho inkxaso yengqondo neyoluntu efunekayo).

Ngaba ikho indlela yokuthintela i-CCHS?

Rhoqo xa sithetha ngesifo, sithetha nangendlela yokuzikhusela kuso. Nangona kunjalo, kwimeko ye-`(CCHS)`, akukho ndlela iqinisekisiweyo efunyenweyo yokuthintela ukwenzeka kwaso.Ngenxa yokuba ibangelwa kakhulu yimbangela yemfuza (utshintsho kwi-gene ye-'PHOX2B'), kunzima ukuyithintela. Nangona kunjalo, ukuba kukho umntu kusapho onale `(CCHS)`, licebo elihle ukuthetha nogqirha malunga neengcebiso zemfuza kunye novavanyo kwabanye.

Buza kuba njani ubomi ngeCCHS? Izinto ezibalulekileyo ekufuneka uzazi

Ixesha lokuphila komntu ophila ne-CCHS kunye nokukhubazeka okunokwenzeka kunokwahluka kakhulu. Kuxhomekeke kwizinto ezifana nobunzima besifo, ixesha elithathwayo ukuqala unyango, kunye nempumelelo yonyango .

Nangona kunjalo, ukuba baxilongiwe kwangethuba baze banyangwe ngokufanelekileyo nangokungaguquguqukiyo , abantu abane-CCHS ethambileyo banokuphila ubomi obuphumelelayo, obuvelisayo, nobonwabisayo. Banokuya esikolweni, badlale, baze basebenze xa bekhula. Nangona kunjalo, ukuba isifo sibi kakhulu, okanye ukuba unyango alunikwanga ngokufanelekileyo okanye lulibaziseka, ukukhubazeka okukhulu, iingxaki zempilo, kunye nobude bobomi obufutshane kunokwenzeka. Ke ngoko , ukuxilongwa ngexesha elifanelekileyo kunye nonyango oluqhubekayo kubaluleke kakhulu.

Oku kubaluleke kakhulu ukukhumbula: Abantu abane-CCHS banamathuba amaninzi okufumana iintlobo ezithile zeethumba zenkqubo yemithambo-luvo. Ngoko ke, kubalulekile ukuvavanywa rhoqo kwezi ntlobo zeethumba. Okukhona zifunyanwa kwangethuba, kokukhona kulula ukuzinyanga. Kufuneka ulumke ngakumbi ngezi ntlobo zeethumba:

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

Ngoko ke, ungalibali ukuqhubeka nokuhlolwa njengoko ugqirha ecebisile.

Imibuzo ebalulekileyo ekufuneka uyibuze ugqirha wakho malunga ne-CCHS

Ukuba wena okanye umntu kusapho lwakho ufunyaniswe ene-CCHS, qiniseka ukuba ubuza ugqirha wakho le mibuzo. Le mibuzo iya kukunceda uqonde imeko kwaye ucwangcise amanyathelo akho alandelayo:

• "Ingakanani i-`(CCHS)' yomntwana wam/wam?"
• "Zeziphi iinkqubo zomzimba (umz., ukuphefumla, intliziyo, amathumbu) ezichaphazeleka yimeko yam/yomntwana wam?"
• "Luhlobo luni lweengcali endiza/esiza kuzifuna? Ndifanele ndizibone kangaphi?"
• "Ngaba mna/umntwana wam siyayidinga i-'Ventilator'? Ukuba kunjalo, ngaba ndifanele ndiyisebenzise ngalo lonke ixesha, okanye xa ndilele kuphela?"
• "Kufuneka ndivavanywe kangaphi ukuze ndijonge amehlo am, intliziyo, imiphunga, inkqubo yokwetyisa, kunye nezinye iinkqubo zomzimba?"
• "Kufuneka ndihlole kangaphi ezo thumba ndizikhankanyileyo ngaphambili?"
• "Ingaba licebo elihle ukuba lonke usapho lwam (umz. abantakwethu, abazali) nabo benze uvavanyo lwemfuza?"

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Nangona i-CCHS iyinto eyoyikisayo nengaqhelekanga, ingalawulwa ukuba unolwazi olufanelekileyo kwaye uqale unyango ngexesha. Eyona nto iphambili kukufuna iingcebiso zonyango kwangoko wakuba uqaphela iimpawu, ingakumbi ukuba ubona nantoni na engaqhelekanga kwindlela yokuphefumla komntwana wakho, njenge-cyanosis. Eyona nto ibalulekileyo kukungabi naxhala, kodwa kukuthatha amanyathelo ngaphandle kokulibazisa.

Ukuphila nale meko kunokuba nzima kwiintsapho, yinyani leyo. Kodwa khumbula, awuwedwa. Oogqirha, abahlengikazi, iingcali zonyango, kunye nabanye oochwephesha bezempilo bakhona ukunceda nokukhokela wena nomntwana wakho. Ngolawulo olufanelekileyo lwezonyango, ukhathalelo losapho olunothando, kunye nesimo sengqondo esihle, umntwana one-CCHS unokuphila ubomi obonwabisayo nobuqhelekileyo kangangoko kunokwenzeka. Musa ukoyika ukubuza imibuzo, ukufuna ulwazi, kwaye unike umntwana wakho okona kulungileyo kuye.

I- CCHS, i-Congenital Central Hypoventilation Syndrome, i-congenital respiratory distress syndrome, inkqubo ye-autonomic nervous system, i-PHOX2B gene, inkxaso yokuphefumla, impilo yeentsana, i-cyanosis, uvavanyo lwe-genetic