Hemochromatosis
Uhlolojikelele
I-Hemochromatosis (he-moe-kroe-muh-TOE-sis) iyisimo esenza umzimba uthathe insimbi eningi kakhulu ekudleni. Insimbi engeziwe igcinwa ezihlotsheni, ikakhulukazi e-liver, inhliziyo ne-pancreas. Insimbi eningi kakhulu ingabangela izimo ezisongela impilo, njengoba kungenzeka ukuba kube khona isifo se-liver, izinkinga zenhliziyo kanye nesifo sikashukela. Kunezinhlobo ezimbalwa ze-hemochromatosis, kodwa uhlobo oluvamile lubangelwa ukuguqulwa kwe-gene oluthathwe emindenini. Bambalwa abantu abana-genes abake bathuthukise izinkinga ezinzima. Izimpawu zivame ukuvela ekuphileni kwesikhathi esiphakathi. Ukwelashwa kuhlanganisa ukususa igazi emzimbeni njalo. Ngenxa yokuthi iningi lensimbi yomzimba liku-red blood cells, leli thinta liphansi amaleveli ensimbi.
Izimpawu
Abanye abantu abane-hemochromatosis abanawo neze izimpawu. Izimpawu zokuqala zivame ukufana nalezo zezinye izimo ezivamile. Izimpawu zingafaka: Ubuhlungu bezingxenye zomzimba. Ubuhlungu besisu. Ukukhathala. Ubuthakathaka. Isifo sikashukela. Ukulahlekelwa yi-sex drive. Ukwehluleka kokuthomba. Ukwehluleka kwenhliziyo. Ukwehluleka kwesibindi. Umbala wesikhumba obumnyama noma oluhlaza. Ukukhumbula okungathandeki. Uhlobo oluvamile lwe-hemochromatosis lubakhona ekuzalweni. Kodwa abantu abaningi ababonisi izimpawu kuze kube kamuva ekuphileni — ngokuvamile ngemuva kweminyaka engama-40 kubantu besilisa nangemva kweminyaka engama-60 kwabesifazane. Abesifazane banesilinganiso esiphezulu sokuthola izimpawu ngemuva kokuphela kwesikhathi sabo, lapho bengasaphulukani nensimbi ngesikhathi sokuya esikhathini nokubeletha. Bheka ochwepheshe bezempilo uma uhlangabezana nanoma iyiphi yezimpawu ze-hemochromatosis. Uma unelungu lomndeni oluseduze eline-hemochromatosis, buza iqembu lakho lezempilo mayelana nokuhlolwa kwe-genetic. Ukuhlolwa kwe-genetic kungahlola ukuthi unayo yini i-gene eyenyusa ingozi yakho ye-hemochromatosis.
Isikhathi sokubona udokotela
Bona uhlinzeki wakho wezempilo uma uhlangabezana nanoma yiziphi izimpawu ze-hemochromatosis. Uma unelungu lomndeni oluseduze eline-hemochromatosis, buza umhlinzeki wakho mayelana nokuhlolwa kwe-genetic. Ukuhlolwa kwe-genetic kungahlola ukuthi unayo yini i-gene eyaandisa ingozi yakho ye-hemochromatosis.
Izimbangela
I-Hemochromatosis ivame ikakhulu ngenxa yokuguquka kwesizinda. Lesi sizinda silawula inani le-ayoni umzimba osilimazayo ekudleni. Isizinda esiguqukile sidluliselwa kubazali kubantwana. Lolu hlobo lwe-hemochromatosis yilona eliqhele kakhulu. Kubizwa ngokuthi i-hemochromatosis elidluliselwa ezizukulwaneni. Isizinda esibizwa nge-HFE yisizathu esivame kakhulu se-hemochromatosis elidluliselwa ezizukulwaneni. Uzuza isizinda esisodwa se-HFE kuye komunye wabazali bakho. Isizinda se-HFE sinezinguquko ezimbili eziqhele kakhulu, i-C282Y ne-H63D. Ukuhlolwa kwe-genetic kungabonisa ukuthi unezinguquko eziyini esizindeni sakho se-HFE. Uma uzuza izizinda ezimbili eziguqukile, ungathuthukisa i-hemochromatosis. Ungadlulisela futhi isizinda esiguqukile kubantwana bakho. Kodwa akuwona wonke umuntu ozuza izizinda ezimbili oqala ukuba nezinkinga ezihlobene nokuqina kwe-ayoni kwe-hemochromatosis. Uma uzuza isizinda esisodwa esiguqukile, akunakwenzeka ukuthi uthuthukise i-hemochromatosis. Noma kunjalo, uqale ukuba ngumthwali futhi ungadlulisela isizinda esiguqukile kubantwana bakho. Kodwa abantwana bakho abayikuqala ukuba nesifo ngaphandle kokuthi bazuze futhi enye isizinda esiguqukile komunye umzali. I-ayoni idlala indima ebalulekile emisebenzini eminingi yomzimba, kufaka phakathi ukusiza ukukhiqiza igazi. Kodwa i-ayoni eningi inenkani. Uhormoni olukhishwa yibhefu, oluthiwa yi-hepcidin, kulawula indlela i-ayoni esetshenziswa futhi ithathwe ngayo emzimbeni. Kulawula futhi indlela i-ayoni engaphezulu igcinwa ngayo ezingutsheni ezahlukene. Ku-hemochromatosis, indima ye-hepcidin ithonya, ibangele umzimba ukuba uthathe i-ayoni eningi kunalokho okudingekayo. Le ayoni engaphezulu igcinwa ezingutsheni ezinkulu, ikakhulukazi ibhefu. Ngesikhathi eside seminyaka, i-ayoni egcinwe ingabangela umonakalo omkhulu ongase uholele ekwehlulekeni kwezingutsheni. Ingase futhi iholele ezifweni ezihlala isikhathi eside, njenge-cirrhosis, isifo sikashukela nokuhluleka kwenhliziyo. Abantu abaningi banezinguquko zesizinda ezibangela i-hemochromatosis. Noma kunjalo, akuwona wonke umuntu oqala ukuba nokuqina kwe-ayoni ngezinga elibangela umonakalo wezicubu nezingutsheni. I-hemochromatosis elidluliselwa ezizukulwaneni akuyona kuphela uhlobo lwe-hemochromatosis. Ezinye izinhlobo zihlanganisa: I-hemochromatosis yabantwana. Lokhu kubangela izinkinga ezifanayo kubantu abasebasha njengoba i-hemochromatosis elidluliselwa ezizukulwaneni yenza kubantu abadala. Kodwa ukuqina kwe-ayoni kuqala ngokushesha kakhulu, futhi izimpawu zivame ukuvela phakathi kweminyaka engu-15 no-30. Lesi simo sibangelwa yizinguquko ezizindeni ze-hemojuvelin noma i-hepcidin. I-hemochromatosis yasebuntwaneni. Kulesi sifo esinzima, i-ayoni iqina ngokushesha ebhefweni lomntwana ophethwe esizalweni. Kucatshangwa ukuthi yisifo se-autoimmune, lapho umzimba uzibulala khona. I-hemochromatosis yesibili. Lolu hlobo lwesifo aludluliselwa futhi kuvame ukubizwa ngokuthi ukuqina kwe-ayoni. Abantu abanezinye izinhlobo ze-anemia noma isifo sebhefu bangase badinge ukuthola igazi ngokuphindaphindiwe. Lokhu kungase kuholele ekuqineni kwe-ayoni okukhulu.
Izici eziyingozi
Izimbangi ezandisa ingozi ye-hemochromatosis zihlanganisa: Ukuba neziqeshana ezimbili ze-HFE gene eguquliwe. Lona yilona banga elikhulu lenkinga ye-hemochromatosis ezuzwe ngokuzalwa. Mlando womndeni. Ukuba nomzali noma umfowabo onayo i-hemochromatosis kukhuphula amathuba okubulawa yileyo gciwane. Ubuzwe. Abantu abavela enyakatho yeYurophu banesihlobo esikhulu sokuba ne-hemochromatosis ezuzwe ngokuzalwa kunabantu abavela kwezinye izizwe. I-Hemochromatosis ayivamile kubantu abamnyama, abaseSpain nabavela e-Asia. Ubulili. Amadoda anethuba elikhulu lokuba abe nezimpawu ze-hemochromatosis ekuqaleni kweminyaka. Ngenxa yokuthi abesifazane balahlekelwa yi-iron ngexesha lokuya exeshini nokubeletha, bathambekele ekugcineni i-mineral encane kunamadoda. Ngemva kokuphela kwexesha noma ukususwa kwesisu, ingozi ikhuphukela kwabesifazane.
Izingqinamba
- Izinkinga ze-Liver. I-Cirrhosis — ukukhubazeka okungapheliyo kwe-liver — ingenye nje yezinkinga ezingase zenzeke. I-Cirrhosis iyakwandisa ingozi yakho yomdlavuza we-liver nezinye izinkinga eziyingozi ezingabulala.
- Ukuqina kweswekile. Ukuphazamiseka kwe-pancreas kungabangela ukuqina kweswekile.
- Izinkinga zenhliziyo. Ukuqina kwesinyithi enhliziyweni yakho kuchaphazela ikhono lenhliziyo yokusabalalisa igazi elikwaneleyo emzimbeni wakho. Lokhu kubizwa ngokuthi i-congestive heart failure. I-Hemochromatosis nayo ingabangela ukungalingani komjikelezo wenhliziyo, okuthiwa yi-arrhythmias.
- Izinkinga zokuzala. Ukuqina kwesinyithi kungabangela ukungasebenzi kahle kokuzala nokulahleka kwesifiso sobulili kubantu. Kungabangela ukungabikho komjikelezo wokuya exeshini kwabesifazane.
- Ukushintsha kombala wesikhumba. Ukufakwa kwesinyithi ezicellini zesikhumba kungenza isikhumba sakho sibonakale siwubronzi noma siwumhlophe ngombala.
Ukuxilongwa
I-Hemochromatosis ingaba nzima ukuyihlonza. Izimpawu zokuqala ezinjengamalunga aqinile nokuqeda amandla kungenzeka kube ngenxa yezimo ezingaphandle kwe-hemochromatosis.
Abantu abaningi abanesifo abanawo amanye amahloni ngaphandle kwamazinga aphezulu e-ayoni egazini labo. I-Hemochromatosis ingabonakala ngenxa yemiphumela yokuhlolwa kwegazi engavamile ngemuva kokwenziwa kokuhlolwa ngezizathu ezingezona. Kungenzeka futhi ivezwe lapho kuhlolwa amalungu omndeni abantu abaxilongwe ngalesi sifo.
Izivivinyo ezimbili eziyisihluthulelo zokuthola ukwanda kwe-ayoni yilezi:
- Ukwengezeka kwe-transferrin serum. Lo vi vinyo luqapha inani le-ayoni eboshelwe ku-protein transferrin ethwala i-ayoni egazini lakho. Amanani okunyuka kwe-transferrin angaphezu kuka-45% abhekwa njengaphezulu kakhulu.
Lezi zivivinyo zegazi ze-ayoni kusebenza kangcono uma usuqede ukudla. Ukuphakama kokunye noma konke lokhu kuvivinyo kungatholakala kwezinye izifo. Kungadingeka uphinde wenze izivivinyo ukuze uthole imiphumela enembile kakhulu.
Umhlinzeki wakho wezempilo angakuncoma ezinye izivivinyo ukuze aqinisekise ukuxilongwa nokuqapha ezinye izinkinga:
- Izivivinyo zomsebenzi welaphu. Lezi zivivinyo zingasiza ekuhlonzeni ukonakala kwelaphu.
- MRI. I-MRI iyindlela esheshayo nekungathinti lutho yokulinganisa izinga lokwanda kwe-ayoni elephwini lakho.
- Ukuhlolwa kokuguquka kwe-jini. Ukuhlolwa kwe-DNA yakho ngokuguquka kwe-jini ye-HFE kunconywa uma unamazinga aphezulu e-ayoni egazini lakho. Uma ucabanga ngokuhlolwa kwe-genetic ye-hemochromatosis, xoxa ngezizathu zokwenza nokungawenzi nomhlinzeki wakho noma umxhumanisi we-genetic.
- Ukususa isampula yethishu yelaphu ukuze uhlolwe. Uma umhlinzeki wakho ekrotha ukonakala kwelaphu, umhlinzeki angalandela i-biopsy yelaphu. Phakathi ne-biopsy yelaphu, isampula yethishu isuswa elephwini lakho usebenzisa unhlangothi olucinyiwe. Isampula iya elabhorethri ukuze ihlolwe ukuba khona kwe-ayoni. Ilabhorethri ibuye ibuke ubufakazi bokonakala kwelaphu, ikakhulukazi ukwenziwa amabala noma i-cirrhosis. Izingozi ze-biopsy zihlanganisa ukugqwala, ukuphuza igazi nokutheleleka.
Ukuhlolwa kwe-genetic kunconywa kubo bonke abazali, abafowabo nodadewabo nabantwana banoma ubani oxilongwe nge-hemochromatosis. Uma kutholakala ukuguquka kwe-jini komunye umzali kuphela, khona-ke abantwana abadingi ukuhlolwa.
Ukwelashwa
Abahlinzeki bezempilo bangayelapha ngokuphumelelayo futhi ngokuphepha i-hemochromatosis ngokususa igazi emzimbeni njalo. Lokhu kufana nokunikela igazi. Inqubo yaziwa ngokuthi i-phlebotomy.
Umgomo we-phlebotomy ukunciphisa amazinga akho e-ayina. Inani legazi elisusiwe nokuthi lisuswa kangakanani kuncike ebudaleni bakho, impilo yakho yonke kanye nobunzima bokugcwala kwe-ayina.
- Uhlelo lokwelapha lokuqala. Ekuqaleni, ungase uthathe ipayinti (cishe ama-milliliters angu-470) legazi kanye noma kabili ngesonto - ngokuvamile esibhedlela noma ehhovisi lomhlinzeki wakho. Ngenkathi ukhononda esihlalweni, inhlanzi ifakwa emithanjeni yakho. Igazi ligeleza kusuka enhlanzini liye etyubeni ehlanganisiwe nesikhwama segazi. Inqubo yokususa igazi ibhekwa njengokususa igazi lokwelapha.
- Uhlelo lokwelapha lokuzinakekela. Uma amazinga akho e-ayina ehla, igazi lingasuswa kancane, ngokuvamile njalo ngenyanga ezimbili kuya kwezintathu. Abanye abantu bangagcina amazinga e-ayina avamile ngaphandle kokuthatha igazi. Abanye bangase badinge ukususa igazi njalo ngenyanga. Uhlelo kuncike ukuthi i-ayina yakha kangcono kangakanani emzimbeni wakho.
Ukwelapha i-hemochromatosis kungasiza ekuqedeni izimpawu zokukhathala, ubuhlungu besisu nokumnyama kwesikhumba. Kungasiza ukuvimbela izinkinga ezinkulu ezifana nesifo sesibindi, isifo senhliziyo nesifo sikashukela. Uma usuvele unale methi, i-phlebotomy inganciphisa intuthuko yesifo. Kwezinye izimo, kungase kube yikho ukuguqula.
I-phlebotomy ayikwazi ukuguqula i-cirrhosis noma ubuhlungu bejoyinti, kodwa inganciphisa intuthuko.
Uma une-cirrhosis, umhlinzeki wakho wezempilo angase akukhuthaze ukuhlolwa okungahleliwe kungalala lomdlavuza wesibindi. Lokhu ngokuvamile kuhilela i-ultrasound yesisu kanye ne-CT scan.
I-phlebotomy ingase ingabi yindlela uma unezimo ezithile, ezifana ne-anemia noma izinkinga zenhliziyo. Esikhundleni salokho, umhlinzeki wakho angase akukhuthaze imithi yokususa i-ayina engaphezulu. Imithi ingafakwa emzimbeni wakho, noma ingathengwa njengephilisi. Imithi ihlanganisa i-ayina engaphezulu, ivumela umzimba wakho ukuba uxoshe i-ayina ngomchamo wakho noma isitulo ngenqubo ebizwa ngokuthi i-chelation (KEE-lay-shun). I-Chelation ayisetshenziswa ngokuvamile ku-hemochromatosis.
Umshwana wokuzihlangula: I-August iyinkundla yolwazi lwezempilo futhi izimpendulo zayo azihlanganisi iseluleko sezokwelapha. Njalo thintana nochwepheshe bezokwelapha onelayisensi eduze nawe ngaphambi kokwenza noma yiluphi ushintsho.