Ingaba oku kukwanda kwe-ammonia emzimbeni wakho? Masifunde ngokuswelakala kwe-OTC!

Mhlawumbi ukhe weva ukuba ukuba imizimba yethu ayinazo izinto ezithile, iingxaki ezinkulu zinokuvela. Yiyo loo nto ibangela ukungabikho kwe-OTC. Khawucinge ukuba bekuya kwenzeka ntoni ukuba isibindi sakho besingenazo i-enzyme efunekayo ukuze sisebenze kakuhle? Nangona eli libali elibalulekileyo, kukho unyango olufanelekileyo. Makhe sithethe ngale nto ngokweenkcukacha, akunjalo?

Yintoni kanye kanye le ngxaki ye-OTC?

Ngamafutshane, ukungabikho kwe-OTC kuthetha ukuba isibindi sakho asikwazi ukuvelisa i-enzyme ebizwa ngokuba yi-Ornithine Transcarbamylase (OTC). Le enzyme ye-OTC ibaluleke kakhulu kuba inceda ukususa into enobuthi ebizwa ngokuba yi-ammonia egazini lethu. Ngoko ke xa le enzyme iphantsi, i-ammonia iqala ukuqokelelana emzimbeni. Oku kukuphazamiseka komjikelo we-urea .

Ngoku masibone ukuba oku kwenzeka njani . Xa sitya iproteni, iibhaktheriya ezisemathunjini ethu ziqhekeza iproteni zize zivelise i-ammonia njengenkunkuma. Emva koko isibindi sethu sithatha le ammonia size siyiguqule ibe yi-urea kwinkqubo ebizwa ngokuba yi-urea cycle. Yiyo loo nto i-enzyme ye-OTC isetyenziselwa yona. Emva koko izintso zethu zihluza le urea egazini zize ziyikhuphe njengomchamo. Uyaqonda? Ngoko ke xa i-OTC iphelile, yonke le nkqubo iyaphela.

Ziziphi iintlobo eziphambili zale meko?

Ukungabikho kwe-OTC kwahlulwe kakhulu kwiindidi ezintathu, kuxhomekeke kwixesha elithathayo ukuba iimpawu zibonakale:

• Uhlobo lweentsana ezisandul’ ukuzalwa: Olu lolona hlobo lunzima kakhulu. Iimpawu zibonakala kwiintsuku ezingama-30 zokuqala zokuzalwa. Ezi zingane zifuna unyango olukhawulezileyo.
• Uhlobo oluphakathi: Oku kudla ngokuchaphazela abantwana abaneminyaka eqala kwinyanga enye ukuya kwiminyaka eli-16 ubudala.
• Uhlobo lokuqalisa emva kwexesha: Oku kunokuvela emva kweminyaka eli-16, ngamanye amaxesha kuze kube semva kweminyaka engama-60. Olu lolona luhlu luncinci kakhulu kwezinye iintlobo ezimbini.

Ngubani onokuthi abe nobunzima bokunqongophala kwe-OTC?

Ukungabikho kwe-OTC yingxaki engaqhelekanga . Nangona kunjalo, sesona sifo sixhaphakileyo kwizifo zomjikelo we-urea. Ngokutsho kwabaphandi, sinokuchaphazela umntu omnye kwi-14,000 okanye umntu omnye kwi-80,000 kwihlabathi liphela. Ngaphezu koko, le meko ichaphazela abafana rhoqo kwaye imbi kakhulu .

Ziziphi iimpawu zokungabikho kwe-OTC?

Iimpawu zesi sifo ziyahluka ngokuxhomekeke kwixesha esiqala ngalo. Kwiintsana ezisandul’ ukuzalwa, iimpawu zinzima kakhulu. Ezi mpawu zixhaphake kakhulu emva kokutya ukutya okuneproteni eninzi.

Iimpawu kwiintsana ezisandul’ ukuzalwa

Ukuba umntwana unesi sifo, unokubona izinto ezifana nale:

• Bayala ukutya okanye ukusela, kwaye abaseli ubisi.
• Ukuhlanza rhoqo.
• Ndixhalabile kakhulu, ndisoloko ndilila.
• Ndisoloko ndiziva ndilele kwaye ndingenabomi (`Ukudinwa`).
• Kusenokubakho ukuxhuzula.
• Umzimba ongenabomi, njengelaphu (`Hypotonia`).
• Isibindi sinokudumba size sikhule (`Hepatomegaly`).

Khawucinge ukuba umama angayoyika kangakanani ukuba into efana nale inokwenzeka kusana olusandul’ ukuzalwa . Yiyo loo nto kubaluleke kangaka ukuba uzazi ezi mpawu.

Iimpawu kubantwana abaneminyaka eyi-1 ukuya kweyi-16 ubudala

Abantwana abangaphezu kwenyanga enye ubudala nangaphantsi kweminyaka eli-16 ubudala nabo banokuba neempawu ezichazwe apha ngasentla. Ukongeza, ungazibona nezi:

• Ukudideka, imeko yokudideka kwengqondo.
• Ukuphambana kwengqondo, okufana nokubona izinto ezingekhoyo.
• Ukulahlekelwa yibhalansi kunye nokungakwazi ukuhamba kakuhle (`Ataxia`).

Iimpawu kubantu abadala

Ukuba le meko iyenzeka kumntu omdala, iimpawu ezongezelelweyo zingavela, ukongeza kwiimpawu kubantwana abancinci ezikhankanyiweyo ngaphambili:

• Isicaphucaphu.
• Intloko ebuhlungu efana ne-migraines.
• Ubunzima bokuthetha, intetho engacacanga (iDysarthria).
• Izinto ezibonakala ngathi azikho kukubona okanye ukuva izinto ezingekhoyo.
• Umbono ofipheleyo okanye ezinye iingxaki zokubona.

Kutheni le nto kukho le ngxaki ye-OTC? Zithini izizathu?

Ukungabikho kwe-OTC yingxaki yemfuza . Oku kuthetha ukuba ibangelwa lutshintsho kwi-DNA yethu. Abaphandi ukuza kuthi ga ngoku bafumanise malunga notshintsho lwe-DNA oluyi-400 olunokubangela esi sifo. Nangona kunjalo, kwezinye iimeko (malunga nama-20 ekhulwini amatyala), inokubangelwa lutshintsho lwe-DNA olungenakubonwa ngovavanyo.

Kukho iindlela ezimbini eziphambili apho olu tshintsho lwe-DNA (`DNA`) lunokwenzeka khona:

• Ilifa: Usana lunokuzuza olu tshintsho lwe-DNA kunina. Ukuba oku kuyenzeka, inkwenkwe iya kuba nesi sifo. Ukuba intombazana ingumthwali waso, iya kuchaphazeleka. Oku kuyahluka ngokwamazwe ngamazwe, kodwa kudla ngokuba phakathi kwama-36% nama-80% amatyala.
• Uhlobo olungengolwasemfuzweni (de novo): Kule meko, umntwana akazukufumana tshintsho lwe-DNA. Oku kuthetha ukuba utshintsho lwenzeke ngokungacwangciswanga ngelixa umntwana esakhula esibelekweni sikanina.

Ukungabikho kwe-OTC okuzuzwe njengelifa yimeko enxulunyaniswe ne-X . Oku kuthetha ukuba ngabasetyhini kuphela abathwala esi sifo kwaye abafumani siso sonke. Nangona kunjalo, basenokufumana iimpawu. Uphando lubonise ukuba phakathi kwe-10% kunye ne-20% yabasetyhini abathwala esi sifo baya kuba neempawu ngaxa lithile ebomini babo.

Ziziphi iingxaki ezinokwenzeka ngenxa yokungabikho kwe-OTC?

Ukunqongophala kwe-OTC kunokubangela amanqanaba aphezulu e-ammonia egazini. Eli nqanaba liphezulu le-ammonia egazini (i-Hyperammonemia) liyingozi engqondweni . Oku kunokukhokelela kwi -metabolic encephalopathy.Ukuba oku kuba nzima okanye kuhlala ixesha elide, iingxaki ezinkulu zinokuvela, ezinje:

• Ukukhubazeka kwengqondo kunye nokulibaziseka kokukhula.
• Izifo ze-neurological ezifana ne-cerebral palsy.
• Ukuwela kwi-coma kuthetha ukulahlekelwa zingqondo.
• Ngelishwa, nokufa kunokwenzeka.

Ezi ngxaki zixhaphake kakhulu, kwaye zinzima ngakumbi, kwiintsana ezisandul’ ukuzalwa ezine-OTC enqongopheleyo.

Ukungabikho kwe-OTC kunokuba yingozi kakhulu ngexesha lokukhulelwa. Nangona kunjalo, kunokwenzeka ukulawula imeko ngexesha lokukhulelwa kwaye ube nomntwana osempilweni. Ukuba unesifo se-OTC, okanye ukuba kukho umntu kusapho lwakho oye wakha wanayo le meko, kungcono ukuthetha nogqirha wakho kunye nogqirha wezifo zabesifazane (`Ob/Gyn`). Banokusebenzisana noogqirha abanyanga ukungabikho kwe-OTC ukuze balungelelanise unyango olufunayo.

Oogqirha bafumanisa njani (bafumanisa) ukungabikho kwe-OTC?

Ukungabikho kwe-OTC kufunyanwa kakhulu ngovavanyo lwelabhoratri, ingakumbi uvavanyo lwegazi kunye novavanyo lomchamo. Kwiimeko ezininzi, kunokufunyaniswa ngaphambi kokuba umntwana azalwe ngovavanyo lwe-DNA. Nangona kunjalo, nangona ukungabikho kwe-OTC kuyimeko yemfuza, olu vavanyo lusenokungakwazi ukubona zonke iinguqu ze-DNA ezinokubangelwa kuko. Oku kungenxa yokuba kukho iintlobo ngeentlobo zeenguqu ze-DNA ezinokubangelwa kuko.

Ngokuxhomekeke kwimithetho nemigaqo yelizwe ohlala kulo, kunokubakho inkqubo yokuvavanya umntwana ngamnye osandul’ ukuzalwa ukuba akanayo i-OTC. Kwiindawo ezinjalo, amathuba okubona isifo kwangethuba aphezulu.

Nangona kunjalo, kwiindawo apho iindlela zovavanyo ezisemgangathweni zingafumanekiyo, kunokuba nzima nakoogqirha abanamava ukuxilonga imeko emva kokuba umntwana ezelwe. Oku kungenxa yokuba iimpawu azicacanga kakhulu kwizigaba zokuqala kwaye zinokufana nezo naziphi na ezinye izifo. Kwiimeko ezinzima kakhulu, ubuthi be-ammonia bunokubangela umonakalo engqondweni ngaphambi kokuba oogqirha bayifumanise le meko.

Ziziphi iindlela zonyango zokungabikho kwe-OTC?

Iindaba ezimnandi zezokuba kukho iindlela ezilungileyo zonyango lokungabikho kwe-OTC. Kukho amanqaku ambalwa abalulekileyo ekufuneka uwakhumbule xa unyanga oku:

• Ukunciphisa amanqanaba e-ammonia egazini: Kwimeko engxamisekileyo, i-dialysis inokususa i-ammonia ngokukhawuleza egazini.
• Iindlela ezahlukeneyo zonyango: Kukho amayeza okususa i-nitrogen. La asebenza ngokubamba i-nitrogen, ayicubungule ngezinye iindlela, kwaye athintele ukwakheka kwe-ammonia. Imizekelo ibandakanya amayeza afana neSodium Phenylacetate kunye neSodium Benzoate.
• Utshintsho kwindlela yokutya: Ukunciphisa nokulawula ukutya okutya iiproteni kubalulekile ukuze kugcinwe amanqanaba e-ammonia egazini kwinqanaba elifanelekileyo.Ukuze wenze oku, kufuneka ubeke phambili ukufumana iikhalori ezivela kwiicarbohydrates (`iicarbs`) kunye namafutha (`amafutha`).
• Ukongezwa: Ii-amino acid ezibalulekileyo ezingenakufumaneka kwiproteni mazithathwe njengezongezo.
• Ukubeka esweni amanqanaba e-ammonia egazini: Uvavanyo lwegazi oluqhelekileyo lunokunceda ekufumaneni amanqanaba e-ammonia egazini ngaphambi kokuba abe phezulu ngendlela eyingozi.

Ukuba ukungabikho kwe-OTC kufunyenwe ngaphambi kokuba umntwana azalwe, kusenokwenzeka ukuba kuqalwe unyango lomntwana osesiswini. Ukunika umama la mayeza angengowakho ngaphambi kokuba umntwana azalwe kunokunceda ukugcina amanqanaba e-ammonia yomntwana kwinqanaba elikhuselekileyo emva kokuzalwa.

Ngaba ukunqongophala kwe-OTC kunokunyangeka ngokupheleleyo?

Ewe, ikho indlela yokunyanga ukungabikho kwe-OTC. Oko kukufakelwa kwesibindi . Kule nto, isibindi sakho esinesifo siyasuswa kwaye kufakwa isibindi esisempilweni. Eso sibindi sinokwenza i-enzyme ye-OTC. Emva kokufakelwa kwesibindi, ungatya ukutya okuqhelekileyo, okunesondlo kwaye akuyi kufuneka uthathe amayeza okunciphisa i-ammonia.

Ngelishwa, ukufakelwa kwesibindi akuxhaphakanga kakhulu kwesi sifo ngenxa yezizathu ezahlukeneyo. Kwakhona, abantu abaye bafakelwa isibindi kufuneka bathathe amayeza okunciphisa umzimba ubomi babo bonke ukuze bathintele ukwaliwa kwesi sitho sifakelweyo. Ugqirha wakho angakuxelela okungakumbi malunga nokufakelwa kwesibindi kunye nendlela okunokukuchaphazela ngayo.

Unyango lwe-gene lokusilela kwe-OTC nalo luyaphandwa okwangoku. Olu nyango lusenokuba lolunye uhlobo lwexesha elizayo endaweni yokufakelwa isibindi kwesi sifo.

Yintoni onokuyilindela xa uphila nokungabikho kwe-OTC?

Oko unokukulindela xa une-OTC deficiency kuyahluka ngokuxhomekeke kubukhali bemeko. Okukhona imeko inzima, kokukhona unokutya iiproteni ezimbalwa ngokukhuselekileyo. Abantu abaninzi abane-OTC deficiency bakhetha ukutya imifuno nangaphambi kokuba baxilongwe, kuba kulula kubo. Ugqirha wakho uya kukubonisa ukuba ingakanani iproteni onokuyitya kunye nendlela yokuyijonga.

Lilonke, ukuba nokungabikho kwe-OTC kunokuba nefuthe elikhulu ebomini bakho. Amanqanaba aphezulu e-ammonia egazini anokunyusa umngcipheko weengxaki ezifana nokukhubazeka kwengqondo. Yiyo loo nto kubaluleke kangaka ukugcina amanqanaba e-ammonia ephantsi.

Nangona kunjalo, ngokubekwa esweni, unyango, kunye nokutya okuneproteni ephantsi, ukungabikho kwe-OTC yimeko elawulekayo kakhulu. Kubalulekile ukujonga amanqanaba e-ammonia egazini lakho rhoqo ukuqinisekisa ukuba akanyuki. Ukuba amanqanaba e-ammonia egazini lakho anyukile, unyango lunokunceda ukuwanciphisa.

Kuhlala ixesha elingakanani ukungabikho kwe-OTC?

Ukungabikho kwe-OTC yimeko yokuzalwa , oko kuthetha ukuba uzalwa nayo, kwaye ihlala ubomi bakho bonke. Ukufakelwa kwesibindi kuphela konyango olufumanekayo.

Liyintoni ikamva lomntu onesifo se-OTC?

Uqikelelo lomntu onesifo se-OTC luxhomekeke kakhulu ekubeni iimpawu ziqala nini ukubonakala. Uphando luka-2020 lubonisa ukuba izigulana ezibonakala ziphakathi kweminyaka yobudala kunye nabantu abadala zinoqikelelo olungcono. Izinga lokufa kwazo liqala kwi-8% ukuya kwi-13%.

Iintsana ezisandul’ ukuzalwa zihlala zizezona meko zinzima, kwaye nezinga lokufa liphezulu. Nangona kunjalo, elo zinga lokufa liphantsi kakhulu ngoku kunakwiminyaka edlulileyo. Uphando lweminyaka engama-30 olwenziwe ukususela ngo-1971 ukuya ku-2011 lufumanise ukuba izinga lokufa kweentsana ezisandul’ ukuzalwa liyi-74%. Nangona kunjalo, uphando olulandelayo olwenziwe ukususela ngo-2001 ukuya ku-2013 lufumanise ukuba izinga lokufa liye lehla laya kwi-43%. Oku kubonisa ukuba kukho umahluko omkhulu kangakanani ngokuhambela phambili kwesayensi yezonyango.

Ngaba ikho indlela yokuthintela ukungabikho kwe-OTC?

Akukho ndlela yokuthintela ukungabikho kwe-OTC. Nangona kunjalo, ungafumana iingcebiso ngemfuza ngaphambi kokuba ube nabantwana. Nangona oku kungenakukuthintela esi sifo, kunokukunceda uqonde amathuba okuba abantwana bakho basifumane njengelifa.

Ufanele uye esibhedlele ngaliphi ixesha?

Ukuba wena okanye umntwana wakho nineempawu ze-ammonia ephezulu egazini (`ammonia`), kufuneka niye esibhedlele okanye kwigumbi likaxakeka ngokukhawuleza . Okukhona i-ammonia yegazi (`ammonia`) ihlala iphezulu ixesha elide, kokukhona umngcipheko wokonakala kwengqondo unaphakade uyanda. Ngoko ke ayisiyongcinga ilungileyo ukulibazisa.

Yeyiphi imibuzo ebalulekileyo omele uyibuze ugqirha wakho?

Xa ubona ugqirha wakho, kungcono ukubuza imibuzo efana nale:

• Ingaba ukunqongophala kwam kwi-OTC kubangelwa kukuguquka kwezakhi zofuzo okuchongiweyo okwangoku?
• Ngaba kukho na amanye amalungu osapho lwam ekufuneka ahlolwe ukungabikho kwe-OTC?
• Ingakanani iprotein endinokuyithatha ngosuku?
• Loluphi unyango endiludingayo?
• Zeziphi izongezo endifanele ndizithathe?
• Ziziphi iimpawu ezifuna unyango olungxamisekileyo?

Okokugqibela, izinto ezimbalwa ekufuneka uzikhumbule

Nokuba esi sifo sichaphazela wena okanye umntwana wakho, kuyinto eqhelekileyo ukuba neemvakalelo ezahlukeneyo xa ufunda ukuba esi sisifo semfuza esihlala sisenzeka ubomi bakho bonke. Usenokuziva uloyiko, uxhalabile, nomsindo. Zonke ezi mvakalelo ziyaqondakala.

Kodwa kufuneka ukhumbule, ukungabikho kwe-OTC akuyongxaki yakho , kwaye kudla ngokubangelwa zizinto ezingaphaya kwamandla akho.

Nangona ukunqongophala kwe-OTC kuyimeko enzima, inkqubela phambili kwisayensi yezonyango yenze ukuba inyangeke ngakumbi kunokuba yayinjalo kwiminyaka embalwa eyadlulayo. Ngokujongwa rhoqo kunye nonyango, le meko inokulawulwa kakhulu. Kukwakho nobungqina obukhulayo bokuba ukufakelwa isibindi kunokunyanga esi sifo. Ukuba unemibuzo okanye ufuna uncedo endleleni, ungalibali ukuthembela kwiqela lakho lezonyango. Bahlala bekhona ukukukhokela nokukuxhasa.

Ukungabikho kwe - OTC, i-ammonia, isibindi, umjikelo we-urea, izifo zemfuza, iproteni, izifo zabantwana