Ingabe kukhona inkinga ngohlelo lokukhipha ubuthi emzimbeni wakho? Ake sifunde nge-Urea Cycle Disorder!

Sonke siyazi ukuthi imizimba yethu ithola izakhamzimba ezidingayo ekudleni esikudlayo. Futhi, phakathi nale nqubo, imizimba yethu ikhiqiza izinto ezingadingeki, ngezinye izikhathi ezinobuthi. Ngakho-ke, imizimba yethu inesimiso esimangalisayo sokuhlunga lobu buthi obungafuneki futhi sithwale izinto ezinhle emzimbeni wonke. Kodwa, kwenzekani uma kukhona ubuthakathaka kulesi simiso 'sokuhlunga'? Leso ngesinye sezinkinga ezibalulekile esizokhuluma ngazo namuhla.

Uyini uMjikelezo we-Urea? Masiwuqonde kalula!

Cabanga ngomjikelezo we-urea njengohlelo lokuhlunga olususa ubuthi emizimbeni yethu. Lusiza ekususeni izinto eziyingozi emizimbeni yethu futhi luthuthe izinto eziwusizo emzimbeni wonke.

Le nqubo iqala ngemva kokudla. Amaprotheni ekudleni esikudlayo ahlukaniswa ngaphakathi emizimbeni yethu abe ama-amino acid . Lawa ma-amino acid ayizingxenye eziyisisekelo zamaprotheni. Njengoba nje izitini zidingeka ukwakha isakhiwo, lawa ma-amino acid abalulekile ekwakheni imisipha, ekuthuthweni kwezakhamzimba, nasekugcineni izitho zisebenza kahle.

Manje, uma le phrotheni igaywa, kukhiqizwa igesi ebizwa ngokuthi i-ammonia njengomkhiqizo ongcolile. Le ammonia inobuthi kakhulu emzimbeni wethu. Ngakho-ke, ukuze kususwe le ammonia enobuthi, ama-enzyme emzimbeni wethu - okungukuthi, amaprotheni akhethekile enza ukusabela kwamakhemikhali - aguqula le ammonia ibe yinto engenangozi ebizwa ngokuthi i-urea esibindini. Le urea iqukethe amanye ama-amino acid amaningana kanye ne-ammonia:

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

Bese, la ma-enzyme athwala i-urea ngegazi aye ezinso. Isinyathelo sokugcina emjikelezweni we-urea ukukhipha le-urea emchameni wethu. Yileyo ndlela umjikelezo we-urea osebenza ngayo, ngamazwi alula.

Ngakho-ke, kuyini ukuphazamiseka komjikelezo we-urea?

I-Urea Cycle Disorder (UCD) iyiqembu lezimo lapho inqubo ehambisa i-urea kuwo wonke umzimba, njengoba sixoxile ngaphambili, ingasebenzi kahle. Lokhu kuvame ukubangelwa ukuntuleka noma ukuntuleka kweprotheni noma i-enzyme edingekayo kuleyo nqubo.

Lesi yisimo sofuzo , okusho ukuthi yinto ekhona kusukela ekuzalweni. Odokotela basibiza ngokuthi yi-Inborn Error of Metabolism . Lokhu kubangela ukuthi i-ammonia enobuthi iqoqeke egazini lethu. Lokhu kubizwa ngokuthi i-Hyperammonemia . Lesi simo sinomthelela omubi kakhulu emizimbeni yethu, ikakhulukazi ebuchosheni nakwezinye izitho zomzimba .

Ingabe zikhona izinhlobo zezinkinga zomjikelezo we-urea?

Yebo, kunezinkinga eziyisishiyagalombili ezaziwayo zomjikelezo we-urea. Ngayinye yazo ibangelwa ukuntuleka kwe-enzyme noma iphrotheni ethile edingekayo kumjikelezo we-urea:

• Ukuntuleka kwe-N-acetylglutamate synthase (NAGS)
• Ukuntuleka kwe-Carbamoylphosphate synthetase I (CPS1)
• Ukuntuleka kwe-Ornithine transcarbamylase (OTC)
• Ukuntuleka kwe-Argininosuccinate synthase 1 (ASS1) noma uhlobo lwe-Citrullinemia I
• Ukuntuleka kwe-Citrin noma uhlobo lwe-Citrullinemia II
• Ukuntuleka kwe-Argininosuccinic lyase (ASL)
• Ukuntuleka kwe-Arginase (ARG)
• Ukuntuleka kwe-Ornithine translocase

Nakuba lokhu kungase kuzwakale kungokwesayensi kancane, lokho okushiwo yiko ngakunye kwalokhu ukuthi kunenkinga esinyathelweni esithile emjikelezweni we-urea.

Ubani ongahlakulela lesi simo?

Lesi yisimo sofuzo esingathinta noma ubani. Izinsana zingatholakala ngokuhlolwa kwegazi okujwayelekile, okwenziwa zingakapheli izinsuku ezimbalwa zizelwe. Kodwa-ke, ngezinye izikhathi izimpawu zivela kamuva ekuphileni. Kuleso simo, abantu abadala bangatholakala benalesi sifo.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Yebo, ukuntuleka komjikelezo we-urea kuyisimo esizuzwe njengefa . Ezimweni eziningi, ukuze ube nalesi simo, udinga ukuzuza uguquko lwezakhi zofuzo oluvela kumama wakho nakubaba wakho. Lokhu kubizwa ngokuthi ukudluliselwa kwe -autosomal recessive . Ezinye izinhlobo zidluliselwa ezinganeni zakho ngemva kokukhulelwa, okuxhunywe ku-chromosome yocansi. Lokhu kubizwa ngokuthi ukudluliselwa kwe -X-linked .

Sivame kangakanani lesi simo?

E-United States, kulinganiselwa ukuthi lesi simo sithinta cishe umuntu oyedwa kwabangu-35,000. Nakuba izibalo eziqondile zingatholakali eSri Lanka, lesi sibhekwa njengesimo esingavamile.

Ziyini izimpawu zokuntuleka komjikelezo we-urea?

Izimpawu zokuqala zalesi simo zivame ukubonakala lapho umuntu ezalwa. Kodwa-ke, lezi zimpawu zingavela kunoma yimuphi ubudala. Bona ukuthi lezi zimpawu zizwakala zijwayelekile yini kuwe:

• Ukozela, ukukhathala ngokweqile (Ukudinwa)
• Ukukhala njalo nokungahlaliseki ezinganeni (Ukuxakeka ezinganeni)
• Isicanucanu noma ukuhlanza
• Awukwazi ukudla noma ukuphakela
• Ukuphefumula ngokushesha kakhulu noma kancane kakhulu
• Ukudideka, ukulahlekelwa ukwazi

Lezi zimpawu zibangelwa ukwanda kwenani le-ammonia egazini (i-Hyperammonemia). Lezi zimpawu zingahluka kusukela kokuncane kuya kokukhulu . Ungase ubone nezinto ezifana nalezi:

• Izinkinga ngentuthuko yokuqonda kanye nezinselele zobuhlakani
• Izinguquko zokuziphatha
• Ukulibaziseka kokukhula - Lokhu kusho ukuthi ukukhula komntwana akufanele iminyaka yakhe.
• Ukuqongelela koketshezi ebuchosheni (i-Cerebral Edema)
• Ukuqina kwemisipha, ukudikiza (i-Spasticity)
• Izimo zesifo sokuwa, ukuxhuzula
• Isimo sokungazi lutho, i-coma

Okubalulekile: Izimpawu ezithinta ubuchopho zingaba yingozi empilweni, ngakho-ke kubalulekile ukufuna iseluleko sezokwelapha ngokushesha uma unalezi zimpawu.

Iyini imbangela yalokhu?

Njengoba kushiwo ngaphambili, ukuntuleka komjikelezo we-urea kubangelwa ukuguquka kwezakhi zofuzo . Uhlobo ngalunye esixoxe ngalo ekuqaleni lubangelwa ukuguquka kwezakhi zofuzo okuhlukile:

• Ukuntuleka kwe-N-acetylglutamate synthase: ukuguqulwa kwezakhi zofuzo ze -NAGS .
• Ukuntuleka kwe-Carbamoylphosphate synthetase I: ukuguqulwa kwezakhi zofuzo ze- CPS1 .
• Ukuntuleka kwe-Ornithine transcarbamylase: ukuguquka kwezakhi zofuzo ze -OTC .
• Ukuntuleka kwe-Argininosuccinate synthase 1: ukuguqulwa kwezakhi zofuzo ze- ASS1 .
• Ukuntuleka kwe-Citrin: Ukuguquka kwezakhi zofuzo ze- SLC25A13 .
• Ukuntuleka kwe-Argininosuccinic lyase: ukuguqulwa kwezakhi zofuzo ze- ASL .
• Ukuntuleka kwe-Arginase: Ukuguquka kwezakhi zofuzo ze -ARG .
• Ukuntuleka kwe-Ornithine translocase: ukuguqulwa kwezakhi zofuzo ze- SLC25A15 .

Lezi zakhi zofuzo zinesibopho sokwenza amaprotheni nama-enzyme adingekayo ukuthutha i-urea emzimbeni wonke. Uma kwenzeka ushintsho lwezakhi zofuzo, umzimba awukhiqizi amaprotheni noma ama-enzyme anele. Ngemuva kwalokho, umzimba awukwazi ukususa i-ammonia enobuthi, eqoqana egazini futhi ibangele izimpawu.

Lesi simo sitholakala kanjani?

Udokotela wakho uzoqala ngokubuza ngezimpawu zakho, enze ukuhlolwa ngokomzimba, bese ethatha umlando ophelele wezokwelapha. Ngemuva kwalokho, angase acele ukuhlolwa kwegazi noma komchamo ukuqinisekisa isimo.

Yiziphi izivivinyo ezenziwayo ngalokhu?

• Iphrofayili noma ukuhlaziywa kwe-amino acid: Isampula yegazi noma umchamo wakho ilinganisa amazinga ama-amino acid emzimbeni wakho.
• Ukuhlolwa Kwesibindi: Kuthathwa ingxenye encane kakhulu yesibindi bese ihlolwa ngaphansi kwe-microscope ukuze kubonakale ukuthi kukhona yini ama-enzyme ahlobene nalesi simo nokuthi asebenza kanjani.
• Ukuhlolwa Kwezakhi Zofuzo: Kuthathwa isampula yegazi ukuze kuhlolwe izinguquko zofuzo ezingase zibangele izimpawu zakho.

Kuphathwa kanjani lokhu?

Umgomo oyinhloko wokwelapha izinkinga zomjikelezo we-urea ukunciphisa inani le-ammonia egazini. Lokhu kungenziwa ngokuthi:

• Ukudla ukudla okunephrotheni eningi.
• I-Dialysis: Inqubo esetshenziswa ukususa ubuthi egazini. Lokhu kubizwa nangokuthi i-hemodialysis .
• Ukusetshenziswa kwemithi: Imithi efana ne-Sodium Phenylacetate kanye ne-Sodium Benzoate (isib. i-Ammonul® ) isiza ukususa i-ammonia egazini.
• Ukuthatha Izithasiselo ze-Amino Acid: Izithasiselo ezifana ne-Arginine noma i-Citrulline zisiza umzimba ukuqeda umjikelezo we-urea.

Ezimweni ezimbi kakhulu ze-hyperammonemia, kungadingeka ukufakelwa isibindi .

Ngaphambi kokuqala ukwelashwa, khuluma nodokotela wakho ngemiphumela emibi yemithi emisha kanye nezinqubo. Futhi, tshela udokotela wakho nganoma yimiphi eminye imithi noma izithasiselo ozithathayo njengamanje. Lokhu kungakusiza ugweme imiphumela emibi engafuneki.

Uma unesifo somjikelezo we-urea, yikuphi ukudla okufanele ukugweme?

Ukudla okunephrotheni encane kuyindlela engcono kakhulu yokuphatha lesi simo. Lokhu kungenxa yokuthi lapho iphrotheni ekudleni esikudlayo ihlakazeka, kwakheka ama-amino acid, abese ekhiqiza i-ammonia. Umuntu onenkinga yomjikelezo we-urea akakwazi ukususa le ammonia ngokwemvelo. Ngakho-ke, ukudla ukudla okunephrotheni encane kunganciphisa ingozi yokuthi i-ammonia iqongeleleke egazini.

Nazi ezinye zokudla okuyinhloko okucebile ngamaprotheni okufanele uzinciphise ekudleni kwakho:

• Inhlanzi
• Inyama yenkukhu
• Amaqanda
• Inyama yenkomo
• Izinhlobo zobhontshisi
• I-Tofu noma ukudla okuqukethe i-soy

Kodwa-ke, njengoba iphrotheni ibalulekile emizimbeni yethu, ukuyikhipha ngokuphelele kungaba nemiphumela emibi, njengokukhula okubambezelekile. Ngakho-ke, udokotela wakho angakuthumela kuchwepheshe wezokudla noma kuchwepheshe wezokudla . Bangakusiza ukulawula inani lephrotheni oyidlayo. Ngezinye izikhathi, udokotela wakho angase futhi ancome ukuthatha izithasiselo zamavithamini, amaminerali, noma ama-amino acid ukusiza ekulungiseni ukuntuleka kokudla okunempilo okubangelwa ukuvinjelwa kwamaprotheni.

Ingabe umntwana osanda kuzalwa anganceliswa uma enalesi simo?

Ingane yakho ithola amaprotheni obisini lwebele. Nakuba ungancelisa, udokotela wakho uvame ukuqapha ukuthi athinta kanjani ingane yakho. Uma udinga ukunciphisa ukudla amaprotheni engane yakho, udokotela wakho angase akuncome ukuthi unike ingane yakho ubisi lwebele olukhethekile esikhundleni sobisi lwebele.

Ingabe lesi simo singavinjelwa?

Lesi yisimo sofuzo futhi asinakuvinjelwa. Uma uhlela ukukhulelwa futhi ufuna ukwazi ingozi yokuba nengane enesifo sofuzo, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo .

Luhlobo luni lwethemba umuntu onesifo somjikelezo we-urea angaba nalo?

Uma nje udokotela wakho ethola lesi simo, uzoqala ukwelashwa ukuze anciphise inani le-ammonia egazini. Kwabasanda kuzalwa, ukwelashwa kuzoqala ngokushesha ngemva kokuzalwa ukuze kuvinjelwe izinkinga. Uma ukwelashwa sekuqalile, udokotela uzoqapha izinga le-ammonia egazini kuze kube yilapho libuyela ezingeni eliphephile.

Lesi simo sidinga ukubhekwa impilo yonke kanye nokudla okukhethekile okungenamaprotheni amaningi . Ukudla amaprotheni amaningi kungabangela izimpawu zokubuya.

Uma i-hyperammonemia iba yimbi kakhulu, ingaholela ekulimaleni kobuchopho okungenakuguqulwa, e-coma, noma ngisho nasekufeni. Ngakho-ke, khuluma nodokotela wakho mayelana nendlela yokuphatha isimo sakho noma isimo sengane yakho ukuze ugweme lezi zinkinga ezisongela ukuphila.

Iyini iphrojekthi yokululama kulesi simo?

Umbono wakho uncike ebunzimeni bezimpawu zakho. Uma kutholakale kusenesikhathi, kwelashwa, futhi kulawulwa impilo yakho yonke, isikhathi sakho sokuphila singaba yinto evamile. Kodwa-ke, uma kungelashwa noma kungatholakalanga, kungaba yingozi.

Kufanele ngimbone nini udokotela?

Uma unezimpawu zalesi simo, ikakhulukazi uma uzizwa ukhathele kakhulu noma ungakwazi ukudla , bona udokotela.

Njengoba ingane yakho ikhula, kubalulekile ukuhlola ukuthi iyahlangabezana yini nezigaba zayo zokukhula . Okusho ukuthi, uma yenza izinto ezifanelana nobudala bayo. Ngaphandle kwalokho, bona udokotela.

Uma wena noma ingane yakho ninesithuthwane noma ninenkinga yokuphefumula, yiyani ekamelweni lezimo eziphuthumayo esibhedlela ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

• Ngingasiphatha kanjani isimo sengane yami?
• Ingabe kufanele ngibone isazi sokudla okunempilo?
• Iyini imiphumela emibi yokwelashwa?
• Yikuphi ukudla okufanele ngikuyeke?

Kuvamile ukuzizwa ukhathazekile uma uthola ukuthi wena noma ingane yakho inalesi simo esingavamile sofuzo. Udokotela wakho angakusiza ukuthi uphathe lesi simo. Ngokudla ukudla okunamaphrotheni aphansi, unganciphisa indlela lesi simo esithinta ngayo umzimba wakho. Lokhu kungasiza ekunciphiseni izimpawu futhi kukusize uzizwe ungcono. Uma uzizwa ukhathele ngaso sonke isikhathi, unenkinga yokudla, noma unezinguquko ezingavamile ekuziphatheni kwakho, qiniseka ukuthi ubona udokotela.

Izinto ezibalulekile okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ngakho-ke sesikhulume kakhulu nge-Urea Cycle Disorder. Ngamafuphi, nazi izinto ezimbalwa okufanele uzikhumbule:

• Lesi yisimo sofuzo: kusho ukuthi yinto ozalwa nayo. Okwenzekayo lapha ukuthi imizimba yethu ayikwazi ukususa kahle into enobuthi ebizwa ngokuthi i-ammonia.
• Kubaluleke kakhulu ukuqaphela kusenesikhathi:Ikakhulukazi ezinsaneni ezisanda kuzalwa. Uma ubona izimpawu, funa iseluleko sezokwelapha ngokushesha.
• Kunezindlela zokwelapha: Into eyinhloko ukulawula izinga le-ammonia egazini. Lokhu kungenziwa ngokudla okunamaphrotheni aphansi, imithi, kanye nezinye izindlela zokwelapha.
• Kudingeka ukuphathwa impilo yonke: Uma kuphathwa kahle, abantu abaningi bangaphila impilo evamile.
• Landela iseluleko sezokwelapha: Kubaluleke kakhulu empilweni yakho ukulandela iseluleko esinikezwa udokotela wakho kanye nochwepheshe wezokudla.

Ungesabi. Into ebaluleke kakhulu ukuqaphela lesi simo nokuthola usizo olufanele lwezokwelapha. Uma uneminye imibuzo, ungesabi ukukhuluma nodokotela wakho.

Umjikelezo we - urea, i-ammonia, izifo zofuzo, i-protein metabolism, i-hyperammonemia, izifo zezingane, izinkinga ze-metabolic