Ngaba kukho ingxaki kwinkqubo yokukhupha ubuthi emzimbeni wakho? Masifunde nge-Urea Cycle Disorder!

Sonke siyazi ukuba imizimba yethu ifumana izondlo ezifunekayo ekutyeni esikutyayo. Kwakhona, ngeli xesha le nkqubo, imizimba yethu ivelisa izinto ezingafunekiyo, ngamanye amaxesha ezinobungozi. Ngoko ke, imizimba yethu inenkqubo emangalisayo yokucoca ezi tyhefu zingafunekiyo kwaye ithwale izinto ezilungileyo emzimbeni wonke. Kodwa, kwenzeka ntoni ukuba kukho ubuthathaka kule nkqubo 'yokucoca'? Le yenye yemiba ebalulekileyo esiza kuthetha ngayo namhlanje.

Yintoni i-Urea Cycle? Masiyiqonde ngokulula!

Cinga ngomjikelo we-urea njengenkqubo yokucoca esusa ubuthi emizimbeni yethu. Inceda ekususeni izinto eziyingozi emizimbeni yethu kwaye ithuthe izinto eziluncedo emzimbeni wonke.

Le nkqubo iqala emva kokutya. Iiproteni ekutyeni esikutyayo ziyaqhekeka ngaphakathi emizimbeni yethu zibe zii-amino acids . Ezi amino acids ziiyunithi ezisisiseko zeeproteni. Njengokuba izitena zifuneka ukwakha isakhiwo, ezi amino acids zibalulekile ekwakheni izihlunu, ekuthuthweni kwezondlo, nasekugcineni amalungu omzimba esebenza kakuhle.

Ngoku, xa le protein ityiwa, kuveliswa igesi ebizwa ngokuba yi-ammonia njengenkunkuma. Le ammonia iyingozi kakhulu emzimbeni wethu. Ngoko ke, ukuze kususwe le ammonia inobungozi, ii-enzymes emzimbeni wethu - oko kukuthi, iiproteni ezikhethekileyo ezenza iikhemikhali - ziguqula le ammonia ibe yinto engenabungozi ebizwa ngokuba yi-urea esibindini. Le urea iqulethe ezinye ii-amino acids ezininzi kunye ne-ammonia:

• I-Arginine
• I-Ornithine
• I-Citrulline

Emva koko, ezi enzymes zithwala i-urea ngegazi ukuya kwizintso. Inyathelo lokugqibela kumjikelo we-urea kukukhupha le urea kumchamo wethu. Yindlela esebenza ngayo umjikelo we-urea, ngamazwi alula.

Ngoko ke, yintoni ingxaki yomjikelo we-urea?

Ingxaki yoMjikelo we-Urea (UCD) liqela leemeko apho inkqubo ehambisa i-urea emzimbeni wonke, njengoko besitshilo ngaphambili, ingasebenzi kakuhle. Oku kudla ngokubangelwa kukunqongophala okanye ukunqongophala kweproteni okanye i-enzyme efunekayo kuloo nkqubo.

Le yimeko yemfuza , oko kuthetha ukuba yinto ekhoyo ukususela ekuzalweni. Oogqirha bayibiza ngokuba yi-Inborn Error of Metabolism . Oku kubangela ukuba i-ammonia enobuthi iqokelele egazini lethu. Oku kubizwa ngokuba yi -Hyperammonemia . Le meko inefuthe elibi kakhulu emizimbeni yethu, ingakumbi ingqondo kunye nezinye izitho zomzimba .

Ngaba kukho iintlobo zeengxaki zomjikelo we-urea?

Ewe, kukho iingxaki ezisibhozo ezaziwayo zomjikelo we-urea. Nganye kuzo ibangelwa kukunqongophala kwe-enzyme ethile okanye iproteni efunekayo kumjikelo we-urea:

• Ukunqongophala kwe-N-acetylglutamate synthase (NAGS)
• Ukunqongophala kweCarbamoylphosphate synthetase I (CPS1)
• Ukunqongophala kwe-Ornithine transcarbamylase (OTC)
• Ukungabikho kwe-Argininosuccinate synthase 1 (ASS1) okanye uhlobo lweCitrullinemia I
• Ukungabikho kweCitrin okanye uhlobo lweCitrullinemia II
• Ukunqongophala kwe-Argininosuccinic lyase (ASL)
• Ukunqongophala kwe-Arginase (ARG)
• Ukunqongophala kwe-Ornithine translocase

Nangona oku kusenokuvakala ngathi yinzululwazi, into ethethwa yile nganye kwezi kukuba kukho ingxaki kwinqanaba elithile kumjikelo we-urea.

Ngubani onokuhlakulela le meko?

Le yimeko yemfuza enokuchaphazela nabani na. Iintsana ezisandul’ ukuzalwa zinokufunyaniswa ukuba zine- Universal Newborn Screening Blood Tests, ezenziwa kwiintsuku ezimbalwa emva kokuzalwa. Nangona kunjalo, ngamanye amaxesha iimpawu ziyavela kamva ebomini. Kwimeko enjalo, abantu abadala banokufunyaniswa ukuba banaso esi sifo.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Ewe, ukungabikho komjikelo we-urea yimeko ezuzwe njengelifa . Kwiimeko ezininzi, ukuze ube nale meko, kufuneka ufumane i-genetic mutation evela kumama wakho nakutata wakho. Oku kubizwa ngokuba yi -autosomal recessive transmission. Ezinye iintlobo zidluliselwa ebantwaneni bakho emva kokukhulelwa, ezidibene ne-sex chromosome. Oku kubizwa ngokuba yi -X-linked transmission.

Ixhaphake kangakanani le meko?

E-United States, kuqikelelwa ukuba le meko ichaphazela umntu omnye kwabangama-35,000. Nangona amanani achanekileyo engafumaneki eSri Lanka, le meko ithathwa njengengaqhelekanga.

Zithini iimpawu zokungabikho komjikelo we-urea?

Iimpawu zokuqala zale meko zihlala zibonakala ekuzalweni. Nangona kunjalo, ezi mpawu zinokuvela nakweyiphi na iminyaka. Jonga ukuba ezi mpawu zivakala ziqhelekile na kuwe:

• Ukozela, ukudinwa kakhulu (ukudinwa)
• Ukukhala rhoqo nokungazoli kwiintsana (Ukuxakeka kwiintsana)
• Isicaphucaphu okanye ukuhlanza
• Andikwazi ukutya okanye ukondla
• Ukuphefumla ngokukhawuleza kakhulu okanye kancinci kakhulu
• Ukudideka, ukulahlekelwa zingqondo

Ezi mpawu zibangelwa kukwanda komthamo we-ammonia egazini (i-Hyperammonemia). Ezi mpawu zinokuqala kwezincinci ukuya kwezinzima . Ungabona nezinto ezifana nezi:

• Iingxaki zophuhliso lwengqondo kunye nemingeni yengqondo
• Utshintsho kwindlela yokuziphatha
• Ukulibaziseka kokukhula - Oku kuthetha ukuba ukukhula komntwana akufanelekanga ngokweminyaka yakhe.
• Ukuqokelelana kolwelo olujikeleze ingqondo (i-Cerebral Edema)
• Ukuqina kwemisipha, ukuxhuzula (i-Spasticity)
• Iimeko zokuxhuzula, ukuxhuzula
• Imeko yokungazi nto, i-coma

Kubalulekile: Iimpawu ezichaphazela ingqondo zingasongela ubomi, ngoko ke kubalulekile ukufuna iingcebiso zonyango ngokukhawuleza ukuba unale mpawu.

Yintoni isizathu soku?

Njengoko bekutshiwo ngaphambili, ukungabikho komjikelo we-urea kubangelwa kukuguquka kwezakhi zofuzo . Uhlobo ngalunye esixoxe ngalo ngaphambili lubangelwa kukuguquka kwezakhi zofuzo okwahlukileyo:

• Ukungabikho kwe-N-acetylglutamate synthase: utshintsho kwi-gene ye-NAGS .
• Ukunqongophala kweCarbamoylphosphate synthetase I: utshintsho kwi- CPS1 gene.
• Ukusilela kwe-Ornithine transcarbamylase: utshintsho kwi-gene ye-OTC .
• Ukunqongophala kwe-Argininosuccinate synthase 1: utshintsho kwi-gene ye -ASS1 .
• Ukunqongophala kweCitrin: Utshintsho kwi- SLC25A13 gene.
• Ukungabikho kwe-Argininosuccinic lyase: utshintsho kwi-gene ye -ASL .
• Ukunqongophala kwe-Arginase: Utshintsho kwi- ARG gene.
• Ukungabikho kwe-Ornithine translocase deficiency: utshintsho kwi- SLC25A15 gene.

Ezi jini zinoxanduva lokwenza iiproteni kunye nee-enzymes ezifunekayo ukuhambisa i-urea emzimbeni wonke. Xa kwenzeka utshintsho lwe-genetic, umzimba awuvelisi ngokwaneleyo ezi proteni okanye ii-enzymes. Emva koko, umzimba awukwazi ukususa i-ammonia enobuthi, eqokelelana egazini kwaye ibangele iimpawu.

Ifunyaniswa njani le meko?

Ugqirha wakho uza kuqala akubuze ngeempawu zakho, enze uvavanyo lomzimba, aze athathe imbali epheleleyo yezonyango. Emva koko, banokuyalela uvavanyo lwegazi okanye lomchamo ukuqinisekisa imeko.

Zeziphi iimvavanyo ezenziwayo koku?

• Iprofayili okanye uhlalutyo lwe-amino acid: Isampulu yegazi okanye yomchamo wakho ilinganisa amanqanaba ee-amino acid emzimbeni wakho.
• I-Biopsy yesibindi: Iqhekeza elincinci kakhulu lesibindi liyathathwa lize lihlolwe phantsi kwe-microscope ukuze kubonwe ukuba kukho ii-enzymes ezinxulumene nale meko kunye nendlela ezisebenza ngayo.
• Uvavanyo lweMfuzo: Kuthathwa isampulu yegazi ukujonga utshintsho lwemfuza olunokubangela iimpawu zakho.

Iphathwa njani le nto?

Injongo ephambili yokunyanga iingxaki zomjikelo we-urea kukunciphisa ubungakanani be-ammonia egazini. Oku kungenziwa ngoku:

• Ukutya ukutya okuneproteni encinci.
• I-Dialysis: Inkqubo esetyenziselwa ukususa ubuthi egazini. Oku kukwabizwa ngokuba yi-hemodialysis .
• Ukusetyenziswa kwamayeza: Amayeza anjengeSodium Phenylacetate kunye neSodium Benzoate (umz. iAmmonul® ) anceda ukususa i-ammonia egazini.
• Ukuthatha izongezo ze-Amino Acid: Izongezo ezifana ne-Arginine okanye i-Citrulline zinceda umzimba ugqibezele umjikelo we-urea.

Kwiimeko ezinzima kakhulu ze-hyperammonemia, ukufakelwa kwesibindi kunokufuneka.

Ngaphambi kokuba uqale unyango, thetha nogqirha wakho malunga nemiphumo emibi yamayeza amatsha kunye neenkqubo. Kwakhona, xelela ugqirha wakho malunga neminye imithi okanye izongezo ozisebenzisayo ngoku. Oku kunokukunceda uphephe iziphumo ebezingalindelekanga.

Ukuba unesifo sokujikeleza kwe-urea, zeziphi ukutya omele uziphephe?

Ukutya okuneproteni encinci yeyona ndlela ilungileyo yokulawula le meko. Oku kungenxa yokuba xa iproteni ekutyeni esikutyayo yaphulwe, kwakheka ii-amino acids, ezithi emva koko zivelise i-ammonia. Umntu onesifo sokujikeleza kwe-urea akanakuyisusa ngokwemvelo le ammonia. Ngoko ke, ukutya ukutya okuneproteni encinci kunokunciphisa umngcipheko wokuba i-ammonia iqokelele egazini.

Nazi ezinye zezona zinto ziphambili zokutya ezityebileyo kwiproteni ekufuneka uzinciphise ekutyeni kwakho:

• Intlanzi
• Inkukhu
• Amaqanda
• Inyama yenkomo
• Iintlobo zeembotyi
• I-Tofu okanye ukutya okunesoya

Nangona kunjalo, ekubeni iprotheyini ibalulekile emizimbeni yethu, ukuyisusa ngokupheleleyo kunokuba nemiphumo emibi, njengokukhula okungalindelekanga. Ke ngoko, ugqirha wakho unokukuthumela kwingcali yokutya okanye kwingcali yesondlo . Banokukunceda ulawule ubungakanani beprotheyini oyityayo. Ngamanye amaxesha, ugqirha wakho unokucebisa nokuba uthathe izongezo zevithamini, iiminerali, okanye i-amino acid ukunceda ekulungiseni ukunqongophala kwesondlo okubangelwa kukunqongophala kweprotheyini.

Ngaba umntwana osandul’ ukuzalwa angancanciswa ukuba unale meko?

Umntwana wakho ufumana iproteni kubisi lwebele. Nangona unokuncancisa, ugqirha wakho uhlala ejonga indlela oluchaphazela ngayo umntwana wakho. Ukuba ufuna ukunciphisa ukutya iiproteni zomntwana wakho, ugqirha wakho unokucebisa ukuba unike umntwana wakho ubisi lwebele olukhethekileyo endaweni yobisi lwebele.

Ngaba le meko ingathintelwa?

Le yimeko yemfuza kwaye ayinakuthintelwa. Ukuba uceba ukukhulelwa kwaye ufuna ukwazi umngcipheko wokuba nomntwana onesifo semfuza, thetha nogqirha wakho malunga neengcebiso zemfuza .

Luhlobo luni lwethemba umntu onesifo sokujikeleza kwe-urea anokuba nalo?

Nje ukuba ugqirha wakho ayifumanise le meko, uza kuqala unyango lokunciphisa ubungakanani be-ammonia egazini. Kwiintsana ezisandula ukuzalwa, unyango luza kuqala kwangoko emva kokuzalwa ukuthintela iingxaki. Nje ukuba unyango luqalisiwe, ugqirha uza kujonga izinga le-ammonia egazini de libuyele kwinqanaba elikhuselekileyo.

Le meko ifuna ukujongwa ubomi bonke kunye nokutya okukhethekileyo okungenaproteni eninzi . Ukutya iiproteni ezininzi kunokubangela ukuba iimpawu zibuye.

Ukuba i-hyperammonemia iba mandundu, inokukhokelela ekonakaleni kwengqondo okungenakuguqulwa, kwi-coma, okanye nasekufeni. Ngoko ke, thetha nogqirha wakho malunga nendlela yokulawula imeko yakho okanye imeko yomntwana wakho ukuze uphephe ezi ngxaki zisongela ubomi.

Ithini ingqikelelo yokuchacha kule meko?

Imbono yakho ixhomekeke kubukhali beempawu zakho. Ukuba zifunyenwe kwangethuba, zanyangwa, zaze zalawulwa ubomi bakho bonke, ixesha ophila ngalo linokuba yinto eqhelekileyo. Nangona kunjalo, ukuba azinyangwa okanye azifunyaniswanga, zinokubulala.

Ndifanele ndimbone nini ugqirha?

Ukuba uneempawu zale meko, ingakumbi ukuba uzive udiniwe kakhulu okanye awukwazi ukutya , bona ugqirha.

Njengoko umntwana wakho ekhula, kubalulekile ukujonga ukuba uyahlangabezana na nemigangatho yakhe yokukhula . Oko kukuthi, ukuba wenza izinto ezihambelana nobudala bakhe. Ngaphandle koko, bonana nogqirha.

Ukuba wena okanye umntwana wakho unesithuthwane okanye unengxaki yokuphefumla, yiya kwigumbi likaxakeka esibhedlele ngokukhawuleza.

Ndingayibuza yiphi imibuzo ugqirha wam?

• Ndingayilawula njani imeko yomntwana wam?
• Ngaba kufuneka ndiye kwingcali yesondlo?
• Zithini iziphumo ebezingalindelekanga zonyango?
• Ziziphi ukutya ekufuneka ndizisuse?

Kuqhelekile ukuba uzive uxhalabile xa ufumanisa ukuba wena okanye umntwana wakho unesi sifo esingaqhelekanga semfuza. Ugqirha wakho anokukunceda ulawule esi sifo. Ngokutya ukutya okuneproteni ephantsi, unganciphisa indlela esi sifo esichaphazela ngayo umzimba wakho. Oku kunokunceda ukunciphisa iimpawu kwaye kukuncede uzive ungcono. Ukuba uziva udiniwe ngalo lonke ixesha, unengxaki yokutya, okanye unenguqu engaqhelekanga kwindlela oziphatha ngayo, qiniseka ukuba ubona ugqirha.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ngoko ke sithethe kakhulu nge-Urea Cycle Disorder. Ngamafutshane, nazi izinto ezimbalwa ekufuneka uzikhumbule:

• Le yimeko yemfuza: ithetha ukuba yinto ozalwa nayo. Okwenzekayo apha kukuba imizimba yethu ayikwazi ukususa ngokufanelekileyo into enobuthi ebizwa ngokuba yi-ammonia.
• Kubaluleke kakhulu ukuqaphela kwangethuba:Ingakumbi kwiintsana ezisandul’ ukuzalwa. Ukuba ubona iimpawu, funa ingcebiso kagqirha ngokukhawuleza.
• Kukho unyango: Eyona nto iphambili kukulawula inqanaba le-ammonia egazini. Oku kungenziwa ngokutya okuneproteni ephantsi, amayeza, kunye nolunye unyango.
• Ulawulo lobomi bonke luyafuneka: Ukuba lulawulwa ngokufanelekileyo, uninzi lwabantu lunokuphila ubomi obuqhelekileyo.
• Landela icebiso lezonyango: Kubaluleke kakhulu kwimpilo yakho ukulandela icebiso elinikwe ngugqirha wakho kunye nengcali yesondlo ngokuchanekileyo.

Musa ukoyika. Eyona nto ibalulekileyo kukwazi le meko kwaye ufumane uncedo olufanelekileyo lwezonyango. Ukuba uneminye imibuzo, ungoyiki ukuthetha nogqirha wakho.

Umjikelo we - Urea, i-ammonia, izifo zemfuza, imetabolism yeproteni, i-hyperammonemia, izifo zabantwana, iingxaki zemetabolism