Ingaba umntwana wakho omncinci unazo ezi mpawu? Masithethe nge-Alagille Syndrome!

Ngaba wakha wacinga ukuba ngamanye amaxesha ezinye zezifo ezifunyanwa ngabantwana bethu zinokuba nzima kancinci? Kaloku, enye yeemeko ezinjalo ezifuna unonophelo oluncinci, kodwa zinokulawulwa ukuba unokuqonda okuchanekileyo , ibizwa ngokuba yi-Alagille Syndrome. Oku kwaziwa ngokuba yi-Alagille-Watson syndrome. Le yimeko yemfuza, oko kuthetha ukuba yinto esiyizuza njengelifa kubazali bethu. Ichaphazela kakhulu isibindi nentliziyo yethu. Nangona kunjalo, nezinye iindawo zomzimba zinokuchaphazeleka. Makhe sithethe ngale nto ngokweenkcukacha, akunjalo?

Yintoni kanye kanye i-Alagille Syndrome?

Ngamafutshane, i-Alagille Syndrome yimeko yemfuza . Oku kunokuphazamisana nokusebenza kwesibindi sethu, kwaye kubangele utshintsho oluthile kunye nobuthathaka kwisakhiwo sentliziyo, oko kukuthi, indlela eyakheke ngayo intliziyo. Abanye abantwana abazalwa nale meko baneempawu ezithile kwinkangeleko yabo. Ezinye zeengxaki ezinokuvela koku zinokuba yingozi kakhulu kwaye zisongele ubomi. Yiyo loo nto kubaluleke kakhulu ukuqaphela oku.

Zeziphi iindawo zomzimba ezichaphazeleka yi-Alagille Syndrome?

Sele sitshilo ukuba oku kuchaphazela kakhulu isibindi nentliziyo. Kodwa, akuphelelanga apho. Kunokuchaphazela nophuhliso lwezinye izitho ezibalulekileyo emzimbeni wakho. Nazi:

• Intliziyo: Iingxaki ngeevalvu zentliziyo kunye nemithambo yegazi zinokubakho.
• Izintso: Izinto ezifana nokuncipha kwezintso kunye nokwakheka kwe-cyst.
• I-Pancreas: Umsebenzi we-pancreas, onceda kwinkqubo yokugaya ukutya, nawo unokuphazamiseka.
• Amehlo: Ukuphazamiseka kokubona.
• Ithambo: Utshintsho oluthile emathanjeni, njengomqolo.
• Imithambo yegazi: Iingxaki zinokubakho nakwimithambo yegazi yengqondo.

Ngubani onokufumana le meko? Ixhaphake kangakanani?

I-Alagille Syndrome yimeko yemfuza . Oku kuthetha ukuba ukuba umntwana uzuze i-gene kumama okanye kutata, umntwana unokuba nezi mpawu. Oogqirha bathi oku yipatheni ye-"autosomal dominant" yelifa. Oku kuthetha ukuba nokuba omnye wabazali une-gene, umntwana usenokukhula nale meko. Ngokwesiqhelo, phakathi kwama-30% nama-50% amatyala adluliselwa kusapho ukuya kusapho ngale ndlela.

Nangona kunjalo, ngamanye amaxesha inokukhula kumntu omtsha, nokuba akukho mntu kusapho lwakhe owakha waba nale meko ngaphambili. Oku kuthetha ukuba inokuvela ingenambali yosapho.

Ngokwendlela oku kuxhaphake ngayo, kuqikelelwa ukuba le meko ichaphazela umntu omnye kubantu abangama-30,000 ukuya kuma-45,000.Kodwa eli asilo nani lifanelekileyo, kuba ngamanye amaxesha lisenokungafunyaniswa, okanye lisenokuphambaniswa nesinye isifo kuba kuphela ziimpawu ezinzima kakhulu ezinyangwayo.

I-Alagille Syndrome iyichaphazela njani umzimba wam?

Iimpawu ze-Alagille Syndrome ziyahluka kumntu nomntu. Oku kuthetha ukuba ayinguye wonke umntu onesi sifo oza kuba neempawu ezifanayo. Okwenzekayo kukuba imibhobho yenyongo esibindini sethu ayikhuli kakuhle. Isenokuba mifutshane kakhulu, incinci, okanye inemibhobho yenyongo embalwa. Le mibhobho yenyongo yiyo ethwala inyongo eveliswa esibindini - ulwelo olunceda ekugayeni amafutha ekutyeni esikutyayo - ukuya kwinyongo nakwisisu esincinci. Ngoko ke, xa le mibhobho yenyongo iyeka ukusebenza kakuhle, inyongo ibanjwa esibindini. Emva koko isibindi siqala ukonakala .

Ngokufanayo, oku kuyayichaphazela intliziyo. Njengoko imibhobho yenyongo iba mxinwa, iivalvu zentliziyo kunye nemithambo yegazi zinokuncitshiswa kwaye utshintsho lunokwenzeka. Oku kunokuphazamisa ukuhamba kwegazi ukusuka entliziyweni ukuya emzimbeni wonke, kwaye ioksijini isenokungafiki ngokufanelekileyo.

Zithini iimpawu ze-Alagille Syndrome?

Ezi mpawu zihlala zibonakala ebuntwaneni okanye ebuntwaneni . Nangona kunjalo, zisenokungabonakali de umntu abe mdala. Ubunzima beempawu bunokwahluka nokuba kusapho olunye.

Iimpawu ezinxulumene nesibindi

Sixelelwe ukuba i-Alagille Syndrome inokubangela umonakalo kwisibindi. Xa isibindi sonakele, unokubona iimpawu ezifana nezi:

• Ukutyheli kolusu namehlo – oku sikubiza ngokuba yi-jaundice (okanye i-icterus).
• Ulusu lurhawuzelela kakhulu.
• Iimpuphu ezimthubi, ezinamafutha (ezifana namaqhuma) kumphezulu wesikhumba (ii-xanthomas).
• Umchamo omnyama.

Lo monakalo wesibindi uyenzeka kuba imibhobho yenyongo ayikho, incinci, okanye ayilunganga. Le mibhobho yenyongo ithwala inyongo, ulwelo olunceda ekugayeni amafutha, ukusuka esibindini ukuya kwinyongo nakwithumbu elincinci. Xa le mibhobho ingasebenzi kakuhle, inyongo iyaqokelelana esibindini. Isibindi asikwazi ukwenza umsebenzi waso ngokufanelekileyo, okukukususa inkunkuma egazini.

Ngenxa yokuba umzimba awukwazi ukufunxa amafutha kunye neevithamini ezithile (ingakumbi u-A, u-D, u-E, kunye no-K), iimpawu ezongezelelweyo zinokubakho:

• Ubuthathaka bamathambo.
• Ukukhula okunciphileyo, akukho kunyuka kobude.
• Iingxaki zokubona (ingakumbi ezichaphazela i-cornea kunye ne-retina).
• Iingxaki ngokulinganisela komzimba kunye neentshukumo.
• Ukuthambekela ekuqhekekeni kwegazi.
• Ukulibaziseka kophuhliso.
• Ukuvaleka kwesibindi (i-cirrhosis).

Malunga ne-15% yabantu abane-Alagille Syndrome basengozini yokufumana izifo ezisongela ubomi ezifana nesifo sesibindi esinzima kunye nokungasebenzi kakuhle kwesibindi.

Iimpawu ezinxulumene nentliziyo

I-Alagille Syndrome inokuchaphazela intliziyo kunye nokusebenza kwayo. Oku kuthetha ukuba:

• I-pulmonary artery stenosis kukuncitshiswa komthambo wegazi othwala igazi ukusuka entliziyweni ukuya emiphungeni.
• Utshintsho kwisakhiwo sentliziyo. Umzekelo, umngxuma ophakathi kwamagumbi amabini asezantsi entliziyo (i-ventricular septal defect), okanye ukuncitshiswa kombhobho othwala igazi ukuya emiphungeni, umngxuma ophakathi kwamagumbi entliziyo, utshintsho kwindawo yomthambo wegazi oyintloko (i-aorta), kunye ne-ventricle yasekunene eyandisiweyo (i-tetralogy of Fallot).
• Izandi zentliziyo ezingaqhelekanga (ukugquma kwentliziyo).
• Ukutshintsha kombala wesikhumba (i-cyanosis) okubangelwa kukungafumani oksijini egazini.

Iimpawu ezibonakalayo ebusweni nasemzimbeni

Abantwana abazelwe bene-Alagille Syndrome baneempawu ezahlukeneyo zobuso:

• Umgama phakathi kwamehlo ubanzi, amehlo anzulu kakhulu.
• Isilevu esibukhali nesicacileyo.
• Ibunzi elikhulu.

Ezinye iimpawu ezinokubonakala emzimbeni zezi:

• Ukuphazamiseka kwamathambo. Umzekelo, amathambo ebhabhathane.
• Ingozi yokopha kunye nokubetha kwentliziyo ebuchotsheni ngenxa yokungasebenzi kakuhle kwemithambo yegazi ebuchotsheni.
• Ukuncitshiswa kancinci kancinci komthambo omkhulu engqondweni (iMoyamoya syndrome).
• Iingxaki zezintso (ukuncipha, ii-cysts, ukusebenza okulinganiselweyo).
• I-pancreas ayikwazi ukuqhekeza kakuhle kwaye ifunxe izondlo ekutyeni.

Ngaba i-Alagille Syndrome ichaphazela ubuchule bengqondo?

Malunga ne-2% yabantwana abane-Alagille Syndrome baneempazamo zengqondo . Nangona kunjalo, abanye abantwana (malunga ne-16%) banokuba nokulibaziseka okuncinci ekuphuhliseni imigangatho yemisipha yomzimba, njengokuhamba. Nangona kunjalo, oku akukokukhubazeka kwengqondo.

Yintoni ebangela i-Alagille Syndrome?

Kwiimeko ezininzi, ngaphezu kwama-90% eemeko ze-Alagille Syndrome zibangelwa yingxaki ye-gene JAG1. Oku kungaba kukuguquka kwe-gene okanye ukucinywa. Ezinye ii-2% ukuya kwi-3% zinenguqu kwi-gene NOTCH2. Nangona kunjalo, malunga ne-3% yamatyala, imbangela echanekileyo ye-genetic ayaziwa.

Ezi jini, ezibizwa ngokuba yi-`JAG1` kunye ne-`NOTCH2`, ziyalela iiseli zethu ukuba zivelise iiproteni ezifunekayo ukwakha iindawo ezahlukeneyo zomzimba ngexesha lesigaba sokuzalwa. Ukuba kukho utshintsho kwezi jini zimbini, okanye ukuba kukho ukulahleka kwezinto zejini kwinxalenye ye-chromosome 20 apho ijini ye-`JAG1` ikhoyo, iiseli azifumani loo miyalelo ngokufanelekileyo. Kulapho kuvela khona iimpawu ezifana neziphene zesakhiwo entliziyweni, ukuncitshiswa kwe-bile ducts, kunye nokuphazamiseka kwamathambo.

Ifunyanwa njani i-Alagille Syndrome?

Kunokuba nzima ukuxilonga i-Alagille Syndrome kuba iimpawu ziyahluka kumntu nomntu. Ukuxilonga kuqala ngembali epheleleyo yezonyango kunye nokuhlolwa ngokupheleleyo kweempawu zakho. Ugqirha unokurhanela i-Alagille Syndrome ukuba uneempawu ezintathu kwezi zilandelayo:

• Imilo engaqhelekanga yemibhobho yenyongo.
• Isifo sesibindi okanye ukuvaleka kokuhamba kwenyongo (i-cholestasis).
• Isifo sentliziyo.
• Ukuphazamiseka kwamathambo.
• Iingxaki zokubona.
• Iimpawu zobuso ezahlukileyo.

Kwenziwa iimvavanyo ezininzi ukuqinisekisa ukuxilongwa:

• Ukuthatha iqhekeza elincinci lesibindi ukuze lihlolwe (i-liver biopsy).
• Uvavanyo lwegazi.
• Uvavanyo lwamehlo.
• I-X-ray yomqolo.
• I-ultrasound yesisu kunye/okanye yentliziyo.
• Uvavanyo lwemfuza.
• Uvavanyo lokusebenza kwezintso.
• Uvavanyo lokusebenza kwepancreas.

Ndingazi njani ukuba umntwana wam une-Alagille Syndrome okanye i-Biliary Atresia?

I-Alagille Syndrome kunye ne-Biliary Atresia zineempawu ezifanayo. Kwi-Alagille Syndrome, ukuhamba kwe-bile ngemibhobho ye-bile ukuya emathunjini amancinci kuyathintelwa, kwaye i-bile iyanda esibindini. I-Biliary Atresia ikwabangelwa kukonakala okanye ukuqhekeka kwemibhobho ye-bile, okunokubangela iimpawu ezifanayo. Iintsana ezisandula ukuzalwa zinokufumana iimpawu ezifanayo kuzo zombini iimeko:

• Umchamo onombala omnyama.
• Izitulo ezinombala okhanyayo.
• Ukudumba kwesisu.
• I-jaundice iyaqhubeka kangangeeveki ezininzi emva kokuzalwa.

Iintsana ezine-biliary atresia zinokuba nezinye iziphene zokuzalwa, ezifana ne-Alagille Syndrome, kunye nokuphazamiseka kwentliziyo, izintso kunye ne-spleen. Ezinye izifundo zibonise ukuba i-gene efanayo ebizwa ngokuba yi-JAG1 ebangela i-Alagille Syndrome isenokuba ibandakanyeka kwi-biliary atresia.

Ngenxa yokuba i-biliary atresia ixhaphake kakhulu kune-Alagille syndrome, kwaye ngenxa yokuba imiphumo ye-Alagille syndrome ayibonakali kwasebuntwaneni, oogqirha banokuqala bakrokre ukuba i-biliary atresia. Nangona kunjalo, unyango lwezi meko zombini lufana kakhulu . Ukuba umntwana wakho kamva uba nezinye iimpawu ze-Alagille syndrome, inokufunyanwa ngelo xesha.

Inyangwa njani i-Alagille Syndrome?

Akukho nyango lucacileyo lwale meko okwangoku.Ngoko ke, unyango lujoliswe ekulawuleni iimpawu ezivelayo. Oko kukuthi, unyango lumiselwa ziimpawu. Oku kulandelayo kungenziwa njengonyango:

• Ukubonelela ngeevithamini A, D, E kunye no-K.
• Ukunika iintsana ubisi lwebele olune-"medium-chain triglycerides" olunokufunxa izondlo kakuhle.
• Ukutya ngetyhubhu ye-gastrostomy okanye ityhubhu ye-nasogastric ukuhambisa ukutya ngqo kwinkqubo yokugaya ukutya.
• Ukubonelela ngamayeza (i-ursodeoxycholic acid) anyanga izifo zesibindi.
• Ukusetyenziswa kwamayeza okunyanga ukurhawuzelela (umz. ii-antihistamines, i-cholestyramine, i-naltrexone, i-rifampin) kunye nee-moisturizers okanye ii-lotions zokufumisa ulusu.
• Ukususwa kwenyongo ngokwenxalenye yindlela yotyando yokutshintsha indlela yenyongo phakathi kwesibindi kunye nomgudu wamathumbu.
• Utyando lweemeko ezichaphazela intliziyo, imithambo yegazi kunye nezintso.

Ukuba i-Alagille Syndrome ibangela umonakalo omkhulu kwisibindi kunye nokungasebenzi kakuhle kwesibindi, ukufakelwa kwesibindi kunokufuneka.

Ndingaphila njani kwaye ndilawule njani iimpawu zam?

Ngenxa yokuba iimpawu zahlukile kuye wonke umntu onesi sifo, ugqirha wakho uya kugqiba ukuba loluphi unyango olukufaneleyo. Kubalulekile ukuba novavanyo oluqhelekileyo ukuze kuhlolwe impilo yentliziyo yakho nesibindi sakho. Ukuba ugqirha wakho uqala unyango olutsha, kuya kufuneka uphinde ubonane nogqirha wakho kwiiveki ezimbalwa ukuze ubone ukuba lusebenza kakuhle kangakanani na kwaye zeziphi iziphumo ebezingalindelekanga. Uninzi lonyango lusebenza ngokunciphisa iimpawu, ukukunceda uzive ungcono, kunye nokuthintela iingxaki ezinzulu nezisongela ubomi.

Ngaba i-Alagille Syndrome ingathintelwa?

Ekubeni esi sisifo esibangelwa lutshintsho lwemfuza, akukho ndlela yokusithintela . Ukuba kukho umntu kusapho lwakho one-Alagille Syndrome, okanye ukuba ulindele umntwana kwaye ufuna ukwazi umngcipheko wakho wokudlulisela esi sifo kumntwana wakho, thetha nogqirha wakho malunga novavanyo lwemfuza.

Luhlobo luni lwekamva umntu one-Alagille Syndrome anokulilindela?

Akukho ndlela ithile yonyango lwe-Alagille Syndrome, njengoko iyinto ehlala ubomi bonke . Unyango lujolise ekulawuleni iimpawu, ukunika intuthuzelo, kunye nokuthintela iingxaki ezisongela ubomi.

Kubaluleke kakhulu ukuyibona le meko kwasekuqaleni uze uqale unyango. Oku kunokunciphisa iziphumo.

Abantu abanesifo sesibindi esinzima nesifo sentliziyo banokuba nexesha elifutshane lokuphila. Nangona kunjalo, ngoku kukho unyango oluninzi olunokunceda ekuguquleni le meko.

Abantu abane-Alagille Syndrome kufuneka babonane noogqirha babo rhoqo ukuze bahlolwe rhoqo . Oku kunokunceda ekuboneni ukuba imeko ibangela iimpawu ezisongela ubomi na kunye nokuba unyango lusebenza kangakanani na. Ukuhlolwa rhoqo kunokuquka:

• Uvavanyo lwentliziyo nge-ultrasound (echocardiogram).
• I-ultrasound yesisu (isibindi kunye nezintso).
• Uvavanyo lwamehlo lonyaka.
• I-MRI scan yemithambo yegazi yengqondo.

Ingakanani iminyaka yobomi bomntu one-Alagille Syndrome?

Uninzi lwabantu abaneempawu ezincinci ze-Alagille Syndrome banokuphila ubomi obuqhelekileyo . Nangona kunjalo, abo baneempawu ezinzima banokuba nexesha elinciphileyo lokuphila.

Thetha nogqirha wakho malunga neempawu zakho. Uhlala eyalela iimvavanyo ukujonga indlela amalungu akho angaphakathi asebenza ngayo. Injongo ephambili yonyango kukuthintela iimpawu ezisongela ubomi.

Ndifanele ndimbone nini ugqirha wam?

Ukuba ufunyenwe une-Alagille Syndrome kwaye ufumana naziphi na kwezi mpawu zokonakala kwesibindi, bona ugqirha ngokukhawuleza:

• Ukuba ulusu lwakho kunye/okanye amehlo akho ajika abe tyheli.
• Ukuba ulusu lurhawuzelela kakhulu ngaphandle kwesizathu esithile.
• Ukuba amafutha (amaqhuma atyheli) ayabonakala kumphezulu wolusu.
• Ukuba umchamo wakho umnyama kunesiqhelo.

Ukuba ufumana naziphi na iimpawu ze-Alagille Syndrome ezenza kube nzima kuwe ukwenza imisebenzi yakho yemihla ngemihla, bonana nogqirha wakho ngoko nangoko. Kubalulekile nokwazisa ugqirha wakho ukuba umntwana wakho one-Alagille Syndrome ubonisa naziphi na izigaba zokukhula kwakhe ebuntwaneni okanye ebuntwaneni.

Ndingaya nini kwiSebe leeNgxamiseko (i-ETU) ?

I-Alagille Syndrome inokubangela iimpawu zentliziyo ezisongela ubomi . Ukuba unayo nayiphi na kwezi mpawu, yiya kwigumbi longxamiseko ngokukhawuleza:

• Ukuba ukubetha kwentliziyo yakho akuhambelani.
• Ukuba unengxaki yokuphefumla.
• Ukuba ulusu lwakho, imilebe, okanye iinzipho zibonakala ziluhlaza okwesibhakabhaka.

Ezinye iimeko ze-Alagille Syndrome zisengozini enkulu yestroke. Ukuba ufumana naziphi na kwezi mpawu zestroke, fowunela u-911 ngoko nangoko (okanye uye kwigumbi likaxakeka elikufutshane nawe):

• Ukuba uziva ungenamdla kwelinye icala lomzimba wakho.
• Ukuba unengxaki yokuthetha, okanye ukuba amazwi akho ayabambeka.
• Ukuba kukho utshintsho olukhawulezileyo kwindlela ajonga ngayo.
• Ukudinwa, ukulahlekelwa yibhalansi, iingxaki zokulungelelanisa izinto.
• Intloko ebuhlungu kakhulu.

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa ubona ugqirha wakho, ungambuza imibuzo efana nale:

• Zinzima kangakanani iimpawu zam?
• Ngaba ndiza kufuna utyando?
• Ndingabuya nini ukuze ndibone ukuba unyango luphumelele kangakanani?
• Zithini iziphumo ebezingalindelekanga zonyango olunikiweyo?

Khumbula, i-Alagille Syndrome ichaphazela abantu abahlukeneyo ngeendlela ezahlukeneyo. Abanye abantu banokuba neempawu ezibuthathaka kakhulu, ngelixa abanye banokuba neempawu eziqatha ngakumbi ezifuna unyango okanye utyando olungakumbi. Ngoko ke sebenzisana nogqirha wakho ukuze ufumane unyango olufunayo. Kubalulekile ukuhlala unolwazi ngokuhlolwa kwakho ukuze ulawule iziphumo ebezingalindelekanga kunye neempawu ezinokuba yingozi ebomini.

Umyalezo Wokuya Ekhaya

I-Alagille Syndrome yimeko yemfuza. Ichaphazela kakhulu isibindi nentliziyo. Iimpawu zinokuhluka kumntu nomntu. Nangona kungekho nyango, kukho unyango olunokunceda ukulawula iimpawu nokuthintela iingxaki ezisongela ubomi. Ukuxilongwa kwangoko kunye nonyango kubalulekile, kwaye kufuneka ulandele icebiso likagqirha wakho. Ukuba wena okanye umntwana wakho unezinye zezi mpawu, ungoyiki ukubona ugqirha kwaye ufumane uncedo. Khumbula, awuwedwa, kwaye kukho oogqirha kunye nabantu obathandayo abanokukunceda kolu hambo.

Isifo se - Alagille, Izifo zofuzo, Izifo zesibindi, Izifo zentliziyo, Izifo zabantwana, i-jaundice