Oonobangela be-Alagille syndrome kunye nendlela yokunyanga

Umxholo

• Iimpawu ezinokwenzeka
• Unobangela wesifo seAlagille
• Ukuchongwa kwesifo seAlagille
• Unyango lwezifo zeAlagille

I-Alagille syndrome sisifo esinqabileyo semfuza esichaphazela kakubi amalungu amaninzi, ngakumbi isibindi nentliziyo, kwaye sinokubulala. Esi sifo sibonakaliswa kukungonelanga kwe-bile kunye ne-hepatic ducts, ke oko kukhokelela ekufumaneni inyongo esibindini, ethintela ukuba isebenze ngokwesiqhelo ukuphelisa inkunkuma egazini.

Iimpawu zisabonakala ebuntwaneni, kwaye inokuba sisizathu se-jaundice yexesha elide kwiintsana. Ngamanye amaxesha, iimpawu zinokungabonwa, zingabangeli monakalo mkhulu kwaye kwiimeko ezinzima kunokuba yimfuneko ukufakelwa amalungu achaphazelekayo.

Iimpawu ezinokwenzeka

Ukongeza kwi-bile duct insufficiency, i-Alagille syndrome ibangela iimpawu ezahlukeneyo kunye neempawu ezinje:

• Isikhumba esimthubi;
• Amabala wamehlo;
• Amathambo omqolo amile okwibhabhathane;
• Ukujikeleza ibunzi, isilevu kunye nempumlo;
• Iingxaki zentliziyo;
• Ukulibaziseka kophuhliso;
• Ukurhawuzelela ngokubanzi;
• I-cholesterol ifakwa kwisikhumba;
• Iipheripheral pulmonary stenosis;
• Utshintsho lwamehlo.

Ukongeza kwezi mpawu, ukusilela kwesibindi nako kunokubakho ngokuqhubekayo, ukungaqheleki kwentliziyo kunye nezintso. Ngokubanzi, esi sifo sizinza phakathi kweminyaka emi-4 ukuya kweli-10 ubudala, kodwa xa kukho ukusilela kwesibindi okanye ukonakala kwentliziyo, umngcipheko wokufa mkhulu.

Unobangela wesifo seAlagille

Isifo i-Alagille syndrome sisifo esizimeleyo esihamba nesifo, oko kuthetha ukuba xa omnye wabazali bomntwana enale ngxaki, umntwana unamathuba angama-50% okuba nesifo. Nangona kunjalo, utshintsho olunokubakho emntwaneni, nokuba bobabini abazali basempilweni.

Esi sifo sibangelwa ngenxa yotshintsho okanye utshintsho kulandelelwano lwe-DNA olubambe uhlobo oluthile, olubekwe kwi-chromosome 20, enoxanduva lokusebenza okuqhelekileyo kwesibindi, intliziyo kunye namanye amalungu, ebangela ukuba angasebenzi kakuhle.

Ukuchongwa kwesifo seAlagille

Kuba ibangela iimpawu ezininzi, ukuxilongwa kwesi sifo kunokwenziwa ngeendlela ezininzi, ezona zixhaphakileyo sisibindi sesibindi.

Uvavanyo lweempawu kunye neempawu

Ukuba ulusu lutyheli, okanye ukuba kukho ukungahambi kakuhle kobuso kunye nomqolo, iingxaki zentliziyo nezintso, utshintsho lwamehlo, okanye ukulibaziseka kophuhliso, kunokwenzeka ukuba umntwana abe nesifo. Nangona kunjalo, kukho ezinye iindlela zokufumanisa isifo.

Ukulinganisa ukusebenza kwepancreas

Iimvavanyo zinokwenziwa ukuvavanya ukusebenza kwepancreas, ukumisela ukuba mangaphi amanqatha afunxwayo kukutya okutyiwa ngumntwana, ngohlalutyo lwelindle. Nangona kunjalo, kufuneka kwenziwe olunye uvavanyo, njengoko olu vavanyo lodwa lunokuba sisalathiso sezinye izifo.

Uvavanyo lwe-cardiologist

I-cardiologist iyakwazi ukubona ingxaki ye-cardiac ngokusebenzisa i-echocardiogram, equlethwe yi-ultrasound yentliziyo ukubona isakhiwo kunye nokusebenza, okanye nge-electrocardiogram eyenza isilinganiselo senhliziyo.

Uvavanyo olwenziwa ngugqirha wamehlo

Ugqirha wamehlo angenza uvavanyo lwamehlo olukhethekileyo ukuze afumane nakuphi na ukungaqheleki, nakuphi na ukuphazamiseka kwiso okanye utshintsho kumbala kwi-retina.

Uvavanyo lwe-X-ray yomqolo 

Ukwenza i-X-ray emqolo kunokunceda ekuboneni amathambo omqolo emile okwibhabhathane, esisona siphako sixhaphakileyo esihambelana nesi sifo.

Unyango lwezifo zeAlagille

Esi sifo asinalo unyango, nangona kunjalo, ukuphucula iimpawu kunye nomgangatho wobomi, iziyobisi ezilawula ukuhamba kwe-bile ziyacetyiswa, ezinje nge-Ursodiol kunye neevithamini ezininzi ezinevithamini A, D, E, K, calcium kunye ne-zinc ukuze kulungiswe ukusilela kwesondlo okunokuthi zenzeka ngenxa yesi sifo.

Kwiimeko ezinzima kakhulu, kunokuba yimfuneko ukubhenela kotyando okanye ukufakelwa kwamalungu afana nesibindi nentliziyo.