IHemchromatosis yaqala yachazwa njengesifo esehlukile ngo-1889. Kodwa-ke, kwakwazi ukuthola ngokunembile izimbangela zesifo kuphela ngokuthuthukiswa kwezakhi zofuzo zezokwelapha.
Ukuhlukaniswa okunjalo sekwephuzile kwaqhakanjiswa uhlobo lwesifo nokusatshalaliswa kwalo okulinganiselwe.
Ngakho-ke, ngokusho kwedatha yanamuhla, ama-0.33% ezakhamuzi zomhlaba asengozini yokuqhamuka ne-hemochromatosis. Yini ebangela lesi sifo futhi yiziphi izimpawu zaso?
IHemchromatosis - kuyini?
Lesi sifo sinefa futhi sinezimpawu zokuphindaphindwa kwezimpawu kanye nengozi enkulu yezinkinga ezinkulu kanye ne-pathologies ehlobene nayo.
Ucwaningo luye lwabonisa ukuthi i-hemochromatosis imvamisa ibangelwa ukuguqulwa kwezakhi zofuzo kuhlobo lwe-HFE.
Ngenxa yokuhluleka kofuzo, indlela yokuthathwa kwensimbi ku-duodenum iyaphazamiseka.. Lokhu kuholela ekutheni umzimba uthola umyalezo wamanga ngokuntuleka kwensimbi emzimbeni bese uqala ukusebenza futhi ngobuningi obedlulele bahlanganisa iprotheni ekhethekile ebopha i-iron.
Lokhu kuholela ekumisweni ngokweqile kwe-hemosiderin (i-glandular pigment) ezithweni zangaphakathi. Kanye nokwanda kokuhlanganiswa kwamaprotheni, kusebenze ukwenziwa kwamathumbu esiswini, okuholela ekufakweni kwe-iron okwedlulele kokudla esiswini.
Ngakho-ke ngisho nokudla okujwayelekile, inani lensimbi eliqukethwe emzimbeni liphakeme izikhathi eziningi kunokujwayelekile. Lokhu kuholela ekubhujisweni kwezicubu zezitho zangaphakathi, izinkinga ngohlelo lwe-endocrine, kanye nokugomeka.
Ukuhlukaniswa ngezinhlobo, amafomu nezigaba
Emsebenzini wezokwelapha, izinhlobo zokuqala neziyisithupha zezifo ziyahlukaniswa. Kulesi simo, eyinhloko, ebizwa nangokuthi ifa, ingumphumela wokuvela kofuzo. I-hemochromatosis yesibili ingumphumela wokuthuthuka kokuphambuka emsebenzini wezinhlelo ze-enzyme ezibandakanyeka ku-glandular metabolism.
Izinhlobo ezine zesifo sofuzo (ufuzo) ziyaziwa:
- zakudala
- ulutsha;
- izinhlobo ze-HFE-ezihlangene zofuzo;
- Autosomal great.
Uhlobo lokuqala luhlotshaniswa nokuguqulwa kwe-classical mutation kwesifunda se-chromosome sesithupha. Lolu hlobo lutholakala ngobuningi bamacala - angaphezu kwamaphesenti angama-95 eziguli ezihlushwa i-hemochromatosis ye-classical.
Uhlobo lwentsha lwesifo lwenzeka ngenxa yokuvela kolunye uhlobo, i-HAMP. Ngaphansi kwethonya lolu shintsho, indlela eqalwa ngayo i-hepcidin, i-enzyme ebhekele ukufakwa kwensimbi ezithweni zezitho, ikhuphuka kakhulu. Imvamisa lesi sifo sizibonakalisa sineminyaka eyishumi kuya kwengamashumi amathathu.
Uhlobo lwe-HFE-engahlanganisiwe luyakhula lapho uhlobo lwe-HJV luhluleka. Le pathology ifaka indlela ye-hyperactivation ye-transerrin-2 receptors. Ngenxa yalokhu, ukukhiqizwa kwe-hepcidin kuyaqina. Umehluko nohlobo lwesifo sokuthi okokuqala, uhlobo oluthile lwehluleka, olubhekele ngqo ukukhiqizwa kwe-enzyme ebopha insimbi.
Ngenkathi esimweni sesibili, umzimba udala isimo sokweqile kwensimbi ekudleni, okuholela ekukhiqizweni kwe-enzyme.
Uhlobo lwesine lwe-hemochromatosis yefa luhlotshaniswa nokungasebenzi kahle kohlobo lwe-SLC40A1.
Lesi sifo siziveza ebudaleni futhi sihambisana nokwakheka okungafanele kwamaprotheni e-ferroportin, obhekene nokuhambisa izinhlanganisela zensimbi kumaseli.
Izimbangela zokuguqukela kwemishini nezinto ezibangela ingozi
Ukuguqulwa kwezakhi zofuzo kuhlobo lwofuzo lwesifo kuwumphumela wokuphakanyiswa kusengaphambili komuntu.
Ucwaningo lukhombisa ukuthi iningi leziguli liyizakhamizi ezimhlophe zaseNyakatho Melika naseYurophu, futhi inani elikhulu kakhulu labantu abahlushwa i-hemochromatosis labonwa kwabokufika abavela e-Ireland.
Ngaphezu kwalokho, ukwanda kwezinhlobo ezahlukahlukene zokuguquka kwezimpawu kuwuphawu ezingxenyeni ezihlukene zomhlaba. Abesilisa bathinteka kulesi sifo kaningi kaningi kunabesifazane. Kamuva, izimpawu zivame ukukhula emva kokushintshwa kwama-hormone emzimbeni okubangelwa ukuya esikhathini.
Ezigulini ezibhalisiwe, abesifazane bangaphansi kwezikhathi ezingama-7-10 kunabesilisa. Izizathu zoshintsho azikacaci. Ukuphela kwalesi sifo okufakazelwa ngokungenakuphikwa, futhi ukuxhumana phakathi kokuba khona kwe-hemochromatosis ne-fibrosis yesibindi nakho kulandelwa.
Ngenkathi ukukhula kwezicubu ezithintekayo kungeke kuchazwe ngokuqondile ngokuqongelela kwensimbi emzimbeni, kuze kube yizipesheli ezingama-70% eziguli ezine-hemochromatosis ezazinesibindi i-fibrosis.
Ngaphezu kwalokho, isandiso sofuzo asisho ukuthi umuntu angaqhamuka nesifo.
Ngaphezu kwalokho, kunohlobo lwesibili lwe-hemochromatosis, olubonwa kubantu abanezakhi zofuzo ezijwayelekile ekuqaleni. Izici zobungozi zibandakanya ne-pathologies ethile. Ngakho-ke, kudluliswa i-steatohepatitis (ukubekwa ngaphandle kwezidakwa kwezicubu ze-adipose), ukuthuthukiswa kwe-hepatitis engamahlalakhona ye-etiologies ehlukahlukene, kanye nokuqothuka kwepancreas kufaka isandla ekubonakalweni kwesifo.
Izimpawu ze-hemochromatosis kwabesifazane nakwabesilisa
Esikhathini esedlule, ukuvela kuphela kwezimpawu ezithile ezibonakalayo ezinzima kwenze ukuthi sikwazi ukubona lesi sifo.
Isiguli esinokuqunjelwa ngokweqile kwensimbi sizwa ukukhathala okungapheli, ubuthakathaka.
Lolu phawu luphawuleka ngamaphesenti angama-75 eziguli ezine-hematochromatosis. Ukufakwa umbala kwesikhumba kuyathuthukiswa, futhi le nqubo ayihambisani nokukhiqizwa kwe-melanin. Isikhumba siba mnyama ngenxa yokuqongelela izinhlanganisela zensimbi lapho. Umnyama ubonwa ngeziguli ezingaphezu kwama-70%.
Umphumela omubi wensimbi eqoqiwe kumaseli omzimba uholela ekuwohlokeni kokungazethezeki komzimba. Ngakho-ke, ngokuqhubeka kwesifo, ukutholakala kwesiguli kokutheleleka kuyanda - kusuka kokubi kakhulu kuya ekuvinjelweni futhi kungenangozi ezimweni ezijwayelekile.
Cishe isigamu seziguli sihlushwa ama-pathologies ahlanganisiwe avezwa lapho kuvela khona izinhlungu.
Kukhona nokuwohloka kokuhamba kwabo. Lesi sibonakaliso senzeka ngoba i-iron ehlanganisiwe ihlanganisa ukufaka i-calcium emalungeni.
I-Arrhythmias kanye nokukhula kokuhluleka kwenhliziyo nakho kungenzeka. Umphumela ongemuhle kuma-pancreas uvame ukuholela kushukela. I-iron ethe xaxa ibangela ukungasebenzi kwe-sweat gland. Ezimweni ezingavamile, amakhanda abhekekile ayabhekwa.
Ukuthuthuka kwalesi sifo kuholela ekungabi namandla kwabesilisa. Ukusebenza kocansi okwehlisiwe kubonisa izimpawu zobuthi bomzimba ngemikhiqizo yensimbi eyinsimbi. Kwabesifazane, ukopha kakhulu ngesikhathi somthethonqubo kungenzeka.
Isibonakaliso esibalulekile ukwanda kwesibindi, kanye nobuhlungu besisu obukhulu, ekubonakaleni kwayo okungenakwenzeka ukukhomba okuhleliwe.
Ukuba khona kwezimpawu eziningana kusikisela isidingo sokuthola ukuthi ubani unalesi sifo.
Isibonakaliso salesi sifo sinokuqukethwe okuphezulu kwe-hemoglobin egazini, nokuqukethwe okuphansi kwangaleso sikhathi kumaseli abomvu egazi. Izinkomba zokudluliselwa kwe-transferin ngensimbi engaphansi kuka-50% kubhekwa njengophawu lwelabhoratri ye-hemochromatosis.
Ukwanda okukhulu kwesibindi ngobukhulu obuphakeme bezicubu zawo nakho kuwuphawu lwalesi sifo. Ngaphezu kwalokho, nge-hemochromatosis, ushintsho kumbala wezicubu zesibindi luyabonakala.
Kubonakala kanjani enganeni?
I-hemochromatosis yakudala inezici ezimbalwa - ukusuka kuguquko olwabangela ukuthi luye ezifundeni ze-chromosome ezihambisanayo kuya esithombeni nasokubonakalisweni kwesimo somtholampilo.
Okokuqala, izimpawu zesifo zisencane zi-polymorphic.
Izingane zibonakaliswa ukuthuthukiswa kwezimpawu ezibonisa ukufakwa kwe-portal hypertension. Kuthuthukisa ukwephulwa kokutholwa kokudla, ukwanda kanyekanye komgogodla nesibindi.
Ngokuthuthuka kwe-pathology, kusinda futhi kumelane nemiphumela yokwelashwa i-ascites kuqala - i-dropsy eyakha esifundeni sesisu. Ukuthuthukiswa kwemithambo ye-varicose ye-esophagus kuyisici.
Yiziphi izivivinyo nezindlela zokuxilonga ezisiza ekuboneni isifo?
Ukuthola lesi sifo, kusetshenziswa izindlela ezahlukahlukene zokuhlonza ilabhorethri.
Ekuqaleni, isampula yegazi yenzelwa ukutadisha izinga le-hemoglobin kumaseli abomvu egazi kanye neplasma.
Ukuhlolwa kwe-iron metabolism nakho kwenziwa.
Ukuhlolwa kokuxakayo kusiza ukuqinisekisa ukutholwa. Ukuze wenze lokhu, kufakwa umjovo wesidakamizwa se-glandular, kuthi ngemuva kwamahora amahlanu kuthathwe isampula somchamo. Ngaphezu kwalokho, i-CT ne-MRI yezitho zangaphakathi yenziwa ukunquma ushintsho lwazo lwe-pathological - ukwanda ngosayizi, i-pigmentation, kanye noshintsho ekwakhekeni kwezicubu.
Ukuskena ngofuzo kwamangqamuzana kukuvumela ukuthi unqume ukuba khona kwengxenye eyonakalisiwe ye-chromosome. Lolu cwaningo, olwenziwe phakathi kwamalungu omndeni wesiguli, nalo lusivumela ukuthi sihlole ukuthi kungenzeka yini ukuthi lesi sifo sivele khona ngaphambi kokuqala kokubonakaliswa kwalo kliniki okuphazamisa isiguli.
Izimiso zokwelashwa
Izindlela eziphambili zokwelashwa ukujwayela izinkomba kokuqukethwe kwensimbi emzimbeni nokuvinjezelwa kokulimala kwezitho zangaphakathi nezinhlelo. Ngeshwa, umuthi wanamuhla awazi ukuthi ungawenza kanjani amathuluzi ezakhi zofuzo.
Ukopha igazi
Indlela ejwayelekile yokwelashwa ukumpompela igazi. Ngokwelashwa kokuqala, i-500 mg yegazi isuswa masonto onke. Ngemuva kokujwayelekile kokuqukethwe kwensimbi, bashintshela ekwelashweni kwesondlo, lapho amasampula egazi evela njalo ezinyangeni ezintathu.
Ukuphathwa okuphathelene nezidakamizwa ezibopha insimbi kuyenziwa. Ngakho-ke, chelators ikuvumela ukuthi ususe izinto eziningi ngokweqile ngomchamo noma indle. Kodwa-ke, isikhathi esifushane sokusebenza senza ukujova okuvamile kwezidakamizwa ngosizo lwamaphampu akhethekile kudingekile.
Izinkinga ezingaba khona kanye nokuqagela
Ngokuxilongwa kusenesikhathi, lesi sifo singalawulwa ngempumelelo.Isikhathi nezinga lempilo yeziguli ezithola ukunakekelwa okujwayelekile empeleni akufani nalezo zabantu abaphilile.
Ngaphezu kwalokho, ukwelashwa okungazelelwe kuholela ezinkingeni ezinkulu. Lokhu kufaka phakathi ukuthuthukiswa kwe-cirrhosis kanye nokwehluleka kwesibindi, isifo sikashukela, ukulimala kwemithambo kuze kufike ukopha.
Kukhona ingozi enkulu yokuba nomdlavuza we-cardiomyopathy nomdlavuza wesibindi, ukutheleleka okuphathelene nakho kuyaqapheleka.
Amavidiyo ahlobene
Mayelana nokuthi kuyini i-hemochromatosis nokuthi ungayelapha kanjani, ku-telecast ethi "Phila kahle!" no-Elena Malysheva:
