Kei tō tamaiti ēnei tohu? Me kōrero tātou mō te Alagille Syndrome!

Kua whakaarohia e koe i ētahi wā he uaua ētahi o ngā mate e pāngia ana e ā tātou tamariki? Āe, ko tētahi o ngā mate e hiahia ana kia āta tiakina, engari ka taea te whakahaere mēnā kei a koe te māramatanga tika , ko te Alagille Syndrome te ingoa. E mōhiotia ana hoki tēnei ko te Alagille-Watson Syndrome. He mate ira tēnei, arā, he mea tuku iho i ō tātou mātua. Ko te nuinga ka pā ki tō tātou ate me te ngākau. Heoi, ka pāngia hoki ētahi atu wāhanga o te tinana. Me kōrero taipitopito tātou mō tēnei, e tika ana?

He aha rawa te Alagille Syndrome?

He māmā noa iho, he mate ira te Alagille Syndrome. Ka taea e tēnei te whakararuraru i te mahi a tō tātou ate, me te whakaputa hoki i ētahi huringa me ngā ngoikore o te hanganga o te ngākau, arā, te āhua o te hanganga o te ngākau. He maha ngā āhuatanga motuhake o ētahi tamariki i whānau mai me tēnei mate. Ko ētahi o ngā raruraru ka puta mai i tēnei he tino morearea, ā, he morearea hoki ki te ora. Koia te mea he mea nui kia mōhio ki tēnei.

He aha ngā wāhanga o te tinana ka pāngia e te Alagille Syndrome?

Kua kōrero kē mātou ko te ate me te ngākau te nuinga o tēnei e pā ana. Engari, ehara i te mea koinā anake. Ka pā anō hoki ki te whanaketanga o ētahi atu okana nui o tō tinana. Ko ēnei:

• Manawa: Ka puta pea ngā raruraru ki ngā takirere manawa me ngā oko toto.
• Ngā whatukuhu: Ngā mea pēnei i te mimiti o te whatukuhu me te hanganga o te pukupuku.
• Te repe taiaki: Ka taea hoki te whakararuraru i te mahi a te repe taiaki, e āwhina ana i te tukanga nakunaku.
• Ngā Kanohi: He ngoikore te tirohanga.
• Angaiwi: Ko ētahi huringa o ngā wheua, pērā i te tuaiwi.
• Ngā uaua toto: Ka puta pea ngā raruraru i roto i ngā uaua toto o te roro.

Ko wai ka pāngia e tēnei mate? He pēhea te noa o tōna pānga?

He mate ira te Alagille Syndrome. Ko te tikanga, ki te riro i te tamaiti te ira mai i te whaea, i te pāpā rānei, ka pāngia pea te tamaiti e ēnei tohu. Ka kiia tēnei e ngā tākuta he tauira tuku iho "autosomal dominant". Ko te tikanga, ahakoa kei tētahi o ngā mātua te ira, ka taea tonu e te tamaiti te pāngia. I te nuinga o te wā, i waenga i te 30% me te 50% o ngā take ka tukuna iho i tēnei whānau.

Heoi, i ētahi wā ka pā mai tēnei mate ki tētahi tangata hou, ahakoa kāore anō kia pāngia tētahi o te whānau e tēnei mate i mua. Ko te tikanga ka puta mai tēnei mate me te kore he hītori whānau.

Mō te whānui o te horapa o tēnei mate, e kiia ana kotahi i roto i te 30,000 ki te 45,000 tāngata ka pāngia e tēnei mate.Engari ehara tēnei i te nui tika, nā te mea i ētahi wā ka kore e kitea he mate, ka pohehe rānei he mate kē atu nā te mea ko ngā tohu tino kino anake ka rongoātia.

He aha ngā pānga o te Alagille Syndrome ki tōku tinana?

He rerekē ngā tohu o te Alagille Syndrome i ia tangata, i ia tangata. Ko te tikanga, ehara i te mea ka rite ngā tohu o te katoa e pāngia ana e tēnei mate. Ko te mea ka tupu, kāore ngā awaawa aukume i roto i tō tātou ate e whanake tika. He poto rawa, he whaiti, he torutoru rānei ngā awaawa aukume. Ko ēnei awaawa aukume e kawe ana i te aukume i hangaia i roto i te ate – he wai e āwhina ana ki te keri i ngā ngako i roto i te kai e kainga ana e tātou – ki te pūkahukahu me te whekau iti. Nō reira, ina mutu te mahi tika o ēnei awaawa aukume, ka mau te aukume i roto i te ate. Kātahi ka tīmata te kino o te ate .

Waihoki, ka pā anō hoki tēnei ki te ngākau. Pērā i te whaiti haere o ngā awa toto, ka whaiti haere hoki ngā takirere ngākau me ngā oko toto, ā, ka puta he huringa. Ka whakararuraru pea tēnei i te rere o te toto mai i te ngākau ki te toenga o te tinana, ā, kāore pea e tukuna tika te hāora.

He aha ngā tohu o te Alagille Syndrome?

I te nuinga o te wā ka puta mai ēnei tohu i te wā pēpi, i te wā tamarikitanga rānei . Heoi, kāore pea e puta tae noa ki te pakeketanga. Ka rerekē pea te kaha o ngā tohu ahakoa i roto i te whānau kotahi.

Ngā tohu e pā ana ki te ate

Kua kōrerotia mai ki a mātou ka pā kino te mate Alagille ki te ate. Ina pakaru te ate, ka kitea pea e koe ēnei tohu:

• Te kōwhai o te kiri me ngā kanohi – e kīia ana tēnei he jaundice (he icterus rānei).
• Ka tino mākūkū te kiri.
• He kōwhai, he ngako momona (he rite ki ngā puku) kei runga i te mata o te kiri (xanthomas).
• Mimi pouri.

Ka puta tēnei kino o te ate nā te mea kua ngaro, kua whaiti, kua hē rānei te āhua o ngā awaawa au. Ka haria e ēnei awaawa au te au, he wai e āwhina ana ki te keri i ngā ngako, mai i te ate ki te pūkahukahu me te whekau iti. Ina kore e mahi tika ēnei awaawa, ka kohikohi te au i roto i te ate. Kāore e taea e te ate te mahi tika i tana mahi, arā, te tango i ngā para mai i te toto.

Nā te mea kāore e taea e te tinana te mimiti tika i ngā ngako me ētahi huaora (ina koa ko te A, D, E, me te K), ka puta pea ētahi atu tohu:

• Te ngoikore o te wheua.
• Ka iti te tipu, kāore e piki te teitei.
• Ngā raruraru tirohanga (inā koa ka pā ki te kornea me te retina).
• Ngā raruraru ki te taurite me ngā nekehanga o te tinana.
• Te āhua ki te toto totoka.
• Ngā whakaroa whanaketanga.
• Te whara o te ate (cirrhosis).

Tata ki te 15% o te hunga e pāngia ana e te Alagille Syndrome kei te mōrearea ki te whakawhanake i ngā āhuatanga morearea pērā i te mate ate kino me te ngoikore o te ate.

Ngā tohu e pā ana ki te ngākau

Ka pāngia hoki te ngākau me tana mahi e te Alagille Syndrome. Ko te tikanga tēnei:

• Ko te stenosis o te uaua pūkahukahu he whaiti o te oko toto e kawe ana i te toto mai i te ngākau ki ngā pukahukahu.
• Ngā panonitanga o te hanganga o te ngākau. Hei tauira, he kōhao i waenganui i ngā rūma o raro e rua o te ngākau (he hapa o te ventricular septal), he whaiti rānei o te ngongo e kawe ana i te toto ki ngā pukahukahu, he kōhao i waenganui i ngā rūma o te ngākau, he panonitanga o te tūranga o te uaua toto matua (aorta), me te ventricle matau kua rahi (tetralogy of Fallot).
• Ngā oro o te ngākau rerekē (ngā ngunguru o te ngākau).
• Te tae kikorangi o te kiri (cyanosis) nā te iti o te hāora i roto i te toto.

Ngā āhuatanga kitea i te mata me te tinana

He maha ngā āhuatanga motuhake o te kanohi o ngā tamariki i whānau mai me te Alagille Syndrome:

• He whānui te tawhiti i waenganui i ngā kanohi, he hohonu te tū o ngā kanohi.
• Kauae koi, mārama.
• Rae nui.

Ko ētahi atu tohu ka kitea i roto i te tinana ko:

• Ngā āhuatanga rerekē o te angaanga. Hei tauira, ngā tuaiwi pūrerehua.
• Te mōrearea o te toto me te whiu i roto i te roro nā ngā āhuatanga rerekē o ngā uaua toto o te roro.
• Te whaiti haere o tētahi uaua nui o te roro (te mate Moyamoya).
• Ngā raruraru tākihi (te mimiti, ngā pūngāwerewere, te iti o te mahi).
• Kāore e taea e te repe taiaki te wawahi tika me te mimiti i ngā matūkai mai i te kai.

Ka pāngia ngā pūkenga hinengaro e te Alagille Syndrome?

Tata ki te 2% o ngā tamariki e pāngia ana e te Alagille Syndrome he hauātanga hinengaro . Heoi, ko ētahi tamariki (tata ki te 16%) ka roa pea te whanaketanga o ngā tohu matua o te nekeneke tinana, pērā i te hikoi. Heoi, ehara tēnei i te hauātanga hinengaro.

He aha te take o te Alagille Syndrome?

I te nuinga o te wā, neke atu i te 90% o ngā take o te Alagille Syndrome ka puta mai i tētahi raruraru ki te ira JAG1. Tērā pea he whakarerekētanga ira tēnei i roto i te ira, he mukunga rānei. E 2% ki te 3% anō kei roto i te ira NOTCH2 tētahi whakarerekētanga. Heoi, mō te 3% pea o ngā take, kāore anō kia mōhiotia te tino take ira.

Ko ēnei ira, e kiia nei ko `JAG1` me `NOTCH2`, e tohutohu ana i ō tātou pūtau ki te whakaputa i ngā pūmua e hiahiatia ana hei hanga i ngā wāhanga rerekē o te tinana i te wā o te kukunetanga. Mena he whakarerekētanga i roto i ēnei ira e rua, mena rānei he ngaronga o ngā rauemi ira i te wāhanga o te ira 20 kei reira te ira `JAG1`, kāore ngā pūtau e whiwhi tika i aua tohutohu. Koinei te wā ka puta mai ai ngā tohu pēnei i ngā hapa hanganga o te ngākau, te whaiti o ngā awaawa au, me ngā rerekētanga o te angaanga.

Me pēhea te tautuhi i te Alagille Syndrome?

He uaua te tautuhi i te Mate Alagille nā ​​te mea he rerekē ngā tohu i ia tangata, i ia tangata. Ka tīmata te tautuhi i te mate mā te hītori hauora katoa me te tirotiro hōhonu i ō tohu. Tērā pea ka whakapae te tākuta i te Mate Alagille mēnā kei a koe kia toru o ēnei tohu e whai ake nei:

• Ngā āhua rerekē o ngā awaawa au.
• Te mate ate, te aukati rānei i te rere o te au (cholestasis).
• Mate ngakau.
• Ngā āhuatanga rerekē o te angaanga.
• Ngā raruraru tirohanga.
• Ngā āhuatanga kanohi motuhake.

He maha ngā whakamātautau e mahia ana hei whakaū i te mate:

• Te tango i tētahi wāhanga iti o te ate hei tirotiro (kopikopikotanga ate).
• Ngā whakamātautau toto.
• He whakamātautau kanohi.
• He hihi-X o te tuaiwi.
• He tirotiro oro-ā-ringa i te puku me/ranei te ngākau.
• He whakamātautau ira.
• Ngā whakamātautau mahi whatukuhu.
• Ngā whakamātautau mahi a te repeure.

Me pēhea taku mōhio mēnā kei taku pēpi te Alagille Syndrome, te Biliary Atresia rānei?

He rite tonu ngā tohu o te Alagille Syndrome me te Biliary Atresia. I roto i te Alagille Syndrome, ka herea te rere o te au i roto i ngā awa au ki roto i te whekau iti, ā, ka kohia te au i roto i te ate. Ka puta anō hoki te Biliary Atresia i te kino, i te whara rānei o ngā awa au, ka puta pea ngā tohu ōrite. Ka pā pea ngā pēpi hou ki ngā tohu ōrite i roto i ngā āhuatanga e rua:

• Te mimi pouri.
• Ngā tūtae tae mārama.
• Te pupuhi o te puku.
• Ka mau tonu te mate pāwera mō ētahi wiki i muri i te whānautanga.

Tērā pea he hapa whānau anō ō ngā pēpi e pāngia ana e te mate pūkahukahu biliary, pērā i te Alagille Syndrome, me ngā āhuatanga rerekē o te ngākau, ngā whatukuhu, me te whēkau. Kua whakaatuhia e ētahi rangahau ko te ira kotahi e kiia nei ko JAG1 e puta ai te Alagille Syndrome tērā pea ka uru ki te mate pūkahukahu biliary.

Nā te mea he nui ake te kitea o te atresia biliary i te mate Alagille, ā, nā te mea kāore e kitea katoatia ngā pānga o te mate Alagille i te wā pēpi, tera pea ka whakapae tuatahi ngā tākuta he atresia biliary. Heoi, he rite tonu te nuinga o te maimoatanga mō ngā āhuatanga e rua . Mena ka puta ake i muri mai ētahi atu tohu o te mate Alagille i tāu tamaiti, ka taea te tautuhi i taua wā tonu.

Me pēhea te rongoā i te Alagille Syndrome?

Kāore anō kia kitea he rongoā motuhake mō tēnei mate.Nō reira, ko te whāinga o te maimoatanga he whakahaere i ngā tohu e puta ake ana. Arā, ka whakatauhia te maimoatanga e ngā tohu. Ka taea te mahi i ēnei hei maimoatanga:

• Te whakarato i ngā huaora A, D, E me K.
• Te hoatu i te miraka miraka ki ngā pēpi kei roto ngā "triglycerides mekameka-waenga" ka taea te mimiti pai i ngā matūkai.
• Te whāngai mā roto i te ngongo gastrostomy, i te ngongo nasogastric rānei hei tuku tika i te kai ki roto i te pūnaha nakunaku.
• Te whakarato rongoā (waikawa ursodeoxycholic) hei rongoā i ngā mate ate.
• Te whakamahinga o ngā rongoā hei rongoā i te kati (hei tauira, ngā antihistamines, cholestyramine, naltrexone, rifampin) me ngā hinu whakamakuku, ngā hinu kiri rānei hei whakamakuku i te kiri.
• Ko te whakahurihanga ā-wāhanga o te ate he tikanga pokanga hei whakarerekē i te ara o te au i waenga i te ate me te ara whekau.
• Te pokanga mō ngā āhuatanga e pā ana ki te ngākau, ngā oko toto, me ngā whatukuhu.

Mena ka pāngia te ate e te Alagille Syndrome me te ngoikore o te ate, tera pea e hiahiatia he whakawhitinga ate.

Me pēhea taku noho me aku tohumate me te whakahaere?

Nā te mea he rerekē ngā tohu mō ia tangata e pāngia ana e tēnei mate, mā tō tākuta e whakatau ko tēhea maimoatanga te mea tika māu. He mea nui kia tirohia te hauora o tō ngākau me tō ate i ia wā. Mena ka tīmatahia e tō tākuta tētahi maimoatanga hou ki a koe, me toro atu anō koe ki tō tākuta i roto i ētahi wiki kia kite ai i te pai o te mahi me ngā pānga taha. Ko te nuinga o ngā maimoatanga ka mahi mā te whakaiti i ngā tohu, te āwhina i a koe kia pai ake te ahua, me te ārai i ngā raruraru kino, e morearea ana ki te ora.

Ka taea te ārai i te Alagille Syndrome?

I te mea he mate tēnei i puta mai i ngā huringa ira, kāore he huarahi hei ārai . Mena kei te pāngia tētahi o tō whānau e te Alagille Syndrome, kei te hapu rānei koe, ā, e hiahia ana koe ki te mōhio ki tō tūponotanga ki te tuku i te mate ira ki tāu tamaiti, kōrero ki tō tākuta mō ngā whakamātautau ira.

He aha te momo āpōpō ka taea e te tangata e pāngia ana e te Alagille Syndrome te tumanako?

Kāore he rongoā motuhake mō te Alagille Syndrome, nā te mea he mate mō te wā katoa . Ko te whāinga o te maimoatanga he whakahaere i ngā tohu, he whakamarie, he ārai hoki i ngā raruraru e morearea ana ki te ora.

He mea tino nui kia kitea tēnei mate i te wā tōmua, ā, kia tīmata te maimoatanga. Mā tēnei ka taea te whakaiti i ngā pānga.

He poto ake pea te roanga o te oranga o te hunga e pāngia ana e te mate ate kino me te mate manawa. Heoi, he maha ngā maimoatanga hei āwhina i te whakakore i tēnei āhuatanga.

Me toro atu te hunga whai Alagille Syndrome ki ā rātou tākuta i ia wā, i ia wā, mō ngā tirotiro auau . Mā tēnei ka āwhina ki te whakatau mēnā kei te puta ngā tohumate e morearea ana ki te ora, me te whai huatanga o te maimoatanga. Ko ngā tirotiro auau ka uru atu ki:

• He whakamātautau ultrasound o te ngākau (echocardiogram).
• He tirotiro ultrasound o te puku (te ate me ngā whatukuhu).
• Te whakamātautau kanohi ā-tau.
• He matawai MRI o ngā oko toto o te roro.

He aha te roanga o te oranga o te tangata e pāngia ana e te Alagille Syndrome?

Ko te nuinga o te hunga he ngawari ngā tohu o te Alagille Syndrome ka ora tonu i te roanga o te oranga . Heoi, ko te hunga he kino ngā tohu ka iti ake pea te roanga o te oranga.

Kōrero ki tō tākuta mō ō tohumate. He maha ngā wā ka tonoa e ia he whakamātautau hei tirotiro i te mahi a ō whekau o roto. Ko te whāinga matua o te maimoatanga he ārai i ngā tohumate e morearea ai te ora.

Āhea ahau me toro atu ki taku tākuta?

Mena kua tāpaetia koe kei te mate koe i te Alagille Syndrome, ā, ka pāngia koe e ēnei tohu o te kino o te ate, me toro atu ki te tākuta tonu:

• Mena ka kōwhai tō kiri, tō kanohi rānei.
• Mena ka tino mākūkū te kiri, kāore he take motuhake.
• Mena ka kitea ngā putunga ngako (ngā puku kōwhai) i runga i te mata o te kiri.
• Mena he pouri ake tō mimi i te mea noa.

Mena kei te pāngia koe e ētahi tohu o te Alagille Syndrome e whakauaua ana i a koe ki te mahi i ō mahi o ia rā, me toro atu ki tō tākuta tonu. He mea nui anō hoki kia whakamōhio atu koe ki tō tākuta mena kei te whakaatu tō tamaiti me te Alagille Syndrome i ētahi tohu whanaketanga i te wā pēpi, i te wā kōhungahunga rānei.

Āhea ahau me haere ki te Tari Whawhati Tata (ETU) ?

Ka taea e te Alagille Syndrome te whakararu i te manawa . Mena kei a koe ētahi o ēnei tohu, haere tonu ki te rūma whawhati tata:

• Mena he rerekē te tere o tō ngakau.
• Mena he uaua ki te manawa.
• Mena he kikorangi te āhua o tō kiri, ngutu, me ō maikuku.

Ko ētahi o ngā mate o te Alagille Syndrome ka nui ake te mōrearea o te whiu. Mena ka pāngia koe e tētahi o ēnei tohu o te whiu, waea atu ki te 911 tonu (haere rānei ki tō rūma whawhati tata):

• Mena ka rongo koe i te ngoikore i tetahi taha o tō tinana.
• Mena he uaua ki a koe te kōrero, ki te mau rānei ō kupu.
• Mena ka puta he panoni ohorere o te tirohanga.
• Pōuriuri, ngaro te taurite, raruraru taunga.
• He mamae nui te upoko.

He aha ngā pātai me pātai atu e au ki taku tākuta?

Ina kite koe i tō tākuta, ka taea e koe te pātai i ēnei pātai:

• Kia pēhea te kaha o aku tohumate?
• Me pokanga ahau?
• Āhea ahau me hoki mai ai ki te tirotiro i te angitu o te maimoatanga?
• He aha ngā pānga taha o ngā maimoatanga i whakaritea e koe?

Kia maumahara, kāore te Mate Alagille e pā ki te katoa i te huarahi kotahi. Tērā pea he tino ngawari ngā tohu o ētahi tāngata, ko ētahi he kino pea ngā tohu e hiahia ana kia nui ake te maimoatanga, te pokanga rānei. Nō reira, mahi tahi me tō tākuta kia whiwhi ai koe i te tiaki e hiahiatia ana e koe. He mea nui kia mau tonu ō whakamātautau auau hei whakahaere i ngā pānga taha me ngā tohu e morearea ana ki te ora.

Karere Tangohia ki te Kāinga

He mate ira te Alagille Syndrome. Ko te ate me te ngākau te mea nui ka pā ki tēnei mate. Ka rerekē ngā tohu i ia tangata, i ia tangata. Ahakoa kāore he rongoā, kei reira ngā maimoatanga hei āwhina i te whakahaere i ngā tohu me te ārai i ngā raruraru e morearea ana ki te ora. He mea nui te tautuhi wawe me te maimoatanga, ā, me whai koe i ngā tohutohu a tō tākuta. Mena kei a koe, kei tō tamaiti rānei tētahi o ēnei tohu, kaua e wehi ki te toro atu ki te tākuta me te rapu āwhina. Kia maumahara, ehara koe i te mea ko koe anake, ā, kei reira ngā tākuta me ngā whanaunga ka taea te āwhina i a koe i tēnei haerenga.

Te Mate Alagille, Ngā Mate Ira, Ngā Mate Ate, Ngā Mate Manawa, Ngā Mate Tamariki, Te Waikura