Cabanga nje, ngaphandle kwesizathu esicacile, ngokuzumayo uzwa ubuhlungu besisu obungabekezeleleki. Kanye nalokho, izitho zakho zomzimba ziyaba ndikindiki, uzizwe sengathi uzoquleka, futhi uzizwa unesicanucanu. Ngisho nangemva kokubona odokotela abaningana nokwenza izivivinyo eziningi, imbangela eqondile yalesi sifo ayitholakali. Ingabe wena noma othile omaziyo ube nalesi simo? Mhlawumbe imbangela yisimo esingavamile kakhulu sofuzo abantu abaningi ezweni lethu abangakaze bezwe ngaso. Namuhla sizokhuluma ngesinye salezi zimo, i-Acute Hepatic Porphyria , noma i-AHP.
Kalula nje, iyini i-Acute Hepatic Porphyria (AHP)?
I-AHP iyisifo esingavamile sofuzo esithinta isimiso sethu sezinzwa futhi ngezinye izikhathi isikhumba sethu. Singavamile kangangokuthi sithinta abantu abangaba ngu-5 kwabayi-100,000. Singabangela izimpawu eziphuthumayo, ezinzima nezibuhlungu. Ngezinye izikhathi, lezi zingasongela ukuphila.
Ukuze siqonde lokhu, ake sixoxe kancane ngegazi elisemizimbeni yethu. Amaseli ethu abomvu egazi aqukethe iphrotheni ebizwa ngokuthi "i- Hemoglobin ". Umsebenzi wayo oyinhloko ukuqoqa umoya-mpilo oza emaphashini lapho siphefumula bese uwuletha kuzo zonke ezinye izitho nezicubu zomzimba. Kufana 'nenkonzo yokulethwa' ethwala umoya-mpilo.
Kukhona enye ingxenye ebalulekile ekwenzeni le phrotheni ebizwa ngokuthi ``Hemoglobin'', futhi siyibiza ngokuthi ``Heme'' .
Okwenzeka emzimbeni womuntu onesifo se-AHP ukwehla noma ukulahleka kwe-enzyme edingekayo esigabeni esithile senqubo yokukhiqiza lesi sakhi esibizwa ngokuthi "i-Heme". Kufana nalapho upheka isidlo, uma isithako esisodwa singekho, isidlo asikwazi ukulungiswa kahle.
Ukuntuleka kwale enzyme kwenzeka kakhulu esibindini sethu. Siphinde sibize isibindi ngokuthi `(Hepatic)`. Yingakho lesi sifo sibizwa ngokuthi `Acute Hepatic Porphyria` .
Manje, kwenzekani uma singakwazi ukwenza i-`(Heme)`? Izinto zokusetshenziswa ezasetshenziswa kuyo, okungukuthi `(Porphobilinogen – PBG)` kanye ne-`(Aminolevulinic acid – ALA)`, ziqala ukuqongelela esibindini. Lawa ma-toxin aqongelela egazini futhi ahambe emzimbeni wonke, ikakhulukazi elimaza isimiso sethu sezinzwa. Kungenxa yalowo monakalo wezinzwa lapho kuvela khona izimpawu ezifana nobuhlungu obukhulu , ukungazweli , kanye nokucasuka .
Yiziphi izinhlobo eziyinhloko zesifo se-AHP?
Kunezinhlobo ezine eziyinhloko ze-AHP. Uhlobo ngalunye lubangelwa ukuntuleka kwe-enzyme ehlukile enkambisweni yokwenza i-``(Heme)``. Kodwa zonke ezine zithinta kakhulu isibindi kanye nesistimu yezinzwa.
I-Acute Intermittent Porphyria (AIP)
Lolu uhlobo oluthinta ama- 80% eziguli ze-AHP, okungukuthi, iningi. Kulokhu, kukhona ukuntuleka kwe-enzyme `(Hydroxymethylbilane synthase – HMBS)`. Isizathu salokhu ushintsho ku-gene `(HMBS)`. Kwezokwelapha, lokhu sikubiza ngokuthi i-gene `(mutation)` . Lokhu ngezinye izikhathi kungazuzwa kubazali kuya ezinganeni. Noma ngezinye izikhathi kungenzeka ngokungahleliwe kumuntu ongenawo umlando womndeni.
Zinjani izimpawu ze-AHP?
Akuwona wonke umuntu one-AHP onezimpawu ezifanayo. Abanye abantu bangase bangabi nazo nhlobo izimpawu kukho konke ukuphila kwabo. Kodwa abanye abantu bangase babe nokuhlaselwa okunzima njalo. Kubalulekile ukuqaphela lezi zimpawu.
| Uhlelo lomzimba luthintekile | Izimpawu ezivame ukubonakala |
|---|---|
| Isisu (esihlobene nesisu) | Ubuhlungu besisu obukhulu, obungachazeki (lolu uphawu oluyinhloko ), isicanucanu, ukuhlanza, nokuqunjelwa. |
| Uhlelo lwezinzwa | Izimo ezinjengokungazweli, ubuthakathaka, ubuhlungu bemisipha kanye nobuthakathaka, kanye nokukhubazeka okuvamile. |
| Isimo sengqondo | Ukungahlaliseki, ukukhathazeka, ukudideka, imibono engekho. |
| Inhliziyo nomfutho wegazi | Ukushaya kwenhliziyo okusheshayo, umfutho wegazi ophakeme. |
| Ezinye izici | Umchamo uphenduka ube bomvu noma ube nsundu (ikakhulukazi uma isifo sibi kakhulu). |
Ngenxa yokuthi lesi sifo asivamile, lezi zimpawu zingase ziphazanyiswe nezezinye izifo ezivamile, okungaholela ekubambezelekeni kokutholakala kwaso.
Yiziphi izimbangela ezibangela ukuba lesi sifo sibe sibi kakhulu?
Umuntu one-AHP angaphila impilo evamile. Kodwa-ke, kunezinto ezithile ezingadala lesi sifo. Kubaluleke kakhulu ukuzazi lezi zinto.
- Imithi ethile: Ikakhulukazi imithi ethile efana nama-antibiotic aqukethe `(Barbiturates)` kanye `(Sulfa)`. Uma une-AHP, kubalulekile ukukhuluma nodokotela wakho ngaphambi kokuthatha noma yimuphi umuthi.
- Ukusetshenziswa kotshwala: Utshwala yimbangela eyinhloko yokubhebhetheka kwalesi sifo.
- Ukunciphisa ukudla noma ukuzila ukudla okuqinile: Ukudla ukudla okunama-calories nama-carbohydrate aphansi (isitashi) kungasenza lesi sifo sibe sibi kakhulu.
- Izinguquko zama-hormone: Izinguquko emazingeni ama-hormone, ikakhulukazi kwabesifazane, ezihambisana nomjikelezo wabo wokuya esikhathini.
- Ukucindezeleka Nezifo: Noma yiluphi uhlobo lokucindezeleka emzimbeni, ngisho nesimo esithelelanayo njengomkhuhlane noma umkhuhlane, kungenza lesi sifo sibe sibi kakhulu.
Kufanele ubonane nini nodokotela?
Uma unalezi zimpawu, sicela ungazinaki njengezivamile. Kubaluleke kakhulu ukufuna iseluleko sezokwelapha, ikakhulukazi ezimweni ezilandelayo:
- Uma unezinhlungu zesisu ezingachazeki, eziphindaphindayo.
- Uma izimpawu zemizwa ezifana nokungazweli kanye nobuthakathaka zivela ngesikhathi esisodwa.
- Uma wazi ukuthi othile emndenini wakho unesifo `(Porphyria)`.
- Uma ubona ukuthi umchamo wakho ushintsha umbala ube bomvu/nsundu.
Uma uzwa izimpawu ezinzima, njengobuhlungu obungabekezeleleki, ubunzima bokuphefumula, ukudideka kwengqondo, noma ukulahlekelwa yizitho zomzimba, hamba uye e-Emergency Treatment Unit (ETU) yesibhedlela ngokushesha.
Ingabe ikhona indlela yokwelapha i-AHP?
Njengoba lesi kuyisifo esibangelwa izakhi zofuzo, asikho ikhambi okwamanje. Kodwa-ke, kunezindlela zokwelapha ezisebenza kahle kakhulu zokulawula nokuvimbela ukwanda kwalesi sifo.
Ezimweni ezimbi kakhulu, ukulaliswa esibhedlela kanye nokwelashwa kuyadingeka.
- Into eyinhloko ukuthola imbangela ebangele ukuba lesi sifo siqhume bese simiswa.
- Amaphilisi okudambisa izinhlungu anamandla anikezwa ukulawula ubuhlungu obukhulu.
- Imithi inikezwa ukulawula isicanucanu nokuhlanza.
- Ngokunikeza umzimba i-glucose (ushukela), okungukuthi, i-glucose enosawoti ngemithambo yegazi, ukukhiqizwa kobuthi esibindini kungancishiswa.
- Njengokwelashwa okukhethekile , imijovo ye-`(Heme)` yenziwa nge-`(Hemin infusions)`. Lokhu kwenziwa ngokunikeza i-`(Heme)` ngaphandle, ukuthumela isignali esibindini ethi, "Unayo i-`(Heme)`, awudingi ukwenza okunye," kanye nokuvimba ukukhiqizwa kobuthi.
- Ngaphandle kwalokhu, manje sekukhona imithi yesimanje ekhiqizwa ngobuchwepheshe bezakhi zofuzo ukuvimbela lesi sifo ukuthi singaphinde sivele kulabo abanezinkinga ezivame ukwenzeka.
Udokotela ozokuxilonga uzonquma ukwelashwa okufanele kakhulu kuwe.
Umlayezo Wokuya Nawe Ekhaya
- I-Acute Hepatic Porphyria (AHP) yisifo esingavamile esibangelwa izakhi zofuzo esingabangela izimpawu ezinzima. Kodwa-ke, iningi labantu abanalesi sifo liphila impilo evamile.
- Uphawu oluyinhloko ukuvela kwezimpawu zemizwa (ukuba ndikindiki, ubuthakathaka) kanye nobuhlungu obukhulu besisu obungachazeki.
- Kubaluleke kakhulu ukugwema izinto ezingabangela lesi sifo sibe sibi kakhulu, njengemithi ethile, utshwala, nokuzila ukudla.
- Uma unezimpawu ezisolisayo, ikakhulukazi uma othile emndenini wakho enalesi sifo, qiniseka ukuthi ubona udokotela.
- Manje kunezindlela zokwelapha eziphumelela kakhulu zokulawula lesi sifo nokuphatha ukuqubuka kwaso. Ngakho-ke asikho isidingo sokwesaba.
I-AHP, i-Acute Hepatic Porphyria, i-Porphyria, ubuhlungu besisu, izifo ze-neurological, izifo zofuzo, i-Heme, i-Hemoglobin, i-Porphyrin, izifo ezingavamile
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho