Ingabe ingane yakho encane ishintsha ibe phuzi? Ingabe kungaba yiCrigler-Najjar Syndrome? Ake sixoxe ngayo!

Siyazi ukuthi kuyinto evamile ukuthi izingane ezisanda kuzalwa zibe nombala ophuzi kancane esikhumbeni sazo, noma i-jaundice. Esikhathini esiningi, lokhu kuzophela zingakapheli izinsuku ezimbalwa. Kodwa-ke, ngezinye izikhathi lokhu mbala ophuzi kungaba ngaphezu kokuvamile futhi kuhlale isikhathi eside. Yilapho-ke lapho kudingeka sikhathazeke khona kancane. Ngoba, lokhu kungaba ngenxa ye-Crigler-Najjar Syndrome, isimo esingavamile kodwa esingaba yingozi ngokwezakhi zofuzo. Ngakho-ke, ake sixoxe ngalokhu ngemininingwane ethe xaxa namuhla.

Iyini i-Crigler-Najjar Syndrome?

Kalula nje, i-Crigler-Najjar Syndrome yisimo esingavamile sofuzo esenzeka lapho kunezinto ezinobuthi eziningi kakhulu ezibizwa ngokuthi `(Bilirubin)` egazini lethu. Manje cishe uyazibuza ukuthi iyini le `(Bilirubin)`, akunjalo?

Cabanga ngakho, amangqamuzana abomvu egazi emzimbeni wethu anesikhathi esithile sokuphila. Lapho leso sikhathi sokuphila siphela, ayafa. Lo mbala ophuzi okhiqizwa lapho amangqamuzana abomvu ephuka ubizwa ngokuthi `(Bilirubin).` Ngokuvamile, lokhu kwenzeka emzimbeni womuntu ophilile: Isibindi sethu sithatha le `(Bilirubin)`, sisuse ubuthi baso, bese siyiguqula ibe yinto engenabo ubuthi. Bese ikhishwa emzimbeni ngendle.

Kodwa-ke, isibindi somuntu onesifo iCrigler-Najjar asikwazi ukuphula kahle le bilirubin. Ngemuva kwalokho, i-bilirubin enobuthi iqala ukuqongelela egazini. Lesi yisimo esibi esingaba yingozi empilweni uma singelashwa kahle.

Ingabe zikhona izinhlobo ze-Crigler-Najjar syndrome?

Yebo, kunezinhlobo ezimbili eziyinhloko ze-Crigler-Najjar Syndrome:

• Uhlobo 1 (CN1): Lolu uhlobo olubi kakhulu nolusongela impilo. Izingane eziningi ezinalesi simo zikuthola kunzima ukusinda ngenxa yezinkinga zalesi sifo, ikakhulukazi ukulimala kobuchopho. Ukwelashwa okusheshayo nokujulile kubalulekile.
• Uhlobo 2 (CN2): Lesi yisimo esingesibi kangako kunesohlobo 1. Izingane ezinalolu hlobo zinezimpawu ezingabangeli zinkinga ngoba isibindi siyakwazi ukucubungula i-bilirubin ngezinga elithile. Ngakho-ke, zingaphila isikhathi esijwayelekile sokuphila.

Lesi simo sithinta bani? Kuvamile kangakanani?

I-Crigler-Najjar Syndrome yisimo sofuzo esingathinta noma ubani. Sibangelwa ukuguquka kwezakhi zofuzo okuthiwa `(UGT1A1)`. Cabanga nje, uma bobabili abazali bengabathwali balesi sakhi sofuzo esinamaphutha, futhi ingane ithola ikhophi yesakhi sofuzo enamaphutha kubo bobabili, lesi simo (okungukuthi, `(Autosomal Recessive)`) siyenzeka. Uma lesi sakhi sofuzo esinamaphutha sivela kumama kuphela noma kuyise kuphela, kungaba yisimo esingesibi kangako, njenge `(Gilbert's Syndrome)`, kanye nesinye isimo esihlobene ne `(Bilirubin)`.

I-Crigler-Najjar Syndrome ithinta cishe ingane eyodwa kweziyisigidi emhlabeni jikelele. Lokho kusho ukuthi iyisifo esingavamile kakhulu.

Lokhu kuthinta kanjani umzimba wengane?

Uma ingane yakho inalesi simo, isikhumba sayo kanye namehlo ayo amhlophe azophenduka aphuzi. Lokhu kubizwa ngokuthi i-jaundice. Lokhu kwenzeka ngoba isibindi asikwazi ukucubungula i-bilirubin kahle, okubangela ukunqwabelana kwe-bilirubin egazini. Nakuba i-jaundice ivame kakhulu ezinganeni ezisanda kuzalwa, izingane ezine-Crigler-Najjar syndrome zingase zibe ne-jaundice isikhathi eside, mhlawumbe kukho konke ukuphila kwazo.

Lokhu kungaba yingozi empilweni. Ngoba uma umzimba wengane yakho uthola i-bilirubin eningi kakhulu, ingahamba iye ebuchosheni futhi ibangele umonakalo wobuchopho ongenakulungiseka. Lokhu kubizwa ngokuthi i-Kernicterus. Ngakho-ke, odokotela bazokwenza uhlelo lokwelapha luhambisane nezimpawu zengane yakho ukuze bavimbele le miphumela eyingozi.

Ziyini izimpawu ze-Crigler-Najjar syndrome?

Ubukhali bezimpawu buyahlukahluka kuye ngohlobo (Uhlobo 1 noma Uhlobo 2). Uhlobo 1 lunzima kakhulu.

Uma umntwana osanda kuzalwa enalesi simo, isikhumba sakhe kanye namehlo akhe amhlophe azophenduka aphuzi, okubizwa ngokuthi i-jaundice. I-jaundice ivame kakhulu ezinganeni ezisanda kuzalwa ngoba isibindi sazo asikakhuli ngokugcwele. Lokhu kuvame ukuba ngcono phakathi nesonto lokuqala noma amabili okuphila. Kodwa-ke, ezinganeni ezine-Crigler-Najjar syndrome, le jaundice iyaqhubeka ngemva kokuzalwa.

Kuyini i-Kernicterus?

Uma i-bilirubin inqwabelana kakhulu ebuchosheni bengane, ezinzwa nasezicutshini, izingane ezine-Crigler-Najjar syndrome ziba nesimo esibizwa ngokuthi i-kernicterus. I-Kernicterus yisimo esisongela impilo esilimaza ubuchopho. Lezi zimpawu zivame ukuvela ngemva kwenyanga noma ngaphezulu, noma ebuntwaneni bokuqala. Ngezinye izikhathi, lezi zimpawu zingavela kamuva ekuphileni, kungaba uma ukwelashwa kwe-Crigler-Najjar syndrome kuyekwa, noma uma amazinga e-bilirubin ekhuphuka ngokuzumayo ngenxa yesinye isifo (umkhuhlane, ukutheleleka), noma uma isibindi somntwana sonakele.

Izimpawu ezincane ze-kernicterus zingafaka:

• Ukungakhululeki
• Ukuqaqamba kwemisipha
• Izinkinga zokuzwa (ukuzwa, ukubona, ukuzwa)
• Ubunzima bokwenza imisebenzi emihle (isib. ukubamba okuthile, ukunamathisela izinkinobho zezinto, njll.)
• Ukunyakaza okungalawulwa njengokuziphendukezela njalo nokugoqa umzimba (i-Choreoathetosis)
• I-enamel yamazinyo ayikhuli kahle

Izimpawu ezinkulu ze-Kernicterus zingabandakanya:

• Ubunzima bokuzwa noma ukungezwa
• Ukukhathala ngokweqile, ukulala njalo (ukudinwa)
• Ubunzima bokudla nokugwinya
• Imfiva
• Isicanucanu noma ukuhlanza
• Ngezinye izikhathi imisipha ngokuzumayoUbuthakathaka (i-Hypotonia) kanye/noma ngezinye izikhathi ukuqina kwemisipha (i-Hypertonia)
• Izinkinga zokuthuthukiswa kwengqondo

Iyini imbangela yalokhu?

Njengoba sishilo ngaphambili, isizathu esiyinhloko salokhu ukuguqulwa kwezakhi zofuzo okubizwa ngokuthi `(UGT1A1)`. Le `(UGT1A1)` yezakhi zofuzo iyala isibindi ukuthi senze i-enzyme ebizwa ngokuthi i-glucuronyl transferase. Le enzyme ibaluleke kakhulu ngoba isiza ukuguqula `(Bilirubin)` kusuka ku-"unconjugated" kuya ku-"conjugated" bese iyisusa emzimbeni.

Cabanga ngalokhu: I-Bilirubin iwumkhiqizo ongcolile ophuzi. Isibindi sifana nefektri. Ngaphakathi kwale fektri, kunezisebenzi ezibizwa ngokuthi ama-enzyme akhiqizwa yi-gene ye-UGT1A1. Umsebenzi wazo ukuthatha le bilirubin "embi" bese ziyiguqula ibe yi-bilirubin "enhle", encibilika emanzini futhi ingasuswa kalula emzimbeni. Bese ihlangana ne-bile, idlule emathunjini, bese ikhishwa esitulweni.

Kodwa-ke, uma une-mutation ku-gene `(UGT1A1)`, lawo "ma-enzyme" (ama-enzyme) awakhiqizwa kahle, noma awakwazi ukusebenza kahle. Khona-ke leyo "embi", enobuthi `(Bilirubin)` iqoqana egazini nasezicutshini. Uma into efana nalena enobuthi iqoqana egazini, uma ingelashwa kahle, izimpawu ezisongela ukuphila zingavela.

Ukuthola kanjani lokhu?

Uma ingane yakho ine-jaundice, okusho ukuthi izinga le-bilirubin liphakeme kunalokho obekulindelwe kosana olusanda kuzalwa, noma uma i-jaundice iba yimbi ngokushesha ezinsukwini ezimbalwa zokuqala noma emavikini ngemva kokuzalwa, kufanele ubone udokotela ngokushesha. Ngaphezu kokuhlolwa ngokomzimba, udokotela uzokwenza ezinye izivivinyo eziningana ukuthola ukuthi kungani isikhumba namehlo amhlophe ephuzi. Izivivinyo ezisetshenziswa ukuxilonga i-Crigler-Najjar Syndrome yilezi:

• Ukuhlolwa kwezakhi zofuzo: Lokhu kusiza ukuthola ukuguquka kwezakhi zofuzo (UGT1A1) okubangela izimpawu.
• Ukuhlolwa Kwezinga Le-Bilirubin Egazini: Lokhu kulinganisa inani eliphelele le-bilirubin egazini, kanye ne-bilirubin "embi" (i-bilirubin engaxhunywanga).
• Ukuhlolwa kokusebenza kwesibindi: Hlola ukuthi isibindi sisebenza kahle kangakanani.
• Kungase kudingeke futhi ukuthi uthathe ingxenye encane yesibindi (i-liver biopsy) bese uyihlola ukuze uhlole umsebenzi we-enzyme.

Udokotela uzophinde akubuze ukuthi ngabe kukhona yini emndenini wakho oke waba nalezi zinhlobo zezimo zofuzo, ukuze uthole umbono wokuxilongwa ngaphambi kokwenza izivivinyo.

Yiziphi izindlela zokwelapha lokhu?

Umgomo oyinhloko wokwelapha i-Crigler-Najjar Syndrome ukunciphisa izinga le-bilirubin emzimbeni nokuvimbela i-kernicterus. Lokhu kwelashwa kungafaka:

• Ukwelashwa nge-Phototherapy: Yilokhu kuphelaUkwelashwa okuyinhloko nokusetshenziswa kakhulu. Lokhu kuhilela ukusebenzisa izibani eziluhlaza okwesibhakabhaka ezikhethekile ukususa i-`(Bilirubin)` ngesikhumba. Cabanga nje, lezi zibani zishintsha ukuma kwama-molecule e-`(Bilirubin)`, okwenza ancibilike emanzini, ahlanganiswe ne-bile, futhi akhishwe emzimbeni. Phakathi nalokhu kwelashwa, kubekwa isembozo esivikelayo phezu kwamehlo engane futhi isikhumba esiningi ngangokunokwenzeka sivezwa ekukhanyeni. Lokhu kufanele kwenziwe amahora amaningana ngosuku, mhlawumbe impilo yakhe yonke.
• Ukufakelwa kwesibindi: Lokhu kuyindlela yokwelapha ehlala njalo ye-CN1. Lokhu kuhilela ukususa isibindi esinesifo ngokuhlinzwa bese kufakwa isibindi esinempilo (noma ingxenye yesibindi). Isibindi esisha siyakwazi ukucubungula i-bilirubin ngendlela efanele, okusiza ukubuyisela amazinga e-bilirubin esimweni esijwayelekile. Lokhu kuvame ukwenziwa esemncane ukuvimbela ukulimala kobuchopho.
• I-Phenobarbital: Lo muthi ngezinye izikhathi usetshenziselwa i-CN2. Ungandisa kancane umsebenzi wama-enzyme esibindi acubungula i-bilirubin. Kodwa-ke, awusebenzi ku-CN1.
• I-Plasmapheresis noma i-Exchange Transfusion: Lezi zindlela zisetshenziselwa ukususa i-bilirubin ngokushesha egazini uma izinga le-bilirubin likhuphuka kakhulu ngokuzumayo, okubangela ingozi yokulimala kobuchopho.
• Lawula umkhuhlane kanye nezifo: Umkhuhlane kanye nezifo kungabangela amazinga aphezulu e-bilirubin, ngakho-ke kubalulekile ukuzilawula ngokushesha.

Ingabe ikhona imiphumela emibi yokwelashwa?

Ukwelashwa nge-Phototherapy ngokuvamile kuyindlela yokwelapha ephephile. Kodwa-ke, ngezinye izikhathi kungabangela isikhumba esomile kanye nesifo sohudo. Futhi, kudingeka uqaphele ukuthi ingane yakho imanzi kangakanani.

Ukusebenzisa izibani ezintsha eziluhlaza okwesibhakabhaka ze-"LED" cishe ngeke kubangele umonakalo esikhumbeni kunezibani ezindala ze-fluorescent.

Njengoba sikhula futhi sikhula, isikhumba siyaqina, okunganciphisa ikhono lokukhanya kwe-`(Phototherapy)` lokufinyelela kuma-molecule e-`(Bilirubin)`. Lokhu kunganciphisa impumelelo yokwelashwa, futhi kungadingeka ucabangele ukufakelwa isibindi.

Izinto okufanele uzicabangele lapho unakekela ingane

Ukunakekela ingane ene-Crigler-Najjar Syndrome kungaba yinselele.

• (Ukwelashwa nge-Phototherapy)` Kubaluleke kakhulu ukwenza ukwelashwa njengoba nje udokotela esho, ngesikhathi esifanele. Ezimweni eziningi, lokhu kungalungiswa ukuze kwenziwe ekhaya.
• Ngesikhathi umntwana ekhanya, mduduze, khuluma naye, bese umthinta.
• Ukuthola amanzi anele kubalulekile.
• Hlala unake umbala wesikhumba sengane yakho, ukuziphatha kwayo, kanye nemikhuba yayo yokudla. Uma ubona noma yiziphi izinguquko, tshela udokotela wakho ngokushesha.
• Uma uba nezimpawu ezifana nomkhuhlane, ukuhlanza, noma isifo sohudo, bona udokotela wakho ngokushesha.Ngoba izinto ezinjengalezi zingabangela amazinga e-bilirubin akhuphuke ngokuzumayo.

Ingabe lokhu kungavinjelwa?

Cha. I-Crigler-Najjar Syndrome ayinakuvinjelwa ngoba iyisimo sofuzo. Kodwa-ke, uma uhlela ukuba nomntwana, uma othile emndenini wakho enalesi simo sofuzo, noma uma ukhathazekile ngaso, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo kanye nokuhlolwa kofuzo. Lokhu kuzokusiza ukuthola ingozi yakho yokuba nomntwana onalesi simo.

Impilo izoba njani ngalesi simo? (Isibikezelo)

Lokhu kuncike ohlotsheni lwesifo (CN1 noma CN2) nokuthi siphathwa ngokushesha nangempumelelo kangakanani.

• Izingane ezinesifo sohlobo lwe-CN2 , uma zelashwa kahle, ngokuvamile zingalindela ukululama okuhle kanye nempilo ejwayelekile.
• Izingane ezine -CN1 zisengozini enkulu yokuthola ukulimala kobuchopho ngenxa ye-kernicterus uma zingatholakali zingakapheli izinyanga ezimbalwa zokuphila futhi zelashwe nge-phototherapy ejulile bese kuba ukufakelwa isibindi. Ezimweni ezinjalo, isikhathi sokuphila singancishiswa. Kodwa-ke, ngokwelashwa okusheshayo nokufanelekile, ikakhulukazi ukufakelwa isibindi, zingaphila impilo evamile.

Abantu abaningi badinga ukwelashwa impilo yonke kanye nokuphathwa kwezifo.

Ingabe ikhona ikhambi elihlala njalo lalokhu?

Yebo, njengoba sesishilo ngaphambili, ukufakelwa isibindi kungelapha i-Crigler-Najjar Syndrome, ikakhulukazi uhlobo lwe-CN1. Njengoba isibindi esisha nesiphilile sikwazi ukucubungula i-Bilirubin kahle, izinga le-Bilirubin libuyela esimweni esijwayelekile, kuqedwe isidingo sokwelashwa nge-phototherapy.

Kufanele ngimbone nini udokotela?

I-Crigler-Najjar Syndrome ingabangela izimpawu ezingalungiseki nezisongela ukuphila. Ngakho-ke, uma i-jaundice yengane yakho ingathuthuki ezinsukwini ezimbalwa noma ibonakala iba yimbi kakhulu, bheka udokotela ngokushesha.

Ngaphezu kwalokho, uma ubona noma yiziphi zalezi zimpawu, xhumana nodokotela ngokushesha:

• Ukulibaziseka kokukhula kwengane
• Umkhuhlane ophezulu
• I-jaundice engathuthuki noma eba yimbi kakhulu ngemva kokwelashwa nge-phototherapy
• Ubunzima bokudla, ukwehlisa isisindo
• Uma ingane ihlala ilele futhi ingenasithakazelo
• Ukunyakaza komzimba okungavamile noma ukugxumagxuma

Imibuzo okufanele uyibuze udokotela

Uma uya kudokotela, lungela ukubuza imibuzo efana nale:

• Ingabe ingane yami ine-Crigler-Najjar syndrome uhlobo 1 noma 2?
• Ingane yami idinga isikhathi esingakanani sokwelashwa nge-phototherapy? Mangaki amahora ngosuku?
• Ingabe ikhona imiphumela emibi kulezi zindlela zokwelapha? Yini engenziwa ngazo?
• Ingabe ingane yami izodinga ukufakelwa isibindi? Uma kunjalo, yisiphi isikhathi esingcono kakhulu sokwenza lokho?
• Kubaluleke kangakanani ukuxilongwa kwengane yami futhi yini engingayilindela esikhathini eside?
• Ngingakwazi yini ukwenza i-phototherapy ekhaya? Yimiphi imishini edingekayo?
• Yiziphi izinto okudingeka ngizinake kakhulu lapho nginakekela ingane yami?
• Kufanele ngize nini ukuzohlolwa kwami ​​okulandelayo?

Ukuxilongwa kwe-Crigler-Najjar Syndrome kungaba yinselele kokubili enganeni nakubanakekeli bayo. Kuyaqondakala ukuzizwa wesaba futhi ukhathazekile lapho ingane yakho izalwa inesikhumba namehlo aphuzi. Uma uzizwa ukhungathekile, ucindezelekile, noma ukhathazekile ngenkathi unakekela ingane yakho enalesi sifo, kubalulekile ukukhuluma nomeluleki wezempilo yengqondo futhi uzinakekele. Uma uphilile futhi unamandla, ungasiza ingane yakho ukuthi ihambe kulolu hambo.

Ngakho-ke, yiziphi izinto okudingeka sizikhumbule? (Umyalezo Wokuya Ekhaya)

I-Crigler-Najjar Syndrome iyisifo esingavamile kodwa esingaba yingozi ngokwezakhi zofuzo. Isihluthulelo ukuxilonga lesi sifo kusenesikhathi bese uqala ukwelashwa okufanele.

• Uma i-jaundice yengane yakho (umbala ophuzi) ibonakala ingaphezu kokuvamile, noma uma ibonakala iqhubeka isikhathi eside, qiniseka ukuthi ubona udokotela. Ungachithi isikhathi.
• Kunezinhlobo ezimbili zalesi simo; i-CN1 iyona embi kakhulu futhi idinga ukwelashwa okusheshayo nokujulile.
• Ukwelashwa nge-Phototherapy kuyindlela yokwelapha evame ukusetshenziswa kakhulu. Ku-CN1, ukufakelwa kwesibindi kuyisisombululo esingcono kakhulu nesihlala njalo.
• Lesi yisimo sofuzo futhi asinakuvinjelwa. Kodwa-ke, kubalulekile ukufuna ukwelulekwa ngofuzo lapho uhlela umndeni.

Into ebalulekile ukwazi ukuthi awuwedwa. Ngokusekelwa odokotela, umndeni, nabanye abazali abanezingane ezinjengalezi, ungabhekana nale nselele. Ngokwelashwa okufanele nokunakekelwa ngothando, ungasiza ingane yakho iphile impilo enhle nejwayelekile ngangokunokwenzeka.

Isifo sikaCrigler -Najjar, iBilirubin, iJaundice, isibindi, isifo sofuzo, iKernicterus, iPhototherapy, izinsana ezisanda kuzalwa