Ngaba uyayazi i-Erdheim-Chester Disease? Makhe sithethe ngale meko ingaqhelekanga!

Ngaba wakha weva ngeSifo se-Erdheim-Chester (ECD)? Usenokuba wothukile kancinci xa usiva eli gama. Kuba esi sisifo esingaqhelekanga kakhulu esingabonakaliyo kwihlabathi liphela. Nangona kunjalo, ekubeni sinokuchaphazela iinkqubo ezahlukeneyo zamalungu omzimba wethu, kubaluleke kakhulu ukwazi oku. Ngoko ke namhlanje, masithethe ngeSifo se-Erdheim-Chester (ECD).

Yintoni isifo se-Erdheim-Chester (ECD)?

Ngamafutshane, isifo i-Erdheim-Chester (ECD) sisifo segazi esingaqhelekanga. Sikweqela lezifo ezibizwa ngokuba yi-histiocytosis . Ngoku usenokuba uzibuza ukuba zeziphi ezi histiocytes. Ii-Histiocytes luhlobo olukhethekileyo lweseli kwinkqubo yethu yokuzikhusela komzimba . Zifana namajoni amancinci akhusela imizimba yethu. Ezi seli zihlala zifumaneka kwiindawo ezifana nomongo wethu wethambo, igazi, ulusu, imiphunga, ipleyini, nesibindi.

Nangona kunjalo, kumntu onesifo i-Erdheim-Chester (ECD), la ma-histiocyte akhula ngendlela engalawulekiyo . Kufana nokuba namajoni amaninzi kakhulu. La ma-histiocyte angaphezulu aqala ukukhula kwiindawo ezahlukeneyo zomzimba apho kungafanelekanga ukuba akhule khona. Emva koko angenza amathumba kwaye onakalise izicubu ezisempilweni . Oku kwenzeka kwi-ECD.

Ixhaphake kangakanani le sifo?

Njengoko besitshilo ngaphambili, esi sisifo esingaqhelekanga . Cinga nje, ukusukela oko esi sifo safunyanwa okokuqala ngo-1930, kubekho amatyala amalunga nama-800 kuphela axeliweyo kwihlabathi liphela. Nangona kunjalo, abanye oogqirha bakholelwa ukuba eli nani linokuba phezulu nangakumbi kuba abanye abantu abanesi sifo abafumani ngxelo ifanelekileyo. Oku kusenokubangelwa kukuba amazwe kwihlabathi liphela okwangoku awanalo inkqubo efanayo yokugcina iirekhodi zezi zigulana.

Isifo i-Erdheim-Chester (ECD) sixhaphake kakhulu kubantu abadala abakwiminyaka ephakathi . E-United States, umyinge wobudala bokuxilongwa yi-46 yeminyaka. Nangona kunjalo, kuye kwaxelwa ukuba sinjalo kubantwana abancinci kakhulu. Enye into kukuba amadoda anamathuba amaninzi okufumana esi sifo. Kuxelwe ukuba phakathi kwe-70% kunye ne-75% yezigulana ngamadoda.

Zithini iimpawu?

Indlela isifo i-Erdheim-Chester (ECD) esichaphazela ngayo umntu ngamnye yahlukile kakhulu . Oku kuthetha ukuba ayinguye wonke umntu oneempawu ezifanayo. Iimpawu zixhomekeke ekubeni zeziphi iindawo zomzimba ezonakeleyo yi-histiocytes egqithisileyo, njengoko besitshilo ngaphambili, kwaye zeziphi iinkqubo zomzimba ezichaphazelekileyo. Ngamanye amaxesha, esi sifo sinokubakho ngaphandle kokubonisa naziphi na iimpawu (ezingenazimpawu). Kwimeko enjalo, ugqirha ufumana ulwazi ngaso kwi-scan (`imaging`) okanye kuvavanyo lwegazi (`lebhu`) olwenziwe ngesinye isizathu.

Makhe sijonge iinkqubo zomzimba ezichaphazeleka kakhulu kunye neempawu ezinxulumene nazo.

Indlela echaphazela ngayo amathambo

I-ECD inokubangela ukuqina okungaqhelekanga kwamathambo (i-osteosclerosis). Oku ngamanye amaxesha kunokubangela iintlungu zamathambo . Uphawu oluqhelekileyo lwesi sifo kukuqina kwamathambo kunye nentlungu, ingakumbi kwimilenze yomibini . Oku kuqina kwamathambo kunokubonakala ngokucacileyo kwiiskeni.

Impembelelo kwizintso

Izintso zethu kunye nezicubu ezisingqongileyo (i-`retroperitoneum`) nazo zingonakaliswa zezi histiocytes. Oku kunokukhokelela kwiimeko ezifana nezi:

• Ukudumba kwezintso.
• Ukuwohloka kwezintso.
• Ukungasebenzi kakuhle kwezintso.

Impembelelo kwinkqubo ye-endocrine (inkqubo ye-hormone)

Ukuba ezi histiocytes zonakalisa amadlala avelisa iihomoni ezilawula iinkqubo ezahlukeneyo emzimbeni wethu, iingxaki ezahlukeneyo zeehomoni zinokuvela. Iimpawu ziyahluka ngokuxhomekeke kwidlala elonakeleyo.

• Ukuba i-pituitary gland yonakele: Ukwehla kwemveliso yehomoni enye okanye ezingaphezulu ze-pituitary (hypopituitarism).
• Ukuba i-thyroid gland yonakele: Ukuncipha kweehomoni ze-thyroid (hypothyroidism).
• Ukuba ii-gonads zonakele: Amanqanaba aphantsi eehomoni zesini (ezifana ne-testosterone kunye ne-estrogen) (`i-hypogonadism`).
• Ukuba i-adrenal gland yonakele: Ukuncipha kweehomoni ze-adrenal (ukungasebenzi kakuhle kwe-adrenal).

Ukonakala kwe-pituitary gland kunokubangela imeko ebizwa ngokuba yi-diabetes insipidus , ebangela iimpawu ezifana nokuchama rhoqo kunye nokunxanwa kakhulu. Kufunyenwe ukuba malunga nesiqingatha sezigulane ze-ECD nazo zinale meko.

Impembelelo kwinkqubo yemithambo-luvo

Ingqondo yethu kunye nenkqubo yemithambo-luvo nayo inokonakala yile michiza. Emva koko ungabona iimpawu ezifana nezi:

• Ukulahlekelwa yibhalansi xa uhamba, iingxaki zokulungelelanisa (ataxia).
• Intetho engacacanga (dysarthria) ngenxa yokungakwazi ukulawula izihlunu ngexesha lokuthetha.
• Ubunzima bokucinga, ukugxila, okanye ukukhumbula.
• Intloko ebuhlungu.

Impembelelo emehlweni

I-ECD inokuchaphazela iliso elinye okanye omabini.

• Amaqhuma atyheli, athambileyo kwiinkophe (xanthelasma).
• Ukubonakala kweenkophe (i-proptosis).
• Intlungu yamehlo.
• Ukuncipha okanye ukulahleka kombono.

Impembelelo kwinkqubo yokuphefumla

Nangona iiskeni zibonisa ukuba imiphunga ichaphazeleka zezi histiocytes, iimpawu azisoloko zisenzeka . Nangona kunjalo, ukuba iimpawu ziyenzeka, zingabandakanya:

• Ukukhwehlela.
• Ubunzima bokuphefumla (ukuphelelwa ngamandla).

Ukuba ayinyangwa kakuhle , inokukhokelela ekuqhekekeni okungapheliyo kwemiphunga (i-pulmonary fibrosis), imeko enzulu.

Impembelelo kwinkqubo yentliziyo

Ugqirha wakho angabona kwakhona kwiiskeni ukuba ii-histiocytes zichaphazele intliziyo yakho kunye nemithambo yegazi. Oku kunokuba yingozi ebomini ukuba akunyangwa. I-ECD inokubangela oku kulandelayo:

• Ukudumba kwengxowa ejikeleze intliziyo (i-pericardial effusion).
• Uxinzelelo lwegazi oluphezulu (i-renal hypertension) lwenzeka ngenxa yokunqongophala kwegazi ukuya ezintsoni.
• Ukumelwa yintliziyo.

Impembelelo kulusu

Uphawu oluphambili olubonakala eluswini ngamaqhuqhuva atyheli (`xanthelasma`) avela kwiinkophe. Ukongeza, amaqhuqhuva atyheli-mdaka anokubonwa nakwezi ndawo:

• Ebusweni.
• Entanyeni.
• Isifuba nesisu (`Isihlunu`).
• Kwindawo yempumlo.

Ukongeza, ezi histiocytes zigqithisileyo zinokuqokelelana kwaye zonakalise izicubu kwiindawo ezifana nepleen, isibindi, kunye nomongo wethambo.

Zithini izizathu zesifo?

Ngoku siyazi ukuba i-ECD sisifo apho ii-histiocytes ziphindaphindeka ngokungalawulekiyo, zisasazeka, kwaye zonakalisa izicubu kunye namalungu asempilweni. Nangona kunjalo, izazinzulu azikayazi kakuhle ukuba kutheni ezi seli zikhula ngokungalawulekiyo. Nangona kunjalo, uphando lwakutshanje lufumanise ukuba utshintsho oluthile lwezakhi zofuzo ludlala indima.

Abantu abangaphezu kwesiqingatha abanesifo se-Erdheim-Chester (ECD) bafunyenwe benenguqu kwi-BRAF gene, nto leyo ebangela ukuba ii-histiocytes zikhule ngendlela engalawulekiyo.

Nangona i-BRAF gene yeyona nguqu ixhaphakileyo, izazinzulu zichonge ezinye iinguqu ezininzi zezakhi zofuzo ezinxulumene ne-ECD. Ezi zinto zifunyenweyo zivumele izazinzulu ukuba ziphuhlise unyango olujolise kwezo zakhi zofuzo ziguqukileyo kwaye ziyeke ukukhula okungaqhelekanga kwee-histiocytes.

Sifunyaniswa njani esi sifo?

Ngenxa yokuba i-ECD sisifo esingaqhelekanga kwaye iimpawu zahlukile kumntu nomntu, oogqirha basenokungayikrokreli kwangoko le meko. Ke ngoko, kungathatha ixesha ukufumana uxilongo . Kusenokufuneka ubone oogqirha abaninzi.

Ugqirha wakho uza kuqwalasela iimpawu zakho kunye neziphumo zovavanyo oluninzi ukuze abone ukuba unayo na i-ECD. Nazi ezinye zezinto ezinokukunceda ukuba uxilonge:

• Iinkqubo zokuthatha imifanekiso: Iiskeni ezahlukeneyo (ii-X-ray, iiskeni zamathambo, iiskeni zePET, iiskeni zeCT, ii-MRI) zingasetyenziselwa ukubona apho emzimbeni la ma-histiocyte angene khona kwizicubu. Zinokubonisa nomonakalo kwizicubu ezithambileyo ezifana nengqondo, isifuba, kunye namalungu esisu.
• Uvavanyo lwelebhu:Olu vavanyo lunokufumanisa iingxaki ezithile ngokusebenza kwamalungu omzimba (okunokuthi kunxulunyaniswe ne-ECD), kunye nokujonga izinto ezifana nokudumba, ukungasebenzi kakuhle kwenani leeseli zegazi, kunye notshintsho kumanqanaba eehomoni.
• I-Biopsy: I-biopsy ibandakanya ukuthatha isampuli encinci yezicubu ezichaphazelekileyo uze uyihlole phantsi kwe-microscope. Emva koko iiseli ziyavavanywa ukuze kubonwe iimpawu ze-ECD kunye notshintsho lwemfuza olufana ne-BRAF. Ukwazi iimpawu zezi seli kunokunceda ugqirha wakho ukuba agqibe ukuba loluphi unyango olulungele wena.

Zithini iindlela zonyango?

Ukuba awunazo iimpawu kwaye i-ECD yakho ayichaphazeli impilo yakho, ugqirha wakho unokugqiba ekubeni ayijonge imeko yakho. Nangona kunjalo, uninzi lwabantu abane-ECD baya kufuna unyango . Nangona kungekho nyango, kukho unyango oluninzi olunokunceda ukulawula imeko.

Nazi iindlela eziphambili zonyango:

• Unyango olujoliswe kulo: Oku kuquka ukusebenzisa amayeza ajolise kwiinguqu zemfuza ezibangela ukuba ii-histiocytes zande ngokungalawulekiyo. I-FDA ivumile iyeza elibizwa ngokuba yiVemurafenib kwizigulana ze-ECD ezine-BRAF gene mutation, kunye neyeza elibizwa ngokuba yiCobimetinib kwabo bane-MEK gene mutation. Ngokuxhomekeke kuhlobo lwenguqu kwiiseli zakho, ugqirha wakho unokucebisa la mayeza okanye ezinye iindlela ezijoliswe kuzo okanye ukuhlanganiswa kwamayeza.
• Unyango lwe-Immunotherapy: La mayeza anceda amajoni ethu omzimba ukuba aqaphele kwaye alwe ngcono neeseli zomhlaza (kule meko, ii-histiocytes ezingaqhelekanga). I-Interferon-alpha liyeza le-immunotherapy elisetyenziswa rhoqo kwi-ECD.
• Unyango lweKhemotherapy: Unyango lweKhemotherapy lusebenzisa amayeza ukubulala iiseli zomhlaza (iiseli ezingaqhelekanga) emzimbeni wonke kunye nokuthintela ukukhula kweethumba. Iyeza lekhemotherapy eliqhelekileyo elisetyenziselwa i-ECD yi -cladribine . Nangona kunjalo, ugqirha wakho unokucebisa amanye amayeza ekhemotherapy okanye indibaniselwano yamayeza.

Ukongeza kwezi ndlela zonyango ziphambili, ugqirha wakho unokucebisa ezinye iindlela zonyango ezinokukunceda uthomalalise iimpawu zakho. Nangona ezi ndlela zonyango zingayi kuyithintela i-histiocytes ekungeneni kwizicubu zakho, zinokukunceda ukunciphisa ukungakhululeki okuzivayo.

• Utyando: Kunokufuneka utyando ukuze kulungiswe umonakalo othile wezicubu obangelwe yi-ECD. Umzekelo, ukudumba kunye nezicubu ezonakeleyo zinokuvala imibhobho ethwala umchamo (ii-ureters). Ukuba oku kuyenzeka, kunokufuneka utyando ukuze kulungiswe loo monakalo.
• Unyango ngemitha:Unyango lwemitha lungacetyiswa ukutshabalalisa iiseli ezingaqhelekanga kwindawo ethile yomzimba kunye nokunciphisa iimpawu ezingathandekiyo ezibangelwa zizo.
• IiCorticosteroids: La mayeza anokunciphisa ukudumba okubangelwa kukungena kwee-histiocytes.

Usenokufumana ithuba lokuthatha inxaxheba kuvavanyo lweklinikhi . Uvavanyo lweklinikhi luphononongo oluvavanya ukhuseleko kunye nokusebenza kakuhle konyango olutsha kunye neendibaniselwano zonyango olutsha. Buza ugqirha wakho ukuba ungathatha inxaxheba kuvavanyo lweklinikhi lwesifo se-Erdheim-Chester (ECD).

Ngaba oku kungathintelwa?

Ngelishwa, akukho ndlela yokuthintela isifo i-Erdheim-Chester (ECD). Nangona kunjalo, esi sifo sinokulawulwa kakhulu ngonyango.

Ungaphila ixesha elingakanani nesi sifo?

Ingqikelelo yakho ixhomekeke ekubeni zeziphi iindawo zomzimba wakho ezichaphazeleka yi-histiocytes kunye nendlela osabela ngayo kunyango. Nangona kunjalo, ngophuhliso lonyango olutsha, olufana nonyango olujoliswe kulo, iziphumo zokusinda ezinxulumene ne-ECD ngoku ziphucuke kakhulu.

Khawuthelekelele, ngo-1996, izinga lokusinda kweminyaka emihlanu kwizigulane ze-ECD lalingama-43% kuphela. Nangona kunjalo, ngokutsho kophando lwakutshanje, elo zinga linyukile laya kuma-83%!

Thetha nogqirha wakho malunga nendlela esiza kuqhubeka ngayo isifo sakho ngokusekwe kwimeko yakho kunye nendlela osabela ngayo kunyango.

Ufanele uye nini kugqirha?

I-ECD ifuna unyango oluqhubekayo kunye nokubekwa esweni . Ugqirha wakho uza kukuxelela ukuba kufuneka ubonane nogqirha wakho kangaphi, kunye nokuba kufuneka wenze iiskeni kunye novavanyo lwegazi na.

Unyango oluninzi lwe-ECD lunokubangela iziphumo ebezingalindelekanga ezingathandekiyo. Ukongeza kwiqela lakho lonyango lwe-ECD, ukufumana uncedo kwiqela lonyango oluthomalalisayo kunokukunceda ulawule iziphumo ebezingalindelekanga zezi zonyango kwaye ujongane noxinzelelo oluza nokuxilongwa.

Okokugqibela, eyona nto ibalulekileyo (Umyalezo Wokuya Ekhaya)

Isifo se-Erdheim-Chester (ECD) sisifo esichaphazela umntu ngamnye ngendlela eyahlukileyo, esibangelwa kukwanda kakhulu kwee-histiocytes, ezonakalisa izicubu. Iimpawu zesi sifo ziyahluka kumntu nomntu. Ezi zinokuchaphazela amava akho ngokubanzi, kuquka nonyango olufumanekayo.

Kodwa, ngethamsanqa, ngenkqubela phambili yakutshanje, izazinzulu ziye zakwazi ukufumana unyango oluphucula ukubikezela kwe-ECD.Thetha ngokukhululekileyo nogqirha wakho malunga neendlela zonyango ezikulungeleyo kunye neziphumo onokuzilindela, ngokusekelwe kwiimpawu ezithile zemeko yakho. Khumbula, nangona kunjalo kwimeko engaqhelekanga, ungaya phambili ngamandla ngengcebiso kunye nenkxaso efanelekileyo yezonyango.

Isifo se- Erdheim-Chester, i-ECD, i-histiocytosis, izifo ezingaqhelekanga, utshintsho lwemfuza, i-BRAF, iimpawu, unyango