Ingaba umntwana wakho omncinci ujika abe tyheli? Ngaba mhlawumbi yiCrigler-Najjar Syndrome? Makhe sithethe ngayo!

Siyazi ukuba kuyinto eqhelekileyo ukuba iintsana ezisandul’ ukuzalwa zibe nombala otyheli kancinci eluswini lwazo, okanye i-jaundice. Uninzi lwexesha, oku kuya kuphela kwiintsuku ezimbalwa. Nangona kunjalo, ngamanye amaxesha lo mbala utyheli unokuba ngaphezu kokuqhelekileyo kwaye uhlale ixesha elide. Kulapho kufuneka sikhathazeke kancinci. Kuba, oku kusenokuba ngenxa yeCrigler-Najjar Syndrome, imeko engaqhelekanga kodwa enokuba yingozi yemfuza. Ngoko ke, masithethe ngale nto ngeenkcukacha ezithe vetshe namhlanje.

Yintoni iCrigler-Najjar Syndrome?

Ngamafutshane, iCrigler-Najjar Syndrome sisifo esingaqhelekanga semfuza esenzeka xa kukho into enobuthi ebizwa ngokuba yi-`(Bilirubin)` egazini lethu. Ngoku mhlawumbi uyazibuza ukuba yintoni le `(Bilirubin)`, akunjalo?

Cinga nje, iiseli ezibomvu zegazi emizimbeni yethu zinexesha elithile lobomi. Xa elo xesha lobomi liphela, ziyafa. Le pigment ityheli eveliswa xa iiseli ezibomvu zegazi ziqhekeka ibizwa ngokuba yi-`(Bilirubin).` Ngokwesiqhelo, oku kwenzeka emzimbeni womntu ophilileyo: Isibindi sethu sithatha le `(Bilirubin)`, sisuse ubume bayo obunobungozi, size siyiguqule ibe yinto engenabungozi. Emva koko ikhutshwa emzimbeni ngendle.

Nangona kunjalo, isibindi somntu onesifo seCrigler-Najjar asikwazi ukuyicola kakuhle le bilirubin. Emva koko, i-bilirubin enobuthi iqala ukuqokelelana egazini. Esi sisifo esibi kakhulu esinokuba yingozi ebomini ukuba asinyangwa ngokufanelekileyo.

Ngaba kukho iintlobo zesifo sikaCrigler-Najjar?

Ewe, kukho iintlobo ezimbini eziphambili zeCrigler-Najjar Syndrome:

• Uhlobo 1 (CN1): Olu lolona hlobo lubi kakhulu nolusongela ubomi. Abantwana abaninzi abanale meko banengxaki yokusinda ngenxa yeengxaki zesi sifo, ingakumbi umonakalo wobuchopho. Unyango olukhawulezileyo nolunzulu lubalulekile.
• Uhlobo 2 (CN2): Le yimeko engembi kangako kuneyohlobo 1. Abantwana abanolu hlobo baneempawu ezingembi kangako kuba isibindi siyakwazi ukucubungula i-bilirubin ukuya kuthi ga kwinqanaba elithile. Ngenxa yoko, banokuphila ubomi obuqhelekileyo.

Ichaphazela bani le meko? Ixhaphake kangakanani?

I-Crigler-Najjar Syndrome yimeko yemfuza enokuchaphazela nabani na. Ibangelwa kukuguquka kwejini ebizwa ngokuba yi-`(UGT1A1)`. Khawuthelekelele, ukuba bobabini abazali bangabathwali bale jini inesiphako, kwaye umntwana ufumana ikopi yejini enesiphako kubo bobabini, le meko (oko kukuthi, `(Autosomal Recessive)`) iyenzeka. Ukuba le jini inesiphako ivela kumama kuphela okanye kutata kuphela, isenokuba yimeko enganzulu kangako, efana ne-`(Gilbert's Syndrome)`, kunye nenye imeko enxulumene ne-`(Bilirubin)`.

Isifo sikaCrigler-Najjar sichaphazela malunga nesinye kwisigidi seentsana ezisandul’ ukuzalwa kwihlabathi liphela. Oko kuthetha ukuba sisifo esingaqhelekanga kakhulu.

Oku kuyichaphazela njani umzimba womntwana?

Ukuba umntwana wakho unesi sifo, ulusu lwakhe kunye namehlo akhe amhlophe aya kuba tyheli. Oku kubizwa ngokuba yi-jaundice. Oku kwenzeka kuba isibindi asikwazi ukuyicoca kakuhle i-bilirubin, nto leyo ebangela ukuba i-bilirubin iqokeleleke egazini. Nangona i-jaundice ixhaphakile kwiintsana ezisandul’ ukuzalwa, iintsana ezine-Crigler-Najjar syndrome zinokuba ne-jaundice ixesha elide, mhlawumbi ubomi bazo bonke.

Oku kunokuba yingozi ebomini. Kuba ukuba umzimba womntwana wakho ufumana i-bilirubin eninzi, inokuhamba iye engqondweni ize ibangele umonakalo ongenakulungiseka engqondweni. Oku kubizwa ngokuba yiKernicterus. Ke ngoko, oogqirha baya kulungelelanisa isicwangciso sonyango ngokweempawu zomntwana wakho ukuthintela ezi ziphumo ziyingozi.

Zithini iimpawu zesifo sikaCrigler-Najjar?

Ubunzima beempawu buyahluka ngokuxhomekeke kuhlobo (Uhlobo 1 okanye Uhlobo 2). Uhlobo 1 lolona lunzima kakhulu.

Ukuba umntwana osandul’ ukuzalwa unale meko, ulusu lwakhe kunye namehlo amhlophe aya kuba tyheli, okubizwa ngokuba yi-jaundice. I-jaundice ixhaphakile kwiintsana ezisandul’ ukuzalwa kuba isibindi sazo asikakhuli ngokupheleleyo. Oku kudla ngokuba ngcono kwiiveki zokuqala okanye ezimbini zobomi. Nangona kunjalo, kwiintsana ezine-Crigler-Najjar syndrome, le jaundice iyaqhubeka emva kokuzalwa.

Yintoni iKernicterus?

Ukuba i-bilirubin iqokelelana kakhulu engqondweni yomntwana, kwiimithambo-luvo, nakwiithishu, abantwana abane-Crigler-Najjar syndrome baba nesifo esibizwa ngokuba yi-kernicterus. I-Kernicterus yimeko esongela ubomi eyonakalisa ingqondo. Ezi mpawu zihlala zibonakala emva kwenyanga okanye ngaphezulu, okanye ebuntwaneni bokuqala. Ngamanye amaxesha, ezi mpawu zinokuvela kamva ebomini, nokuba unyango lwe-Crigler-Najjar syndrome luyekisiwe, okanye ukuba amanqanaba e-bilirubin anyuka ngequbuliso ngenxa yesinye isifo (umkhuhlane, usulelo), okanye ukuba isibindi somntwana sonakele.

Iimpawu ezincinci ze-kernicterus zingabandakanya:

• Ukungakhathali
• Ukuqaqamba kwemisipha
• Iingxaki zokuva (ukuziva, ukubona, ukuva)
• Ubunzima bokwenza imisebenzi emihle (umz., ukubamba into ethile, ukuqhobosha izinto, njl.njl.)
• Iintshukumo ezingalawulekiyo ezifana nokujika rhoqo nokujijeka komzimba (i-Choreoathetosis)
• I-enamel yamazinyo ayiphuhli kakuhle

Iimpawu ezinzima zeKernicterus zingabandakanya:

• Ubunzima bokuva okanye ukungeva
• Ukudinwa kakhulu, ukozela rhoqo (Ukudinwa)
• Ubunzima bokutya nokuginya
• Ifiva
• Isicaphucaphu okanye ukuhlanza
• Ngamanye amaxesha izihlunu ngequbulisoUbuthathaka (iHypotonia) kunye/okanye ngamanye amaxesha ukuqina kwemisipha (iHypertonia)
• Imiba yophuhliso lwengqondo

Yintoni isizathu soku?

Njengoko besitshilo ngaphambili, isizathu esiphambili soku kukuguquka kwejini ebizwa ngokuba yi-`(UGT1A1)`. Le jini ye-`(UGT1A1)` iyalela isibindi ukuba senze i-enzyme ebizwa ngokuba yi-glucuronyl transferase. Le enzyme ibaluleke kakhulu kuba inceda ukuguqula i-`(Bilirubin)` ukusuka kwi-"unconjugated" ukuya kwi-"conjugated" kwaye iyisuse emzimbeni.

Cinga ngale ndlela: I-Bilirubin yimveliso yenkunkuma etyheli. Isibindi sifana nomzi-mveliso. Ngaphakathi kulo mzi-mveliso, kukho abasebenzi ababizwa ngokuba zii-enzymes eziveliswa yi-UGT1A1 gene. Umsebenzi wabo kukuthatha le bilirubin "imbi" bayiguqule ibe yi-bilirubin "elungileyo", enyibilikayo emanzini kwaye inokususwa ngokulula emzimbeni. Emva koko idibana ne-bile, idlule emathunjini, kwaye ikhutshwe kwindle.

Nangona kunjalo, ukuba unenguqu kwi-gene ye-`(UGT1A1)`, ezo "zisebenzi" (ii-enzymes) aziveliswanga kakuhle, okanye azikwazi ukusebenza kakuhle. Emva koko loo "mbi", ityhefu `(Bilirubin)` iqokelelana egazini nakwizicubu. Xa into efana nale ityhefu iqokelelana egazini, ukuba ayinyangwa kakuhle, iimpawu ezisongela ubomi zinokuvela.

Uyixilonga njani le nto?

Ukuba umntwana wakho une-jaundice, oko kuthetha ukuba inqanaba le-bilirubin liphezulu kunokuba bekulindelwe kusana olusandul’ ukuzalwa, okanye ukuba i-jaundice iba mandundu ngokukhawuleza kwiintsuku ezimbalwa zokuqala okanye kwiiveki emva kokuzalwa, kufuneka ubone ugqirha ngoko nangoko. Ukongeza kuvavanyo lomzimba, ugqirha uya kwenza ezinye iimvavanyo ezininzi ukuze afumanise ukuba kutheni ulusu kunye namhlophe emehlweni emthubi. Uvavanyo olusetyenziswa ukuxilonga i-Crigler-Najjar Syndrome zezi:

• Uvavanyo lwemfuza: Oku kunceda ekufumaneni utshintsho kwimfuza (UGT1A1) ebangela iimpawu.
• Uvavanyo lweNqanaba leBilirubin egazini: Olu vavanyo lulinganisa isixa siphela se-bilirubin egazini, kunye ne-bilirubin "embi" (i-bilirubin engaxutywanga).
• Uvavanyo lokusebenza kwesibindi: Jonga ukuba isibindi sisebenza kakuhle kangakanani na.
• Kusenokufuneka uthathe iqhekeza elincinci lesibindi (i-liver biopsy) uze ulihlolisise ukuze ujonge umsebenzi we-enzyme.

Ugqirha uza kukubuza ukuba kukho nabani na kusapho lwakho okhe waba nezi ntlobo zezifo zemfuza, ukuze afumane umbono wokuxilongwa ngaphambi kokuba enze uvavanyo.

Zithini iindlela zonyango zoku?

Injongo ephambili yonyango lweCrigler-Najjar Syndrome kukunciphisa amanqanaba e-bilirubin emzimbeni kunye nokuthintela i-kernicterus. Olu nyango lungabandakanya:

• I-Phototherapy: Yiyo leUnyango oluphambili nolusetyenziswa kakhulu. Oku kuquka ukusebenzisa izibane ezikhethekileyo eziluhlaza okwesibhakabhaka ukususa i-`(Bilirubin)` ngesikhumba. Khawuthelekelele, ezi zibane zitshintsha imo yeemolekyuli ze-`(Bilirubin)`, zizenze zinyibilike emanzini, zidityaniswe ne-bile, kwaye zikhutshwe emzimbeni. Ngexesha lonyango, kubekwa isigqubuthelo esikhuselayo phezu kwamehlo omntwana kwaye ulusu oluninzi kangangoko lunokuchatshazelwa kukukhanya. Oku kufuneka kwenziwe iiyure ezininzi ngosuku, mhlawumbi ubomi bakhe bonke.
• Ukufakelwa kwesibindi: Olu lolona nyango luhlala luhleli lwe-CN1. Oku kuquka ukususa isibindi esinesifo ngotyando size sifakwe isibindi esisempilweni (okanye inxalenye yesibindi). Isibindi esitsha siyakwazi ukucubungula i-bilirubin ngokufanelekileyo, nto leyo enceda ukubuyisela amanqanaba e-bilirubin kwisiqhelo. Oku kudla ngokwenziwa kwasebuntwaneni ukuthintela ukonakala kwengqondo.
• I-Phenobarbital: Eli yeza ngamanye amaxesha lisetyenziselwa i-CN2. Linokunyusa kancinci umsebenzi wee-enzymes zesibindi ezisebenza nge-bilirubin. Nangona kunjalo, alisebenzi kwi-CN1.
• I-Plasmapheresis okanye i-Exchange Transfusion: Ezi ndlela zisetyenziselwa ukususa i-bilirubin ngokukhawuleza egazini ukuba inqanaba le-bilirubin liba phezulu kakhulu ngequbuliso, nto leyo ebangela umngcipheko wokonakala kwengqondo.
• Lawula umkhuhlane kunye nezifo: Umkhuhlane kunye nezifo zinokubangela amanqanaba aphezulu e-bilirubin, ngoko ke kubalulekile ukuzilawula ngokukhawuleza.

Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?

I-Phototherapy ngokubanzi lunyango olukhuselekileyo. Nangona kunjalo, ngamanye amaxesha inokubangela ulusu olomileyo kunye norhudo. Kwakhona, kufuneka ulumke malunga nomthamo wamanzi emzimbeni womntwana wakho.

Ukusebenzisa izibane eziluhlaza okwesibhakabhaka ezintsha ze-``LED`` akunakwenzeka ukuba zenze umonakalo eluswini kunezibane ezindala ze-fluorescent.

Njengoko sikhula size sikhule, ulusu luyaqina, nto leyo enokunciphisa amandla okukhanya kwe-`(Phototherapy)` ukufikelela kwiimolekyuli ze-`(Bilirubin)`. Oku kunokunciphisa impumelelo yonyango, kwaye kunokufuneka ucinge ngokufakelwa isibindi.

Izinto ekufuneka ziqwalaselwe xa unyamekela umntwana

Ukunyamekela umntwana oneCrigler-Najjar Syndrome kunokuba ngumceli mngeni.

• (Unyango lwePhototherapy)` Kubaluleke kakhulu ukwenza unyango kanye njengoko ugqirha etshilo, ngexesha elifanelekileyo. Kwiimeko ezininzi, oku kunokulungiswa ukuze kwenziwe ekhaya.
• Ngelixa umntwana ekhanya, mthuthuzele, thetha naye, kwaye umchukumise.
• Umanzi aneleyo ayimfuneko.
• Soloko uqaphela umbala wolusu lomntwana wakho, indlela aziphethe ngayo, kunye nendlela atya ngayo. Ukuba ubona naluphi na utshintsho, xelela ugqirha wakho ngoko nangoko.
• Ukuba ubonakalisa iimpawu ezinje ngomkhuhlane, ukuhlanza, okanye urhudo, bonana nogqirha wakho ngoko nangoko.Kuba izinto ezinje zinokubangela ukuba amanqanaba e-bilirubin anyuke ngequbuliso.

Ngaba oku kungathintelwa?

Hayi. Isifo sikaCrigler-Najjar asinakuthintelwa kuba sisifo esibangelwa lufuzo. Nangona kunjalo, ukuba uceba ukuba nomntwana, ukuba kukho umntu kusapho lwakho onesi sifo esibangelwa lufuzo, okanye ukuba ukhathazekile ngaso, thetha nogqirha wakho malunga neengcebiso zofuzo kunye novavanyo lofuzo. Oku kuya kukunceda ufumane umngcipheko wokuba nomntwana onesi sifo.

Buza kuba njani ubomi xa kukho le meko? (Ingqikelelo)

Oku kuxhomekeke kuhlobo lwesifo (CN1 okanye CN2) kunye nokuba sinyangwa ngokukhawuleza nangempumelelo kangakanani.

• Abantwana abanesifo sohlobo lwe-CN2 , ukuba banyangwa ngokufanelekileyo, banokulindela ukuchacha kakuhle kunye nobomi obuqhelekileyo.
• Abantwana abane -CN1 basengozini enkulu yokwenzakala kwengqondo ngenxa ye-kernicterus ukuba abafunyanwanga kwiinyanga ezimbalwa zokuqala zobomi kwaye banyangwa nge-phototherapy enzulu baze emva koko batyandwe ngokufakelwa isibindi. Kwiimeko ezinjalo, ixesha lokuphila linokuncitshiswa. Nangona kunjalo, ngonyango olukhawulezileyo nolufanelekileyo, ingakumbi ukufakelwa isibindi, banokuphila ubomi obuqhelekileyo.

Abantu abaninzi bafuna unyango lobomi bonke kunye nolawulo lwezifo.

Ngaba ikho indlela ehlala ihleli yokunyanga oku?

Ewe, njengoko besitshilo ngaphambili, ukufakelwa kwesibindi kunokunyanga iCrigler-Najjar Syndrome, ingakumbi uhlobo lwe-CN1. Ekubeni isibindi esitsha nesisempilweni sikwazi ukuyicubungula ngokufanelekileyo iBilirubin, inqanaba leBilirubin libuyela kwisiqhelo, lisusa imfuneko yonyango olusebenzisa i-phototherapy.

Ndifanele ndimbone nini ugqirha?

Isifo sikaCrigler-Najjar sinokubangela iimpawu ezingenakulungiseka nezisongela ubomi. Ngoko ke, ukuba i-jaundice yomntwana wakho ayiphucuki kwiintsuku ezimbalwa okanye ibonakala ngathi iya isiba mandundu, bona ugqirha ngokukhawuleza.

Ukongeza, ukuba ubona naziphi na kwezi mpawu, bonana nogqirha ngokukhawuleza:

• Ukulibaziseka kokukhula komntwana
• Umkhuhlane ophezulu
• I-Jaundice engaphucukiyo okanye eba mandundu emva konyango lwe-phototherapy
• Ubunzima bokutya, ukwehla kobunzima
• Ukuba umntwana uhlala elele kwaye engenamdla
• Iintshukumo zomzimba ezingaqhelekanga okanye ukuxhuzula

Imibuzo yokubuza ugqirha

Xa usiya kugqirha, lungela ukubuza imibuzo efana nale:

• Ngaba umntwana wam une-Crigler-Najjar syndrome type 1 okanye 2?
• Umntwana wam udinga i-phototherapy ixesha elingakanani? Zingaphi iiyure ngosuku?
• Ingaba kukho naziphi na iziphumo ebezingalindelekanga kwezi ndlela zonyango? Yintoni enokwenziwa ngazo?
• Ngaba umntwana wam uza kufuna ukufakelwa isibindi? Ukuba kunjalo, leliphi ixesha elifanelekileyo lokwenza oko?
• Ingaba ingxaki yomntwana wam inzulu kangakanani kwaye yintoni endinokuyilindela kwixesha elizayo?
• Ndingenza i-phototherapy ekhaya? Zeziphi izixhobo ezifunekayo?
• Zeziphi izinto ekufuneka ndiziqwalasele ngokukodwa xa ndinyamekela umntwana wam?
• Ndifanele ndize nini kuvavanyo lwam olulandelayo?

Ukuxilongwa kweCrigler-Najjar Syndrome kunokuba ngumceli mngeni kumntwana nakubantu abamnyamekelayo. Kuyaqondakala ukuba uzive usoyika kwaye uxhalabile xa umntwana wakho ezalwa enesikhumba esimthubi namehlo. Ukuba uziva uxinezelekile, uxinezelekile, okanye uxhalabile ngelixa unyamekela umntwana wakho onesifo esinjalo, kubalulekile ukuthetha nomcebisi wezempilo yengqondo kwaye uzikhathalele. Xa uphilile kwaye unamandla, unokunceda umntwana wakho ukuba ahambe kolu hambo.

Ngoko ke, zeziphi izinto ekufuneka sizikhumbule? (Umyalezo Wokubuyela Ekhaya)

Isifo sikaCrigler-Najjar sisifo esingaqhelekanga kodwa esinokuba yingozi kwimfuza. Eyona nto ibalulekileyo kukufumanisa isifo kwangethuba uze uqale unyango olufanelekileyo.

• Ukuba i-jaundice yomntwana wakho (umbala otyheli) ibonakala ingaphezulu kunesiqhelo, okanye ukuba ibonakala ngathi iqhubeka ixesha elide, ngokuqinisekileyo bonana nogqirha. Musa ukuchitha ixesha.
• Kukho iintlobo ezimbini zale meko; i-CN1 yeyona inzima kakhulu kwaye ifuna unyango olukhawulezileyo nolunzulu.
• I-Phototherapy lolona nyango lusetyenziswa kakhulu. Kwi-CN1, ukufakelwa kwesibindi sesona sisombululo silungileyo nesihlala sihleli.
• Le yimeko yemfuza kwaye ayinakuthintelwa. Nangona kunjalo, kubalulekile ukufumana iingcebiso ngemfuza xa uceba usapho.

Into ebalulekileyo kukwazi ukuba awuwedwa. Ngoncedo loogqirha, usapho, kunye nabanye abazali abanabantwana abanjalo, ungajongana nalo mceli mngeni. Ngonyango olufanelekileyo kunye nenkathalo yothando, unokunceda umntwana wakho aphile ubomi obuhle, obuqhelekileyo kangangoko kunokwenzeka.

Isifo sikaCrigler -Najjar, iBilirubin, iJaundice, iSibindi, iSifo seMfuzo, iKernicterus, iPhototherapy, iiSana ezisandula ukuzalwa