Ingabe ingane yakho encane inalezi zimpawu? Ake sixoxe nge-Alagille Syndrome!

Wake wacabanga ukuthi ngezinye izikhathi ezinye zezifo ezitholwa yizingane zethu zingaba nzima kancane? Nokho, esinye isimo esinjalo esidinga ukunakekelwa okuncane, kodwa esingalawulwa uma unokuqonda okufanele , sibizwa ngokuthi i-Alagille Syndrome. Lokhu kwaziwa nangokuthi i-Alagille-Watson syndrome. Lesi yisimo sofuzo, okusho ukuthi yinto esiyizuza njengefa kubazali bethu. Sithinta kakhulu isibindi nenhliziyo yethu. Kodwa-ke, nezinye izingxenye zomzimba nazo zingathinteka. Ake sixoxe ngalokhu ngokuningiliziwe, akunjalo?

Iyini ngempela i-Alagille Syndrome?

Kalula nje, i-Alagille Syndrome iyisimo esibangelwa izakhi zofuzo . Lokhu kungaphazamisa ukusebenza kwesibindi sethu, futhi kubangele izinguquko ezithile kanye nobuthakathaka esakhiweni senhliziyo, okungukuthi, indlela inhliziyo eyakheka ngayo. Abanye abantwana abazalwa nalesi simo banezici eziningana ezithile ekubukekeni kwabo. Ezinye zezinkinga ezingavela kulokhu zingaba yingozi kakhulu futhi zisongele nokuphila. Yingakho kubaluleke kakhulu ukuqaphela lokhu.

Yiziphi izingxenye zomzimba ezithinta i-Alagille Syndrome?

Sesishilo kakade ukuthi lokhu kuthinta kakhulu isibindi nenhliziyo. Kodwa, akupheleli lapho. Kungathinta nokuthuthukiswa kwezinye izitho ezibalulekile emzimbeni wakho. Lezi yizi:

• Inhliziyo: Izinkinga ngama-valve enhliziyo kanye nemithambo yegazi zingavela.
• Izinso: Izinto ezifana nokuncipha kwezinso kanye nokwakheka kwama-cyst.
• I-Pancreas: Umsebenzi we-pancreas, osiza enqubweni yokugaya ukudla, nawo ungaphazamiseka.
• Amehlo: Ukukhubazeka okuthile kokubona.
• Ithambo: Izinguquko ezithile emathanjeni, njengomgogodla.
• Imithambo yegazi: Izinkinga zingavela nasemithanjeni yegazi yobuchopho.

Ubani ongaba nalesi simo? Sivame kangakanani?

I-Alagille Syndrome yisimo sofuzo . Lokhu kusho ukuthi uma ingane izuza ifa lofuzo kumama noma kuyise, ingane ingase ibe nalezi zimpawu. Odokotela bakubiza lokhu ngokuthi iphethini "elawulayo ye-autosomal". Lokhu kusho ukuthi noma omunye wabazali enesakhi sofuzo, ingane isengaba naso lesi simo. Ngokuvamile, phakathi kuka-30% no-50% wamacala adluliselwa emndenini ngale ndlela.

Kodwa-ke, ngezinye izikhathi kungakhula kumuntu omusha, noma ngabe akekho emndenini oke waba nalesi simo ngaphambili. Lokhu kusho ukuthi singavela ngaphandle komlando womndeni.

Ngokuphathelene nokuthi lokhu kuvame kangakanani, kulinganiselwa ukuthi lesi simo sithinta cishe umuntu oyedwa kubantu abangu-30,000 kuya ku-45,000.Kodwa lokhu akulona inani elifanele, ngoba ngezinye izikhathi kungangatholakali, noma kungaphambaniswa nesinye isifo ngoba yizimpawu ezimbi kakhulu kuphela ezelashwayo.

I-Alagille Syndrome iwuthinta kanjani umzimba wami?

Izimpawu ze-Alagille Syndrome ziyahlukahluka kumuntu nomuntu. Lokhu kusho ukuthi akuwona wonke umuntu onalesi simo ozoba nezimpawu ezifanayo. Okwenzekayo ukuthi imisele ye-bile esibindini sethu ayikhuli kahle. Imfushane kakhulu, imincane, noma inemisele ye-bile embalwa. Le misele ye-bile yiyo ethwala i-bile ekhiqizwa esibindini - uketshezi olusiza ekugayeni amafutha ekudleni esikudlayo - iye enyongweni nasemathunjini amancane. Ngakho-ke, lapho le misele ye-bile iyeka ukusebenza kahle, i-bile ibanjwa esibindini. Ngemuva kwalokho isibindi siqala ukulimala .

Ngokufanayo, lokhu kuthinta nenhliziyo. Njengoba nje imigudu yenyongo iba mincane, ama-valve enhliziyo nemithambo yegazi kungaba mincane futhi kungenzeka izinguquko. Lokhu kungaphazamisa ukugeleza kwegazi kusuka enhliziyweni kuya emzimbeni wonke, futhi umoya-mpilo ungase ungalethwa kahle.

Ziyini izimpawu ze-Alagille Syndrome?

Lezi zimpawu zivame ukuvela ebuntwaneni noma ebuntwaneni . Kodwa-ke, zingase zingaveli kuze kube yilapho umuntu esemdala. Ubukhulu bezimpawu bungahluka ngisho nangaphakathi komndeni ofanayo.

Izimpawu ezihlobene nesibindi

Sitshelwe ukuthi i-Alagille Syndrome ingabangela ukulimala kwesibindi. Uma isibindi sonakele, ungase ubone izimpawu ezifana nalezi:

• Ukuphuzi kwesikhumba namehlo – lokhu sikubiza ngokuthi i-jaundice (noma i-icterus).
• Isikhumba siyaluma kakhulu.
• Ukuchitheka kwamafutha okuphuzi (njengamaqhubu) ebusweni besikhumba (ama-xanthomas).
• Umchamo omnyama.

Lokhu kulimala kwesibindi kwenzeka ngoba imisele yenyongo ayikho, imincane, noma ayimile kahle. Le misele yenyongo ithwala inyongo, uketshezi olusiza ekugayeni amafutha, kusukela esibindini kuya enyongweni kanye namathumbu amancane. Uma le misele ingasebenzi kahle, inyongo iyanqwabelana esibindini. Isibindi asikwazi ukwenza umsebenzi waso kahle, okuwukususa imfucuza egazini.

Ngenxa yokuthi umzimba awukwazi ukumunca kahle amafutha kanye namavithamini athile (ikakhulukazi u-A, u-D, u-E, no-K), kungase kube nezimpawu ezengeziwe:

• Ubuthakathaka bamathambo.
• Ukukhula okunciphile, akukho ukukhuphuka kokuphakama.
• Izinkinga zokubona (ikakhulukazi ezithinta i-cornea kanye ne-retina).
• Izinkinga ngokulinganisela komzimba kanye nokunyakaza.
• Ukuthambekela kokugoba kwegazi.
• Ukulibaziseka kokukhula.
• Ukulimala kwesibindi (i-cirrhosis).

Cishe abantu abayi-15% abane-Alagille Syndrome basengozini yokuthola izimo ezisongela ukuphila njengesifo sesibindi esibi kanye nokwehluleka kwesibindi.

Izimpawu ezihlobene nenhliziyo

I-Alagille Syndrome ingathinta nenhliziyo kanye nokusebenza kwayo. Lokhu kusho ukuthi:

• I-stenosis yemithambo yegazi yamaphaphu ukuncishiswa komthambo wegazi othwala igazi lisuka enhliziyweni liye emaphashini.
• Izinguquko esakhiweni senhliziyo. Isibonelo, imbobo ephakathi kwamakamelo amabili aphansi enhliziyo (i-ventricular septal defect), noma ukuncishiswa kwepayipi elithwala igazi liye emaphashini, imbobo phakathi kwamakamelo enhliziyo, ushintsho endaweni yomthambo wegazi oyinhloko (i-aorta), kanye ne-ventricle yesokudla ekhulisiwe (i-tetralogy of Fallot).
• Imisindo yenhliziyo engavamile (ukububula kwenhliziyo).
• Ukushintsha kombala wesikhumba (i-cyanosis) ngenxa yamazinga aphansi omoya-mpilo egazini.

Izici ezibonakalayo ebusweni nasemzimbeni

Izingane ezizalwa zine-Alagille Syndrome zinezimpawu eziningana ezihlukile zobuso:

• Ibanga eliphakathi kwamehlo libanzi, amehlo ajulile.
• Isilevu esibukhali, esicacile.
• Ibunzi elikhulu.

Ezinye izimpawu ezingabonakala emzimbeni yilezi:

• Ukukhubazeka kwamathambo. Isibonelo, amathambo e-butterfly.
• Ingozi yokopha kanye nesifo sohlangothi ebuchosheni ngenxa yokuphazamiseka kwemithambo yegazi ebuchosheni.
• Ukuncipha kancane kancane komthambo omkhulu ebuchosheni (i-Moyamoya syndrome).
• Izinkinga zezinso (ukuncipha, ama-cyst, ukusebenza okulinganiselwe).
• I-pancreas ayikwazi ukuphula kahle futhi imunce izakhamzimba ekudleni.

Ingabe i-Alagille Syndrome iyawathinta amakhono engqondo?

Cishe u-2% wezingane ezine-Alagille Syndrome zinokukhubazeka kwengqondo . Kodwa-ke, ezinye izingane (cishe u-16%) zingase zibe nokubambezeleka okuncane ekuthuthukiseni izinyathelo ezinkulu zokunyakaza, njengokuhamba. Kodwa-ke, lokhu akusikho ukukhubazeka kwengqondo.

Yini ebangela i-Alagille Syndrome?

Ezimweni eziningi, amacala angaphezu kuka-90% e-Alagille Syndrome abangelwa inkinga nge-gene JAG1. Lokhu kungaba ukuguquka kwe-gene noma ukususwa. Amanye ama-2% kuya ku-3% anokuguquka kwe-gene NOTCH2. Kodwa-ke, cishe kuma-3% amacala, imbangela eqondile ye-genetic ayaziwa.

Lezi zakhi zofuzo, ezibizwa ngokuthi `JAG1` kanye `NOTCH2`, ziyala amangqamuzana ethu ukuthi akhiqize amaprotheni adingekayo ukwakha izingxenye ezahlukene zomzimba ngesikhathi sesigaba sombungu. Uma kukhona ukuguquka kwalezi zakhi zofuzo ezimbili, noma uma kukhona ukulahleka kwezinto zofuzo engxenyeni ye-chromosome 20 lapho kutholakala khona i-`JAG1` gene, amangqamuzana awatholi leyo miyalelo ngendlela efanele. Lokhu kwenzeka lapho kuvela izimpawu ezifana nokukhubazeka kwesakhiwo enhliziyweni, ukuvaleka kwemigudu ye-bile, kanye nokukhubazeka kwamathambo.

I-Alagille Syndrome ihlolwa kanjani?

Kungaba nzima ukuxilonga i-Alagille Syndrome ngoba izimpawu ziyahlukahluka kumuntu nomuntu. Ukuxilonga kuqala ngomlando ophelele wezokwelapha kanye nokuhlolwa okuphelele kwezimpawu zakho. Udokotela angase asole i-Alagille Syndrome uma unezimpawu okungenani ezintathu kwezilandelayo:

• Izimo ezingavamile zemibhobho yenyongo.
• Isifo sesibindi noma ukuvaleka kokugeleza kwenyongo (i-cholestasis).
• Isifo senhliziyo.
• Ukukhubazeka kwamathambo.
• Izinkinga zokubona.
• Izici zobuso ezihlukile.

Kuyenziwa izivivinyo eziningana ukuqinisekisa ukuxilongwa:

• Ukuthatha ingxenye encane yesibindi ukuze iyohlolwa (i-biopsy yesibindi).
• Ukuhlolwa kwegazi.
• Ukuhlolwa kwamehlo.
• I-X-ray yomgogodla.
• I-ultrasound yesisu kanye/noma yenhliziyo.
• Ukuhlolwa kofuzo.
• Ukuhlolwa kokusebenza kwezinso.
• Ukuhlolwa kokusebenza kwe-pancreas.

Ngingazi kanjani ukuthi ingane yami ine-Alagille Syndrome noma i-Biliary Atresia?

I-Alagille Syndrome kanye ne-Biliary Atresia zinezimpawu ezifanayo. Ku-Alagille Syndrome, ukugeleza kwe-bile ngemisele ye-bile kuya emathunjini amancane kuyavinjelwa, futhi i-bile iyanqwabelana esibindini. I-Biliary Atresia ibangelwa futhi ukulimala noma ukuqhekeka kwemisele ye-bile, okungabangela izimpawu ezifanayo. Izingane ezisanda kuzalwa zingase zibe nezimpawu ezifanayo kuzo zombili izimo:

• Umchamo onombala omnyama.
• Izitulo ezinombala okhanyayo.
• Ukuqunjelwa kwesisu.
• I-jaundice iyaqhubeka amasonto ambalwa ngemva kokuzalwa.

Izinsana ezine-biliary atresia zingase zibe nezinye izinkinga zokuzalwa, njenge-Alagille Syndrome, kanye nokukhubazeka kwenhliziyo, izinso, kanye ne-spleen. Ezinye izifundo zibonise ukuthi i-gene efanayo ebizwa ngokuthi i-JAG1 ebangela i-Alagille Syndrome ingase ihileleke ku-biliary atresia.

Ngenxa yokuthi i-biliary atresia ivame kakhulu kune-Alagille syndrome, futhi ngenxa yokuthi akuyona yonke imiphumela ye-Alagille syndrome ebonakala ebuntwaneni, odokotela bangase baqale basole ukuthi i-biliary atresia iyatholakala. Kodwa-ke, ukwelashwa kwazo zombili izimo kuyafana kakhulu . Uma ingane yakho kamuva iba nezinye izimpawu ze-Alagille syndrome, ingatholakala ngaleso sikhathi.

Iphathwa kanjani i-Alagille Syndrome?

Akukho ukwelashwa okuqondile kwalesi simo okwamanje.Ngakho-ke, ukwelashwa kuhloswe ukulawula izimpawu ezivelayo. Okusho ukuthi, ukwelashwa kunqunywa yizimpawu. Okulandelayo kungenziwa njengokwelashwa:

• Ukuhlinzeka ngamavithamini A, D, E kanye no-K.
• Ukunikeza izinsana ifomula equkethe "ama-triglyceride aphakathi nendawo" angamunca kahle izakhamzimba.
• Ukondla ngepayipi le-gastrostomy noma ipayipi le-nasogastric ukuze kuhanjiswe ukudla ngqo ohlelweni lokugaya ukudla.
• Ukuhlinzeka ngemithi (i-ursodeoxycholic acid) elapha izifo zesibindi.
• Ukusetshenziswa kwemithi yokwelapha ukulunywa (isib. ama-antihistamine, i-cholestyramine, i-naltrexone, i-rifampin) kanye nama-moisturizer noma ama-lotion ukuze kufakwe umswakama esikhumbeni.
• Ukwehliswa kwenyongo ngokwengxenye inqubo yokuhlinzwa yokushintsha indlela yenyongo phakathi kwesibindi nomgudu wamathumbu.
• Ukuhlinzwa kwezimo ezithinta inhliziyo, imithambo yegazi kanye nezinso.

Uma i-Alagille Syndrome ibangela ukulimala okukhulu kwesibindi kanye nokwehluleka kwesibindi, kungadingeka ukufakelwa isibindi.

Ngingaphila kanjani futhi ngilawule kanjani izimpawu zami?

Ngenxa yokuthi izimpawu zihlukile kuwo wonke umuntu onalesi simo, udokotela wakho uzonquma ukuthi yikuphi ukwelashwa okufanele wena. Kubalulekile ukuhlolwa njalo ukuze kuhlolwe impilo yenhliziyo yakho nesibindi. Uma udokotela wakho eqala ukwelashwa okusha, kuzodingeka ubone udokotela wakho futhi emavikini ambalwa ukuze abone ukuthi kusebenza kahle kangakanani nokuthi yimiphi imiphumela emibi eba nayo. Ukwelashwa okuningi kusebenza ngokunciphisa izimpawu, kukusize uzizwe ungcono, nokuvimbela izinkinga ezinkulu nezisongela ukuphila.

Ingabe i-Alagille Syndrome ingavinjelwa?

Njengoba lesi kuyisimo esibangelwa izinguquko zofuzo, ayikho indlela yokusivimbela . Uma othile emndenini wakho ene-Alagille Syndrome, noma uma ulindele umntwana futhi ufuna ukwazi ngengozi yakho yokudlulisela lesi simo sofuzo enganeni yakho, khuluma nodokotela wakho mayelana nokuhlolwa kofuzo.

Hlobo luni lwekusasa umuntu one-Alagille Syndrome angalulindela?

Akukho ukwelashwa okuqondile kwe-Alagille Syndrome, njengoba kuyisimo sokuphila konke . Ukwelashwa kuhloselwe ukulawula izimpawu, ukunikeza induduzo, nokuvimbela izinkinga ezisongela ukuphila.

Kubaluleke kakhulu ukuhlonza lesi simo kusenesikhathi bese uqala ukwelashwa. Lokhu kunganciphisa imiphumela.

Abantu abanesifo sesibindi esibi kanye nesifo senhliziyo bangase babe nesikhathi sokuphila esifushane. Kodwa-ke, manje kunezindlela eziningi zokwelapha ezingasiza ekuguquleni lesi simo.

Abantu abane-Alagille Syndrome kufanele babone odokotela babo njalo ukuze bahlolwe njalo . Lokhu kungasiza ekunqumeni ukuthi lesi simo sibangela izimpawu ezisongela ukuphila nokuthi ukwelashwa kusebenza kahle kangakanani. Ukuhlolwa njalo kungafaka:

• Ukuhlolwa kwenhliziyo nge-ultrasound (i-echocardiogram).
• Ukuhlolwa kwesisu nge-ultrasound (isibindi nezinso).
• Ukuhlolwa kwamehlo kwaminyaka yonke.
• I-MRI scan yemithambo yegazi yobuchopho.

Ingakanani iminyaka yokuphila komuntu one-Alagille Syndrome?

Iningi labantu abanezimpawu ezincane ze-Alagille Syndrome bangaphila isikhathi esijwayelekile sokuphila . Kodwa-ke, labo abanezimpawu ezinzima bangase babe nesikhathi sokuphila esinciphile.

Khuluma nodokotela wakho ngezimpawu zakho. Uzovame uku-oda ukuhlolwa ukuze kuhlolwe ukuthi izitho zakho zangaphakathi zisebenza kanjani. Umgomo oyinhloko wokwelashwa ukuvimbela izimpawu ezisongela ukuphila.

Kufanele ngimbone nini udokotela wami?

Uma utholakale une-Alagille Syndrome futhi uhlangabezana nanoma yiziphi zalezi zimpawu zokulimala kwesibindi, bona udokotela ngokushesha:

• Uma isikhumba sakho kanye/noma amehlo akho ephenduka aphuzi.
• Uma isikhumba siluma kakhulu ngaphandle kwesizathu esithile.
• Uma kubonakala ama-fat deposits (izigaxa eziphuzi) ebusweni besikhumba.
• Uma umchamo wakho umnyama kunokuvamile.

Uma ubhekene nanoma yiziphi izimpawu ze-Alagille Syndrome ezenza kube nzima ngawe ukwenza imisebenzi yakho yansuku zonke, bona udokotela wakho ngokushesha. Kubalulekile futhi ukwazisa udokotela wakho uma ingane yakho ene-Alagille Syndrome ibonisa noma yiziphi izigaba zokukhula ngesikhathi isencane noma isencane.

Kufanele ngiye nini eMnyangweni Wezimo Eziphuthumayo (i-ETU) ?

I-Alagille Syndrome ingabangela izimpawu zenhliziyo ezisongela impilo . Uma unezinye zalezi zimpawu, iya ekamelweni eliphuthumayo ngokushesha:

• Uma ukushaya kwenhliziyo yakho kungajwayelekile.
• Uma unenkinga yokuphefumula.
• Uma isikhumba sakho, izindebe, noma izinzipho zibonakala ziluhlaza okwesibhakabhaka.

Amanye amacala e-Alagille Syndrome asengozini enkulu yokushaywa yisifo sohlangothi. Uma uhlangabezana nanoma yiziphi zalezi zimpawu zokushaywa yisifo sohlangothi, shayela u-911 ngokushesha (noma uye ekamelweni lezimo eziphuthumayo eliseduze nawe):

• Uma uzizwa ungenamizwa ohlangothini olulodwa lomzimba wakho.
• Uma unenkinga yokukhuluma, noma uma amazwi akho ebhajwa.
• Uma kukhona ushintsho olusheshayo emehlweni.
• Isiyezi, ukulahlekelwa yibhalansi, izinkinga zokuxhumanisa.
• Ikhanda elibuhlungu kakhulu.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma ubona udokotela wakho, ungabuza imibuzo efana nale:

• Zingakanani izimpawu zami?
• Ingabe ngizodinga ukuhlinzwa?
• Kufanele ngibuye nini ukuze ngibone ukuthi ukwelashwa kuphumelele kangakanani?
• Yimiphi imiphumela emibi yokwelashwa okunikezile?

Khumbula, i-Alagille Syndrome ayithinti wonke umuntu ngendlela efanayo. Abanye abantu bangase babe nezimpawu ezincane kakhulu, kanti abanye bangase babe nezimpawu ezinzima ezidinga ukwelashwa okwengeziwe noma ukuhlinzwa. Ngakho-ke sebenzisana eduze nodokotela wakho ukuze uthole ukunakekelwa okudingayo. Kubalulekile ukuhambisana nokuhlolwa kwakho njalo ukuze uphathe imiphumela emibi kanye nezimpawu ezingase zisongele impilo.

Umlayezo Wokuya Nawe Ekhaya

I-Alagille Syndrome yisimo esibangelwa ufuzo. Sithinta kakhulu isibindi nenhliziyo. Izimpawu zingahluka kumuntu nomuntu. Nakuba kungekho ikhambi, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu nokuvimbela izinkinga ezisongela ukuphila. Ukuxilongwa nokwelashwa kusenesikhathi kubalulekile, futhi kufanele ulandele iseluleko sikadokotela wakho. Uma wena noma ingane yakho ninayo yalezi zimpawu, ningesabi ukubona udokotela nithole usizo. Khumbula, awuwedwa, futhi kunodokotela nabathandekayo abangakusiza kulolu hambo.

I- Alagille Syndrome, Izifo Zofuzo, Izifo Zesibindi, Izifo Zenhliziyo, Izifo Zezingane, I-Jaundice