Kodi mwana wanu wayamba kuoneka wachikasu? Kodi ndi matenda a Crigler-Najjar? Tiyeni tikambirane za izi!

Tikudziwa kuti ndi zachilendo kuti makanda obadwa kumene akhale ndi khungu lachikasu pang'ono, kapena jaundice. Nthawi zambiri, izi zimatha mkati mwa masiku ochepa. Komabe, nthawi zina chikasuchi chingakhale choposa chachibadwa ndipo chimatenga nthawi yayitali. Pamenepo ndi pomwe tiyenera kuda nkhawa pang'ono. Chifukwa, izi zitha kukhala chifukwa cha Crigler-Najjar Syndrome, matenda osowa koma omwe angakhale oopsa m'majini. Chifukwa chake, tiyeni tikambirane za izi mwatsatanetsatane lero.

Kodi Crigler-Najjar Syndrome ndi chiyani?

Mwachidule, Crigler-Najjar Syndrome ndi matenda osowa kwambiri omwe amapezeka m'majini omwe amapezeka pamene pali mankhwala oopsa otchedwa `(Bilirubin)` ambiri m'magazi mwathu. Tsopano mwina mukudabwa kuti `(Bilirubin)` iyi ndi chiyani, eti?

Taganizirani izi, maselo ofiira m'thupi lathu amakhala ndi moyo winawake. Moyo umenewo ukatha, amafa. Utoto wachikasu uwu womwe umapezeka maselo ofiira akamawonongeka umatchedwa `(Bilirubin).` Kawirikawiri, izi zimachitika m'thupi la munthu wathanzi: Chiwindi chathu chimatenga `(Bilirubin)` iyi, kuchotsa poizoni wake, ndikuisintha kukhala chinthu chosakhala poizoni. Kenako imatulutsidwa m'thupi ndi ndowe.

Komabe, chiwindi cha munthu amene ali ndi matenda a Crigler-Najjar sichingathe kuswa bwino `(Bilirubin)` iyi. Kenako `(Bilirubin)` yoopsayo imayamba kusonkhana m'magazi. Uwu ndi matenda oopsa omwe angakhale oopsa ngati sakuthandizidwa bwino.

Kodi pali mitundu ina ya matenda a Crigler-Najjar?

Inde, pali mitundu iwiri ikuluikulu ya Crigler-Najjar Syndrome:

• Mtundu 1 (CN1): Uwu ndi mtundu woopsa kwambiri komanso woopsa kwambiri. Ana ambiri omwe ali ndi vutoli amavutika kupulumuka chifukwa cha zovuta za matendawa, makamaka kuwonongeka kwa ubongo. Chithandizo chofulumira komanso chofulumira n'chofunikira.
• Mtundu wachiwiri (CN2): Uwu ndi matenda ocheperako pang'ono poyerekeza ndi mtundu woyamba. Ana omwe ali ndi mtundu uwu amakhala ndi zizindikiro zochepa chifukwa chiwindi chimatha kugwira ntchito ya bilirubin pang'ono. Chifukwa chake, amatha kukhala ndi moyo wabwinobwino.

Kodi vutoli limakhudza ndani? Kodi ndi lofala bwanji?

Matenda a Crigler-Najjar ndi matenda a majini omwe angakhudze aliyense. Amayambitsidwa ndi kusintha kwa majini otchedwa `(UGT1A1)`. Tangoganizirani, ngati makolo onse awiri ali ndi jini lolakwikali, ndipo mwana akalandira kopi ya jini lolakwika kuchokera kwa onse awiri, vutoli (ndiko kuti, `(Autosomal Recessive)`) limachitika. Ngati jini lolakwikali limachokera kwa mayi kapena bambo okha, likhoza kukhala vuto losaopsa kwambiri, monga `(Gilbert's Syndrome)`, ndi vuto lina lofanana ndi `(Bilirubin)`.

Matenda a Crigler-Najjar amakhudza pafupifupi mwana mmodzi pa ana obadwa kumene miliyoni imodzi padziko lonse lapansi. Izi zikutanthauza kuti ndi matenda osowa kwambiri.

Kodi izi zimakhudza bwanji thupi la mwana?

Ngati mwana wanu ali ndi vutoli, khungu lake ndi maso ake oyera adzasanduka achikasu. Izi zimatchedwa jaundice. Izi zimachitika chifukwa chiwindi sichingathe kukonza bilirubin bwino, zomwe zimapangitsa kuti bilirubin ichuluke m'magazi. Ngakhale kuti jaundice ndi yofala mwa makanda obadwa kumene, makanda omwe ali ndi matenda a Crigler-Najjar akhoza kukhala ndi jaundice kwa nthawi yayitali, mwina m'miyoyo yawo yonse.

Izi zitha kukhala zoopsa pa moyo. Chifukwa ngati thupi la mwana wanu likhala ndi bilirubin yochuluka, imatha kupita ku ubongo ndikuyambitsa kuwonongeka kwa ubongo kosatha. Izi zimatchedwa Kernicterus. Chifukwa chake, madokotala adzasintha njira yochizira matenda kuti igwirizane ndi zizindikiro za mwana wanu kuti apewe zotsatira zoopsazi.

Kodi zizindikiro za matenda a Crigler-Najjar ndi ziti?

Kuopsa kwa zizindikiro kumasiyana malinga ndi mtundu (Mtundu 1 kapena Mtundu 2). Mtundu 1 ndi woopsa kwambiri.

Ngati mwana wakhanda ali ndi vutoli, khungu lake ndi maso ake oyera zimakhala zachikasu, zomwe zimatchedwa jaundice. Jaundice ndi yofala mwa makanda obadwa kumene chifukwa chiwindi chawo sichinakule bwino. Izi nthawi zambiri zimakhala bwino mkati mwa sabata yoyamba kapena iwiri ya moyo. Komabe, mwa makanda omwe ali ndi matenda a Crigler-Najjar, jaundice iyi imapitirira pambuyo pobadwa.

Kodi Kernicterus ndi chiyani?

Ngati bilirubin ichuluka kwambiri mu ubongo wa mwana, mitsempha, ndi minofu, ana omwe ali ndi matenda a Crigler-Najjar amadwala matenda otchedwa kernicterus. Kernicterus ndi matenda oopsa omwe amawononga ubongo. Zizindikirozi nthawi zambiri zimawonekera patatha mwezi umodzi kapena kuposerapo, kapena ali mwana. Nthawi zina, zizindikirozi zimatha kuwonekera mtsogolo, kaya ngati chithandizo cha matenda a Crigler-Najjar chayimitsidwa, kapena ngati kuchuluka kwa bilirubin kwawonjezeka mwadzidzidzi chifukwa cha matenda ena (malungo, matenda), kapena ngati chiwindi cha mwana chawonongeka.

Zizindikiro zochepa za kernicterus zingaphatikizepo:

• Kusakhazikika
• Kupweteka kwa minofu
• Mavuto a kumva (kumva, kuona, kumva)
• Kuvuta kuchita ntchito zabwino (monga kugwira chinthu, kutseka mabatani a zinthu, ndi zina zotero)
• Kusuntha kosalamulirika monga kupotoza thupi nthawi zonse (Choreoathetosis)
• Enamel ya mano sikukula bwino

Zizindikiro zazikulu za Kernicterus ndi izi:

• Kuvutika kumva kapena kusamva
• Kutopa kwambiri, kugona tulo kosalekeza (kutopa)
• Kuvuta kudya ndi kumeza
• Malungo
• Kusanza kapena kusanza
• Nthawi zina minofu mwadzidzidziKufooka (Hypotonia) ndi/kapena nthawi zina kuuma kwa minofu (Hypertonia)
• Mavuto a chitukuko cha chidziwitso

Kodi chifukwa chake ndi chiyani?

Monga tanenera kale, chifukwa chachikulu cha izi ndi kusintha kwa majini otchedwa `(UGT1A1)`. Jini iyi ya `(UGT1A1)` imalangiza chiwindi kupanga enzyme yotchedwa glucuronyl transferase. Enzyme iyi ndi yofunika kwambiri chifukwa imathandiza kusintha `(Bilirubin)` kuchoka pa "yosalumikizana" kupita ku "yolumikizana" ndikuichotsa m'thupi.

Taganizirani izi motere: Bilirubin ndi chinyalala chachikasu. Chiwindi chili ngati fakitale. Mkati mwa fakitale iyi, muli antchito otchedwa ma enzyme omwe amapangidwa ndi jini ya UGT1A1. Ntchito yawo ndikutenga bilirubin "yoipa" iyi ndikuisintha kukhala bilirubin "yabwino", yomwe imasungunuka m'madzi ndipo imatha kuchotsedwa mosavuta m'thupi. Kenako imasakanikirana ndi ndulu, imadutsa m'matumbo, ndikutuluka mu ndowe.

Komabe, ngati muli ndi kusintha kwa majini a `(UGT1A1)`, "ogwira ntchito" amenewo (ma enzyme) sapangidwa bwino, kapena sangagwire ntchito bwino. Kenako "zoipa", za poizoni `(Bilirubin)` zimasonkhana m'magazi ndi minofu. Pamene chinthu chonga ichi cha poizoni chisonkhana m'magazi, ngati sichinachiritsidwe bwino, zizindikiro zoopsa zimatha kuchitika.

Kodi mumazindikira bwanji izi?

Ngati mwana wanu ali ndi jaundice, zomwe zikutanthauza kuti bilirubin ndi yokwera kuposa momwe amayembekezera mwa mwana wakhanda, kapena ngati jaundice ikukula mofulumira masiku angapo oyamba kapena milungu ingapo atabadwa, muyenera kuwona dokotala nthawi yomweyo. Kuwonjezera pa kuyezetsa thupi, dokotalayo adzachita mayeso ena angapo kuti adziwe chifukwa chake khungu ndi maso oyera ndi achikasu. Mayeso omwe amagwiritsidwa ntchito pozindikira Crigler-Najjar Syndrome ndi awa:

• Kuyesa majini: Izi zimathandiza kupeza kusintha kwa majini (UGT1A1) komwe kumayambitsa zizindikiro.
• Kuyesa Mlingo wa Bilirubin m'magazi: Izi zimayesa kuchuluka kwa bilirubin m'magazi, komanso bilirubin "yoyipa" (bilirubin yosalumikizidwa).
• Mayeso a ntchito ya chiwindi: Onani momwe chiwindi chikugwira ntchito.
• Mungafunikenso kutenga chidutswa chaching'ono cha chiwindi (liver biopsy) ndikuchiyang'ana kuti muwone momwe ma enzyme amagwirira ntchito.

Dokotala adzakufunsaninso ngati wina aliyense m'banja mwanu adakumanapo ndi matenda amtundu uwu, kuti adziwe bwino za matendawa asanachite mayeso.

Kodi mankhwala ochizira izi ndi otani?

Cholinga chachikulu cha chithandizo cha Crigler-Najjar Syndrome ndikuchepetsa kuchuluka kwa bilirubin m'thupi ndikuletsa kernicterus. Mankhwalawa angaphatikizepo:

• Phototherapy: Izi ndi iziChithandizo chachikulu komanso chogwiritsidwa ntchito kwambiri. Izi zimaphatikizapo kugwiritsa ntchito magetsi apadera abuluu kuti achotse `(Bilirubin)` kudzera pakhungu. Tangoganizirani, magetsi awa amasintha mawonekedwe a mamolekyu a `(Bilirubin)`, kuwapangitsa kusungunuka m'madzi, kuphatikiza ndi ndulu, ndikutuluka m'thupi. Pa chithandizochi, chophimba choteteza chimayikidwa pa maso a mwana ndipo khungu lonse momwe angathere limawululidwa ku kuwala. Izi ziyenera kuchitika kwa maola angapo patsiku, mwina kwa moyo wawo wonse.
• Kuika chiwindi: Iyi ndiyo njira yokhayo yochiritsira matenda a CN1. Izi zimaphatikizapo kuchotsa chiwindi chomwe chili ndi matendawo mwa opaleshoni ndikuchiyika m'malo mwake ndi chiwindi chathanzi (kapena gawo la chiwindi). Chiwindi chatsopanocho chimatha kukonza bwino bilirubin, zomwe zimathandiza kubwezeretsa bilirubin kukhala yachibadwa. Izi nthawi zambiri zimachitika ali aang'ono kuti ubongo usawonongeke.
• Phenobarbital: Mankhwalawa nthawi zina amagwiritsidwa ntchito pa CN2. Amatha kuwonjezera pang'ono ntchito ya ma enzymes a chiwindi omwe amakonza bilirubin. Komabe, sagwira ntchito pa CN1.
• Plasmapheresis kapena Exchange Transfusion: Njirazi zimagwiritsidwa ntchito kuchotsa bilirubin mwachangu m'magazi ngati kuchuluka kwa bilirubin kwakwera mwadzidzidzi, zomwe zimapangitsa kuti ubongo uwonongeke.
• Lamulirani malungo ndi matenda: Malungo ndi matenda angayambitse kuchuluka kwa bilirubin, choncho ndikofunikira kuwaletsa mwachangu.

Kodi pali zotsatirapo zilizonse za mankhwalawa?

Kuchiza ndi njira yotetezeka yochiritsira matenda. Komabe, nthawi zina kungayambitse khungu louma ndi kutsegula m'mimba. Komanso, muyenera kusamala ndi madzi m'thupi la mwana wanu.

Kugwiritsa ntchito magetsi atsopano abuluu a ``LED`` sikungathe kuwononga khungu poyerekeza ndi magetsi akale a fluorescent.

Pamene tikukalamba, khungu limakula, zomwe zingachepetse mphamvu ya kuwala kwa `(Phototherapy)` kufika pa mamolekyu a `(Bilirubin)`. Izi zitha kuchepetsa kupambana kwa chithandizocho, ndipo mungafunike kuganizira zoika chiwindi.

Zinthu zofunika kuziganizira posamalira mwana

Kusamalira mwana yemwe ali ndi matenda a Crigler-Najjar kungakhale kovuta.

• (Phototherapy)` Ndikofunikira kwambiri kuchita chithandizocho monga momwe dokotala wanenera, panthawi yoyenera. Nthawi zambiri, izi zitha kusinthidwa kuti zichitike kunyumba.
• Pamene mwanayo ali pansi pa kuwala, mutonthozeni, mulankhuleni, ndipo mugwireni.
• Kuthira madzi moyenera ndikofunikira.
• Nthawi zonse muzisamala ndi mtundu wa khungu la mwana wanu, khalidwe lake, komanso kadyedwe kake. Ngati muwona kusintha kulikonse, uzani dokotala wanu nthawi yomweyo.
• Ngati mukumva zizindikiro monga kutentha thupi, kusanza, kapena kutsegula m'mimba, pitani kwa dokotala nthawi yomweyo.Chifukwa zinthu ngati izi zingayambitse kuchuluka kwa bilirubin mwadzidzidzi.

Kodi izi zingapewedwe?

Ayi. Matenda a Crigler-Najjar sangapewedwe chifukwa ndi matenda a majini. Komabe, ngati mukukonzekera kukhala ndi mwana, ngati wina m'banja mwanu ali ndi vutoli, kapena ngati mukuda nkhawa nalo, lankhulani ndi dokotala wanu za upangiri wa majini ndi kuyezetsa majini. Izi zikuthandizani kudziwa chiopsezo chanu chokhala ndi mwana ndi vutoli.

Kodi moyo udzakhala bwanji ndi vutoli? (Zomwe zidzachitike)

Izi zimadalira mtundu wa matenda (CN1 kapena CN2) komanso momwe amachizidwira mwachangu komanso bwino.

• Ana omwe ali ndi mtundu wa CN2 , ngati atalandira chithandizo choyenera, nthawi zambiri amatha kuyembekezera kuchira bwino komanso kukhala ndi moyo wabwinobwino.
• Ana omwe ali ndi CN1 ali pachiwopsezo chachikulu chovulala ubongo chifukwa cha kernicterus ngati sanapezeke ndi matendawa m'miyezi yoyambirira ya moyo wawo ndipo sanalandire chithandizo chamankhwala chokhazikika kenako n'kupatsidwa chiwindi. Zikatero, nthawi yotsala ya moyo ikhoza kukhala yochepa. Komabe, ndi chithandizo chachangu komanso choyenera, makamaka kupatsidwa chiwindi, amatha kukhala ndi moyo wabwinobwino.

Anthu ambiri amafunika chithandizo cha moyo wawo wonse komanso kuyang'anira matenda.

Kodi pali mankhwala ochiritsira izi?

Inde, monga tanenera kale, kuyika chiwindi kungathe kuchiza matenda a Crigler-Najjar, makamaka mtundu wa CN1. Popeza chiwindi chatsopano komanso chathanzi chimatha kugwiritsa ntchito Bilirubin moyenera, kuchuluka kwa Bilirubin kumabwerera mwakale, zomwe zimapangitsa kuti pasakhale kufunikira kwa phototherapy.

Kodi ndiyenera kupita kwa dokotala liti?

Matenda a Crigler-Najjar angayambitse zizindikiro zosasinthika komanso zoopsa. Chifukwa chake, ngati matenda a chikasu cha m'mimba mwa mwana wanu sakuchira patatha masiku ochepa kapena akuoneka kuti akukulirakulira, pitani kuchipatala nthawi yomweyo.

Kuphatikiza apo, ngati muwona zizindikiro zilizonsezi, pitani kwa dokotala nthawi yomweyo:

• Kuchedwa kwa kukula kwa mwana
• Malungo aakulu
• Jaundice yomwe siikuchira kapena kuipiraipira pambuyo pa phototherapy
• Kuvuta kudya, kuchepetsa thupi
• Ngati mwanayo nthawi zonse amakhala ndi tulo komanso alibe chidwi
• Kusuntha kwa thupi kosazolowereka kapena kugwedezeka

Mafunso oti mufunse dokotala

Mukapita kwa dokotala, khalani okonzeka kufunsa mafunso ngati awa:

• Kodi mwana wanga ali ndi matenda a Crigler-Najjar mtundu 1 kapena 2?
• Kodi mwana wanga amafunika phototherapy kwa nthawi yayitali bwanji? Maola angati patsiku?
• Kodi pali zotsatirapo zilizonse zoyipa zomwe zingachitike chifukwa cha mankhwala awa? Nanga tingatani nazo?
• Kodi mwana wanga adzafunika kuikidwa chiwindi? Ngati ndi choncho, nthawi yabwino yochitira izi ndi iti?
• Kodi matenda a mwana wanga ndi aakulu bwanji ndipo ndingayembekezere chiyani pakapita nthawi?
• Kodi ndingathe kuchita phototherapy kunyumba? Ndi zipangizo ziti zomwe zikufunika?
• Ndi zinthu ziti zomwe ndiyenera kuziganizira kwambiri posamalira mwana wanga?
• Kodi ndiyenera kubwera liti kudzayezetsanso matenda anga?

Kuzindikira matenda a Crigler-Najjar Syndrome kungakhale kovuta kwa mwana ndi osamalira ake. N'zomveka kumva mantha komanso nkhawa mwana wanu akabadwa ndi khungu lachikasu ndi maso. Ngati mukumva kutopa, kupsinjika maganizo, kapena kuda nkhawa pamene mukusamalira mwana wanu ndi matendawa, ndikofunikira kulankhula ndi mlangizi wa zaumoyo wamaganizo ndikudzisamalira nokha. Mukakhala ndi thanzi labwino komanso lamphamvu, mutha kuthandiza bwino mwana wanu kuyenda ulendowu.

Ndiye, ndi zinthu ziti zomwe tiyenera kukumbukira? (Uthenga Wopita Nawo Kunyumba)

Matenda a Crigler-Najjar ndi matenda osowa koma omwe angakhale oopsa m'majini. Chofunika kwambiri ndikupeza matendawa msanga ndikuyamba kulandira chithandizo choyenera.

• Ngati mwana wanu ali ndi matenda achikasu (chikasu) kuposa masiku onse, kapena ngati akuoneka kuti akupita kwa nthawi yayitali, pitani kwa dokotala. Musataye nthawi.
• Pali mitundu iwiri ya vutoli; CN1 ndi yoopsa kwambiri ndipo imafuna chithandizo chachangu komanso champhamvu.
• Kuchiza ndi njira yodziwika kwambiri yochizira matenda a chiwindi (phototherapy). Kwa CN1, kuyika chiwindi m'malo ena ndiye njira yabwino komanso yokhazikika.
• Ichi ndi vuto la majini ndipo silingathe kupewedwa. Komabe, ndikofunikira kufunafuna upangiri wa majini pokonzekera banja.

Chofunika ndikudziwa kuti simuli nokha. Ndi chithandizo cha madokotala, banja, ndi makolo ena omwe ali ndi ana ngati awa, mutha kukumana ndi vutoli. Ndi chithandizo choyenera komanso chisamaliro chachikondi, mutha kuthandiza mwana wanu kukhala ndi moyo wabwino komanso wabwinobwino momwe mungathere.

Matenda a Crigler -Najjar, Bilirubin, Jaundice, Chiwindi, Matenda a majini, Kernicterus, Phototherapy, Makanda Obadwa Kwatsopano