Intlungu ebuhlungu yesisu kunye nokulahlekelwa zingqondo ngaphandle kwesizathu... Masifunde ngesi sifo singaqhelekanga? (I-Acute Hepatic Porphyria)

Khawuthelekelele, ngaphandle kwesizathu esicacileyo, ngequbuliso unesisu esibuhlungu esinganyamezelekiyo. Kunye noko, amalungu akho ayaphela amandla, uzive ngathi uza kutyhafa, kwaye uzive unesicaphucaphu. Kwanasemva kokubona oogqirha abaninzi nokwenza iimvavanyo ezininzi, unobangela wesifo awufumaneki. Ngaba wena okanye umntu omaziyo ukhe waba namava anjalo? Mhlawumbi unobangela sisifo esingaqhelekanga kakhulu semfuza abantu abaninzi kwilizwe lethu abangazange beve ngaso. Namhlanje siza kuthetha ngesinye sezi meko, i-Acute Hepatic Porphyria , okanye i-AHP.

Ngamafutshane, yintoni i-Acute Hepatic Porphyria (AHP)?

I-AHP sisifo esingaqhelekanga semfuza esichaphazela inkqubo yethu yemithambo-luvo kwaye ngamanye amaxesha ulusu lwethu. Sinqabile kangangokuba sichaphazela abantu abamalunga naba-5 kwi-100,000. Sinokubangela iimpawu ezibuhlungu ngequbuliso, ezinzima nezibuhlungu. Ngamanye amaxesha, ezi zinokuba yingozi ebomini.

Ukuze siqonde oku, masithethe kancinci ngegazi elisemizimbeni yethu. Iiseli zethu ezibomvu zegazi ziqulathe iproteni ebizwa ngokuba yi " Hemoglobin ". Umsebenzi wayo ophambili kukuthatha ioksijini engena emiphungeni xa siphefumla size siyithumele kuwo onke amanye amalungu omzimba. Kufana 'nenkonzo yokuhambisa' ethwala ioksijini.

Kukho enye into ebalulekileyo ekwenzeni le protein ebizwa ngokuba yi-``Hemoglobin'', kwaye siyibiza ngokuba yi -``Heme'' .

Okwenzekayo emzimbeni womntu onesifo se-AHP kukuncipha okanye ukulahleka kwe-enzyme efunekayo kwinqanaba elithile kwinkqubo yokuvelisa le nxalenye ebizwa ngokuba yi-``Heme''. Kufana nokuba xa upheka isitya, ukuba kukho isithako esinye esingekhoyo, isitya asinakulungiswa ngokufanelekileyo.

Ukunqongophala kwale enzyme kwenzeka kakhulu esibindini sethu. Sikwabiza isibindi ngokuba yi-`(Hepatic)`. Yiyo loo nto esi sifo sabizwa ngokuba yi-`Acute Hepatic Porphyria` .

Ngoku, kwenzeka ntoni xa singakwazi ukwenza i-`(Heme)`? Izinto ezisetyenzisiweyo kuyo, ezizezi `(Porphobilinogen – PBG)` kunye ne `(Aminolevulinic acid – ALA)`, ziqala ukuqokelelana esibindini. Ezi tyhefu ziqokelelana egazini kwaye zihamba emzimbeni wonke, ngakumbi ziyonakalisa inkqubo yethu yemithambo-luvo. Kungenxa yaloo monakalo wemithambo-luvo apho kuvela khona iimpawu ezifana nentlungu enzima , ukungaziva , kunye nokucaphuka .

Ziziphi iintlobo eziphambili zesifo se-AHP?

Kukho iintlobo ezine eziphambili ze-AHP. Uhlobo ngalunye lubangelwa kukungabikho kwe-enzyme eyahlukileyo kwinkqubo yokwenza i-``(Heme)``. Kodwa zonke ezine zichaphazela kakhulu isibindi kunye nenkqubo yemithambo-luvo.

I-Acute Intermittent Porphyria (AIP)

Olu lolona hlobo luchaphazela i-80% yezigulane ze-AHP, oko kukuthi, uninzi lwazo. Kule meko, kukho ukunqongophala kwe-enzyme `(Hydroxymethylbilane synthase – HMBS)`. Isizathu soku kukutshintsha kwe-`(HMBS)` gene. Kwizonyango, oku sikubiza ngokuba yi-`(mutation)` gene . Oku ngamanye amaxesha kunokuthi kuzuzwe kubazali kubantwana. Okanye ngamanye amaxesha kunokwenzeka ngokungacwangciswanga kumntu ongenalo naliphi na imbali yosapho.

Zinjani iimpawu ze-AHP?

Ayingabo bonke abantu abane-AHP abaneempawu ezifanayo. Abanye abantu basenokungabi nazo iimpawu konke konke ebomini babo. Kodwa abanye abantu basenokuba neentlungu eziqatha neziphindaphindayo. Kubalulekile ukuzazi ezi mpawu.

Ziziphi izinto ezibangela ukuba esi sifo sibe sibi kakhulu?

Umntu one-AHP unokuphila ubomi obuqhelekileyo. Nangona kunjalo, kukho izinto ezithile ezinokubangela esi sifo. Kubaluleke kakhulu ukuzazi ezi zinto.

• Amayeza athile: Ingakumbi amayeza athile afana nee-antibiotics eziqulethe `(Barbiturates)` kunye `(Sulfa)`. Ukuba une-AHP, kubalulekile ukuthetha nogqirha wakho ngaphambi kokuba usebenzise naliphi na iyeza.
• Ukusela utywala: Utywala yeyona nto ibangela ukuba esi sifo sibe sibi kakhulu.
• Ukuzila ukutya okungqongqo okanye ukuzila ukutya: Ukutya ukutya okuneekhalori ezincinci kunye neecarbohydrate (isitatshi) kunokusenza sibe sibi ngakumbi esi sifo.
• Utshintsho lweehomoni: Utshintsho kumanqanaba eehomoni, ingakumbi kubasetyhini, oluhambelana nomjikelo wabo wokuya exesheni.
• Uxinzelelo kunye nosulelo: Naluphi na uhlobo loxinzelelo emzimbeni, nokuba yimeko eyosulelayo efana nomkhuhlane okanye umkhuhlane, inokubangela ukuba isifo sibe mandundu.

Ufanele uye nini kugqirha?

Ukuba unale mpawu, nceda ungazijongi njengezinto eziqhelekileyo. Kubaluleke kakhulu ukufuna ingcebiso kagqirha, ingakumbi kwezi meko zilandelayo:

• Ukuba unentlungu yesisu engachazekiyo, ephindaphindayo.
• Ukuba iimpawu ze-neurological ezifana nokungaziva mnandi kunye nobuthathaka ziyenzeka ngaxeshanye.
• Ukuba uyazi ukuba kukho umntu kusapho lwakho onesifo `(Porphyria)`.
• Ukuba uqaphela ukuba umchamo wakho ujika ube bomvu/mdaka omnyama.

Ukuba ufumana iimpawu ezinzima, ezifana nentlungu enganyamezelekiyo, ubunzima bokuphefumla, ukudideka kwengqondo, okanye ukulahlekelwa ngamalungu omzimba, yiya kwiYunithi yoNyango oluNgxamisekileyo (ETU) yesibhedlele ngoko nangoko.

Ngaba kukho unyango lwe-AHP?

Ekubeni esi sisifo esibangelwa lufuzo, akukho nyango okwangoku. Nangona kunjalo, kukho unyango olusebenzayo kakhulu lokulawula nokuthintela ukwanda kwesi sifo.

Kwiimeko ezinzima kakhulu, kufuneka umntu alaliswe esibhedlele aze afumane unyango.

• Eyona nto iphambili kukuchonga imbangela ebangele ukuba esi sifo siqhambuke size sipheliswe.
• Iipilisi zokuphelisa iintlungu ezinamandla zinikwa ukulawula iintlungu eziqatha.
• Amayeza anikwa ukulawula isicaphucaphu nokuhlanza.
• Ngokunika umzimba i-glucose (iswekile), oko kukuthi, i-glucose ene-saline ngomthambo, ukuveliswa kwetyhefu esibindini kunokuncipha.
• Njengonyango oluthile , kwenziwa inaliti ze-`(Heme)`. Oku kwenziwa ngokunika i-`(Heme)` ngaphandle, ukuthumela umyalezo kwisibindi othi, "Unayo i-`(Heme)`, awudingi ukwenza ezinye," kunye nokuthintela ukuveliswa kweetyhefu.
• Ngaphandle koku, ngoku kukho amayeza anamhlanje aveliswa ngeteknoloji yemfuza ukuthintela ukuba esi sifo singaphindi sibuye kwabo baneengxaki eziphindaphindayo.

Ugqirha oza kukuhlola uza kugqiba unyango olufanelekileyo kuwe.

I-AHP, i-Acute Hepatic Porphyria, i-Porphyria, iintlungu zesisu, izifo ze-neurological, izifo ze-genetic, i-Heme, i-Hemoglobin, i-Porphyrin, izifo ezingaqhelekanga