Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tikambirane za matenda a Alagille!

Kodi munayamba mwaganizapo kuti nthawi zina matenda ena omwe ana athu amakumana nawo amakhala ovuta pang'ono? Vuto limodzi lotere lomwe limafuna chisamaliro pang'ono, koma lingathe kuthetsedwa ngati muli ndi kumvetsetsa koyenera , limatchedwa Alagille Syndrome. Imeneyi imadziwikanso kuti Alagille-Watson syndrome. Imeneyi ndi matenda a majini, kutanthauza kuti ndi chinthu chomwe timalandira kuchokera kwa makolo athu. Chimakhudza kwambiri chiwindi ndi mtima wathu. Komabe, ziwalo zina za thupi zimathanso kukhudzidwa. Tiyeni tikambirane za izi mwatsatanetsatane, sichoncho?

Kodi kwenikweni Alagille Syndrome ndi chiyani?

Mwachidule, Alagille Syndrome ndi matenda obadwa nawo . Izi zitha kusokoneza magwiridwe antchito a chiwindi chathu, komanso kuyambitsa kusintha ndi zofooka zina mu kapangidwe ka mtima, kutanthauza momwe mtima umapangidwira. Ana ena obadwa ndi vutoli amakhala ndi mawonekedwe osiyanasiyana. Mavuto ena omwe angabwere chifukwa cha izi akhoza kukhala oopsa komanso oopsa. Ichi ndichifukwa chake ndikofunikira kwambiri kudziwa izi.

Kodi matenda a Alagille amakhudza ziwalo ziti za thupi?

Tanena kale kuti izi zimakhudza kwambiri chiwindi ndi mtima. Koma, si zokhazo. Zingakhudzenso kukula kwa ziwalo zina zofunika m'thupi lanu. Izi ndi izi:

• Mtima: Mavuto a ma valve a mtima ndi mitsempha yamagazi amatha kuchitika.
• Impso: Zinthu monga kuchepa kwa impso ndi kupangika kwa ma cysts.
• Pancreas: Ntchito ya kapamba, yomwe imathandiza pakugaya chakudya, ingasokonezedwenso.
• Maso: Kulephera kuwona bwino.
• Chigoba: Kusintha kwina kwa mafupa, monga msana.
• Mitsempha yamagazi: Mavuto amathanso kuchitika m'mitsempha yamagazi ya ubongo.

Ndani angadwale vutoli? Kodi ndi lofala bwanji?

Matenda a Alagille ndi matenda a majini . Izi zikutanthauza kuti ngati mwana alandira jini kuchokera kwa mayi kapena bambo, mwanayo akhoza kukhala ndi zizindikiro izi. Madokotala amatcha izi kuti ndi "autosomal dominant pattern" ya cholowa. Izi zikutanthauza kuti ngakhale m'modzi mwa makolo ali ndi jini, mwanayo akhoza kukhalabe ndi vutoli. Nthawi zambiri, pakati pa 30% ndi 50% ya milandu imafalikira kuchokera kubanja kupita kubanja mwanjira iyi.

Komabe, nthawi zina zimatha kufalikira mwa munthu watsopano, ngakhale palibe m'banjamo amene wakhalapo ndi vutoli kale. Izi zikutanthauza kuti likhoza kuonekera popanda mbiri ya m'banja.

Ponena za momwe izi zilili zofala, akuti vutoli limakhudza pafupifupi munthu m'modzi mwa anthu 30,000 mpaka 45,000.Koma iyi si kuchuluka koyenera, chifukwa nthawi zina imatha kusapezeka, kapena ikhoza kusokonezedwa ndi matenda ena chifukwa zizindikiro zoopsa kwambiri zokha ndi zomwe zimachiritsidwa.

Kodi matenda a Alagille amakhudza bwanji thupi langa?

Zizindikiro za Alagille Syndrome zimasiyana malinga ndi munthu. Izi zikutanthauza kuti si aliyense amene ali ndi vutoli amene ali ndi zizindikiro zomwezo. Chomwe chimachitika n'chakuti ducts za bile m'chiwindi chathu sizikukula bwino. Zimakhala zazifupi kwambiri, zopapatiza, kapena zili ndi ducts zochepa za bile. ducts izi ndi zomwe zimanyamula ndulu yopangidwa m'chiwindi - madzi omwe amathandiza kugaya mafuta omwe timadya - kupita ku ndulu ndi m'matumbo ang'onoang'ono. Chifukwa chake, ducts izi zikasiya kugwira ntchito bwino, ndulu imagwidwa m'chiwindi. Kenako chiwindi chimayamba kuwonongeka .

Mofananamo, izi zimakhudzanso mtima. Monga momwe njira zotulutsira ndulu zimakhalira zopapatiza, ma valve a mtima ndi mitsempha yamagazi zimatha kukhala zopapatiza ndipo kusintha kungachitike. Izi zitha kusokoneza kuyenda kwa magazi kuchokera mumtima kupita ku thupi lonse, ndipo mpweya sungaperekedwe bwino.

Kodi zizindikiro za Alagille Syndrome ndi ziti?

Zizindikiro zimenezi nthawi zambiri zimawonekera ali aang'ono kapena ali ana aang'ono . Komabe, sizingawonekere mpaka munthu atakula. Kuopsa kwa zizindikirozi kumatha kusiyana ngakhale m'banja lomwelo.

Zizindikiro zokhudzana ndi chiwindi

Tauzidwa kuti Alagille Syndrome ingayambitse kuwonongeka kwa chiwindi. Chiwindi chikawonongeka, mungaone zizindikiro monga izi:

• Kuoneka kwachikasu kwa khungu ndi maso - timatcha izi jaundice (kapena icterus).
• Khungu limayabwa kwambiri.
• Mafuta achikasu (monga zotupa) pakhungu (xanthomas).
• Mkodzo wakuda.

Kuwonongeka kwa chiwindi kumeneku kumachitika chifukwa chakuti njira zotulutsira ndulu sizikupezeka, zimakhala zochepa, kapena sizinapangidwe bwino. Njira zotulutsira nduluzi zimanyamula ndulu, madzi omwe amathandiza kugaya mafuta, kuchokera ku chiwindi kupita ku ndulu ndi matumbo ang'onoang'ono. Pamene njira zotulutsira nduluzi sizikugwira ntchito bwino, ndulu imasonkhana m'chiwindi. Chiwindi sichingathe kugwira ntchito yake bwino, yomwe ndi kuchotsa zinyalala m'magazi.

Popeza thupi silingathe kuyamwa bwino mafuta ndi mavitamini ena (makamaka A, D, E, ndi K), zizindikiro zina zingachitike:

• Kufooka kwa mafupa.
• Kukula kochepa, palibe kuwonjezeka kwa kutalika.
• Mavuto a masomphenya (makamaka omwe amakhudza cornea ndi retina).
• Mavuto okhudzana ndi kuyenda bwino kwa thupi.
• Chizolowezi cha magazi kuundana.
• Kuchedwa kwa chitukuko.
• Zilonda za chiwindi (cirrhosis).

Pafupifupi 15% ya anthu omwe ali ndi Alagille Syndrome ali pachiwopsezo chotenga matenda oopsa monga matenda a chiwindi komanso kulephera kwa chiwindi.

Zizindikiro zokhudzana ndi mtima

Matenda a Alagille angakhudzenso mtima ndi ntchito yake. Izi zikutanthauza:

• Kuchepa kwa mitsempha yamagazi m'mapapo ndi kuchepa kwa mitsempha yamagazi yomwe imanyamula magazi kuchokera mumtima kupita m'mapapo.
• Kusintha kwa kapangidwe ka mtima. Mwachitsanzo, dzenje pakati pa zipinda ziwiri zapansi pa mtima (ventricular septal defect), kapena kuchepetsedwa kwa chubu chomwe chimanyamula magazi kupita ku mapapo, dzenje pakati pa zipinda za mtima, kusintha kwa malo a mtsempha waukulu wamagazi (aorta), ndi ventricle yakumanja yokulirapo (tetralogy of Fallot).
• Kumveka kwa mtima kosazolowereka (kung'ung'udza kwa mtima).
• Kusanduka kwa buluu pakhungu (cyanosis) chifukwa cha mpweya wochepa m'magazi.

Zinthu zooneka pankhope ndi thupi

Ana obadwa ndi Alagille Syndrome ali ndi mawonekedwe osiyanasiyana a nkhope:

• Mtunda pakati pa maso ndi waukulu, maso ndi ozama kwambiri.
• Chibwano cholunjika, chowonekera bwino.
• Chiphumi chachikulu.

Zizindikiro zina zomwe zingawonekere m'thupi ndi izi:

• Matenda a mafupa. Mwachitsanzo, mafupa a gulugufe.
• Kuopsa kwa kutuluka magazi ndi sitiroko muubongo chifukwa cha zolakwika m'mitsempha yamagazi muubongo.
• Kuchepa pang'onopang'ono kwa mtsempha waukulu muubongo (Moyamoya syndrome).
• Mavuto a impso (kuchepa kwa mafupa, kutupa kwa ziwalo, kuchepa kwa ntchito ya impso).
• Pancreas silingathe kuswa bwino ndikuyamwa michere kuchokera muzakudya.

Kodi Alagille Syndrome imakhudza luso la maganizo?

Pafupifupi 2% ya ana omwe ali ndi Alagille Syndrome ali ndi zilema zamaganizo . Komabe, ana ena (pafupifupi 16%) amatha kuchedwa pang'ono pakukula kwa zikhalidwe zazikulu za thupi, monga kuyenda. Komabe, ichi si chilema chamaganizo.

Kodi n’chiyani chimayambitsa matenda a Alagille?

Nthawi zambiri, milandu yoposa 90% ya Alagille Syndrome imayamba chifukwa cha vuto la jini ya JAG1. Izi zitha kukhala kusintha kwa jini kapena kuchotsedwa. Ena 2% mpaka 3% ali ndi kusintha kwa jini ya NOTCH2. Komabe, pafupifupi 3% ya milandu, chifukwa chenicheni cha jini sichikudziwikabe.

Majini amenewa, otchedwa `JAG1` ndi `NOTCH2`, amalangiza maselo athu kupanga mapuloteni ofunikira kuti apange ziwalo zosiyanasiyana za thupi panthawi ya kukula kwa mwana wosabadwayo. Ngati pali kusintha kwa majini awiriwa, kapena ngati pali kutayika kwa majini mu gawo la chromosome 20 komwe kuli jini la `JAG1`, maselowo salandira malangizo amenewo moyenera. Apa ndi pamene zizindikiro monga zolakwika m'thupi, kuchepa kwa ndulu, ndi zolakwika m'mafupa zimawonekera.

Kodi matenda a Alagille amawapeza bwanji?

Matenda a Alagille Syndrome angakhale ovuta kuwazindikira chifukwa zizindikiro zimasiyana malinga ndi munthu. Kuzindikira kumayamba ndi mbiri yonse yachipatala komanso kufufuza bwino zizindikiro zanu. Dokotala angakayikire kuti muli ndi matenda a Alagille Syndrome ngati muli ndi zizindikiro zitatu mwa izi:

• Mawonekedwe osazolowereka a ndulu.
• Matenda a chiwindi kapena kutsekeka kwa kutuluka kwa ndulu (cholestasis).
• Matenda a mtima.
• Matenda a mafupa.
• Mavuto a masomphenya.
• Mawonekedwe apadera a nkhope.

Mayeso angapo amachitika kuti atsimikizire matendawa:

• Kutenga chidutswa chaching'ono cha chiwindi kuti chikafufuzidwe (biopsy ya chiwindi).
• Kuyezetsa magazi.
• Kuyezetsa maso.
• X-ray ya msana.
• Ultrasound ya m'mimba ndi/kapena mtima.
• Kuyesa majini.
• Mayeso a ntchito ya impso.
• Mayeso a ntchito ya kapamba.

Kodi ndingadziwe bwanji ngati mwana wanga ali ndi Alagille Syndrome kapena Biliary Atresia?

Matenda a Alagille ndi Biliary Atresia ali ndi zizindikiro zofanana. Mu matenda a Alagille, kutuluka kwa ndulu kudzera m'mitsempha ya ndulu kupita m'matumbo ang'onoang'ono kumakhala kochepa, ndipo ndulu imasonkhana m'chiwindi. Biliary Atresia imayambanso chifukwa cha kuwonongeka kapena zipsera za mitsempha ya ndulu, zomwe zingayambitse zizindikiro zomwezo. Ana obadwa kumene amatha kukhala ndi zizindikiro zofanana m'mikhalidwe yonse iwiri:

• Mkodzo wakuda.
• Zopondapo zowala.
• Kutupa m'mimba.
• Jaundice imapitirira kwa milungu ingapo mwana atabadwa.

Makanda omwe ali ndi vuto la biliary atresia angakhalenso ndi zilema zina zobadwa nazo, monga Alagille Syndrome, komanso matenda a mtima, impso, ndi ndulu. Kafukufuku wina wasonyeza kuti jini lomweli lotchedwa JAG1 lomwe limayambitsa Alagille Syndrome likhoza kukhala ndi vuto la biliary atresia.

Popeza biliary atresia ndi yofala kwambiri kuposa Alagille syndrome, ndipo chifukwa chakuti si zotsatira zonse za Alagille syndrome zomwe zimaonekera ali mwana, madokotala angayambe kukayikira kuti biliary atresia ndi yoipa. Komabe, chithandizo cha matenda onsewa chimakhala chofanana . Ngati mwana wanu atakhala ndi zizindikiro zina za Alagille syndrome pambuyo pake, amatha kuzindikirika panthawiyo.

Kodi matenda a Alagille amachiritsidwa bwanji?

Palibe mankhwala enieni a vutoli pakadali pano.Chifukwa chake, chithandizo chimayang'ana kwambiri kuwongolera zizindikiro zomwe zimabuka. Izi zikutanthauza kuti, chithandizo chimadalira zizindikiro. Zotsatirazi zitha kuchitika ngati chithandizo:

• Kupereka mavitamini A, D, E ndi K.
• Kupatsa makanda mkaka wokhala ndi "triglycerides yapakati" yomwe imatha kuyamwa bwino michere.
• Kudya kudzera mu chubu cha gastrostomy kapena chubu cha nasogastric kuti chakudya chifike mwachindunji m'mimba.
• Kupereka mankhwala (ursodeoxycholic acid) omwe amachiritsa matenda a chiwindi.
• Kugwiritsa ntchito mankhwala pochiza kuyabwa (monga antihistamines, cholestyramine, naltrexone, rifampin) ndi mafuta odzola kapena mafuta odzola kuti khungu likhale lonyowa.
• Kuchotsa ndulu pang'ono ndi njira yochitira opaleshoni yosintha njira ya ndulu pakati pa chiwindi ndi matumbo.
• Opaleshoni ya matenda okhudza mtima, mitsempha yamagazi, ndi impso.

Ngati Alagille Syndrome imayambitsa kuwonongeka kwakukulu kwa chiwindi ndi kulephera kwa chiwindi, kuikidwa chiwindi kungafunike.

Kodi ndimakhala bwanji ndi zizindikiro zanga ndikuzisamalira?

Popeza zizindikiro zimasiyana kwa aliyense amene ali ndi vutoli, dokotala wanu adzasankha chithandizo chomwe chili choyenera kwa inu. Ndikofunikira kuyesedwa pafupipafupi kuti muwone thanzi la mtima wanu ndi chiwindi chanu. Ngati dokotala wanu akuyambani kulandira chithandizo chatsopano, muyenera kuwonanso dokotala wanu pakatha milungu ingapo kuti muwone momwe chikugwirira ntchito komanso zotsatira zake. Mankhwala ambiri amagwira ntchito pochepetsa zizindikiro, kukuthandizani kumva bwino, komanso kupewa mavuto akuluakulu komanso oopsa.

Kodi Alagille Syndrome ingapewedwe?

Popeza vutoli limayamba chifukwa cha kusintha kwa majini, palibe njira yopewera . Ngati wina m'banja mwanu ali ndi Alagille Syndrome, kapena ngati mukuyembekezera mwana ndipo mukufuna kudziwa chiopsezo chanu chopatsira mwana wanu vutoli, lankhulani ndi dokotala wanu za kuyezetsa majini.

Kodi munthu amene ali ndi Alagille Syndrome angayembekezere tsogolo lotani?

Palibe mankhwala enieni a Alagille Syndrome, chifukwa ndi vuto lomwe limakhalapo kwa moyo wonse . Chithandizo chake ndi chowongolera zizindikiro, kupereka chitonthozo, komanso kupewa mavuto omwe angawononge moyo.

Ndikofunikira kwambiri kuzindikira vutoli pachiyambi ndikuyamba kulandira chithandizo. Izi zingachepetse zotsatira zake.

Anthu omwe ali ndi matenda aakulu a chiwindi ndi matenda a mtima akhoza kukhala ndi moyo wautali. Komabe, tsopano pali mankhwala ambiri omwe angathandize kuthetsa vutoli.

Anthu omwe ali ndi Alagille Syndrome ayenera kupita kwa madokotala awo pafupipafupi kuti akapimidwe nthawi zonse . Izi zingathandize kudziwa ngati vutoli likuyambitsa zizindikiro zoopsa komanso momwe chithandizo chilili chothandiza. Kuwunika pafupipafupi kungaphatikizepo:

• Kuwunika mtima ndi ultrasound (echocardiogram).
• Ultrasound ya mimba (chiwindi ndi impso).
• Kuyezetsa maso kwa chaka chilichonse.
• Kujambula kwa MRI kwa mitsempha yamagazi ya ubongo.

Kodi munthu amene ali ndi Alagille Syndrome amakhala ndi moyo wautali bwanji?

Anthu ambiri omwe ali ndi zizindikiro zochepa za Alagille Syndrome amatha kukhala ndi moyo wabwinobwino . Komabe, omwe ali ndi zizindikiro zazikulu amatha kukhala ndi moyo wocheperako.

Lankhulani ndi dokotala wanu za zizindikiro zanu. Nthawi zambiri amalamula mayeso kuti awone momwe ziwalo zanu zamkati zikugwirira ntchito. Cholinga chachikulu cha chithandizo ndikupewa zizindikiro zomwe zingawononge moyo.

Ndiyenera kupita liti kwa dokotala wanga?

Ngati mwapezeka ndi Alagille Syndrome ndipo mwakumana ndi zizindikiro izi za kuwonongeka kwa chiwindi, pitani kwa dokotala nthawi yomweyo:

• Ngati khungu lanu ndi/kapena maso anu asintha kukhala achikasu.
• Ngati khungu likuyabwa kwambiri popanda chifukwa chenicheni.
• Ngati mafuta ochulukirapo (matumphuka achikasu) akuwoneka pamwamba pa khungu.
• Ngati mkodzo wanu uli wakuda kuposa wamba.

Ngati mukukumana ndi zizindikiro zilizonse za Alagille Syndrome zomwe zikukulepheretsani kuchita ntchito zanu za tsiku ndi tsiku, pitani kwa dokotala nthawi yomweyo. Ndikofunikiranso kudziwitsa dokotala wanu ngati mwana wanu yemwe ali ndi Alagille Syndrome akuwonetsa zochitika zilizonse zakukula ali wakhanda kapena ali mwana.

Kodi ndiyenera kupita ku Dipatimenti Yothandiza Anthu Odwala Pangozi (ETU) liti?

Matenda a Alagille angayambitse zizindikiro za mtima zomwe zingawopseze moyo . Ngati muli ndi zizindikiro izi, pitani kuchipatala mwamsanga:

• Ngati kugunda kwa mtima kwanu sikukuyenda bwino.
• Ngati mukuvutika kupuma.
• Ngati khungu lanu, milomo, kapena misomali yanu ikuoneka yabuluu.

Matenda ena a Alagille Syndrome ali pachiwopsezo chachikulu cha sitiroko. Ngati mukukumana ndi zizindikiro izi za sitiroko, imbani 911 nthawi yomweyo (kapena pitani ku chipinda chadzidzidzi chapafupi nanu):

• Ngati mukumva dzanzi mbali imodzi ya thupi lanu.
• Ngati mukuvutika kulankhula, kapena ngati mawu anu alephera.
• Ngati pali kusintha kwadzidzidzi kwa masomphenya.
• Chizungulire, kulephera kulinganiza bwino zinthu, mavuto ogwirizana.
• Mutu woopsa kwambiri.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Mukapita kwa dokotala, mungafunse mafunso monga awa:

• Kodi zizindikiro zanga ndi zoopsa bwanji?
• Kodi ndikufunika opaleshoni?
• Kodi ndiyenera kubwerera liti kuti ndikaone momwe chithandizochi chagwirira ntchito?
• Kodi zotsatirapo zake za mankhwala omwe mwapereka ndi ziti?

Kumbukirani, Alagille Syndrome imakhudza anthu osiyanasiyana mosiyana. Anthu ena akhoza kukhala ndi zizindikiro zochepa kwambiri, pomwe ena akhoza kukhala ndi zizindikiro zoopsa zomwe zimafuna chithandizo chambiri kapena opaleshoni. Choncho gwirani ntchito limodzi ndi dokotala wanu kuti mupeze chithandizo chomwe mukufuna. Ndikofunikira kupitiliza kuyezetsa magazi kuti muthane ndi zotsatirapo zake komanso zizindikiro zomwe zingawopseze moyo.

Uthenga Wopita Nawo Kunyumba

Matenda a Alagille ndi matenda obadwa nawo. Amakhudza kwambiri chiwindi ndi mtima. Zizindikiro zimatha kusiyana malinga ndi munthu. Ngakhale kuti palibe mankhwala, pali mankhwala omwe angathandize kuchepetsa zizindikiro ndikupewa mavuto omwe angawononge moyo. Kuzindikira msanga ndi chithandizo ndikofunikira, ndipo muyenera kutsatira upangiri wa dokotala wanu. Ngati inu kapena mwana wanu muli ndi zizindikiro izi, musaope kupita kwa dokotala ndikupeza thandizo. Kumbukirani, simuli nokha, ndipo pali madokotala ndi okondedwa omwe angakuthandizeni paulendowu.

Matenda a Alagille, Matenda a Majini, Matenda a Chiwindi, Matenda a Mtima, Matenda a Ana, Jaundice