Uyazazi yini izifo ze-Erdheim-Chester? Ake sixoxe ngalesi simo esingavamile!

Wake wezwa nge-Erdheim-Chester Disease (ECD)? Kungenzeka ukuthi wamangala kancane lapho uzwa leli gama. Ngoba lesi yisifo esingavamile kakhulu esibonakala kaningi emhlabeni. Kodwa-ke, njengoba singathinta izinhlelo ezahlukene zezitho zomzimba wethu, kubaluleke kakhulu ukuqaphela lokhu. Ngakho-ke namuhla, ake sixoxe nge-Erdheim-Chester Disease (ECD).

Siyini isifo se-Erdheim-Chester (ECD)?

Kalula nje, isifo i-Erdheim-Chester (ECD) siyisifo segazi esingavamile kakhulu. Singeseqembu lezifo ezibizwa ngokuthi i-histiocytosis . Manje ungase uzibuze ukuthi lawa ma-histiocytes ayini. Ama-Histiocytes awuhlobo olukhethekile lweseli ohlelweni lwethu lokuzivikela komzimba . Afana namasosha amancane avikela imizimba yethu. Lawa maseli avame ukutholakala ezindaweni ezifana nomnkantsha wethu, igazi, isikhumba, amaphaphu, ubende, nesibindi.

Kodwa-ke, kumuntu onesifo i-Erdheim-Chester (ECD), lawa ma-histiocyte akhula ngendlela engalawuleki . Kufana nokuba namasosha amaningi kakhulu. Lawa ma-histiocyte engeziwe aqala ukukhula ezingxenyeni ezahlukene zomzimba lapho kungafanele khona. Angakha amathumba futhi alimaze izicubu ezinempilo . Yilokhu okwenzekayo ku-ECD.

Sivame kangakanani lesi sifo?

Njengoba sesishilo ngaphambili, lesi yisifo esingavamile kakhulu . Cabanga nje, selokhu lesi sifo satholakala okokuqala ngo-1930, kube nezigameko ezingaba ngu-800 kuphela ezibikiwe emhlabeni jikelele. Kodwa-ke, abanye odokotela bakholelwa ukuthi leli nani lingase libe phezulu nakakhulu ngoba abanye abantu abanalesi sifo abahlolwanga kahle. Lokhu kungase kube ngenxa yokuthi amazwe emhlabeni jikelele okwamanje awanalo uhlelo olufanayo lokugcina amarekhodi alezi ziguli.

Isifo i-Erdheim-Chester (ECD) sivame kakhulu kubantu abadala abaseminyakeni ephakathi . E-United States, isilinganiso sobudala bokuxilongwa siyiminyaka engama-46. Kodwa-ke, kubikwe ezinganeni ezincane kakhulu. Enye into ukuthi amadoda anamathuba amaningi okuthola lesi sifo. Kubikwa ukuthi phakathi kuka-70% no-75% weziguli ngamadoda.

Ziyini izimpawu?

Indlela isifo i-Erdheim-Chester (ECD) esithinta ngayo umuntu ngamunye ihlukile kakhulu . Lokhu kusho ukuthi akuwona wonke umuntu onezimpawu ezifanayo. Izimpawu zincike ekutheni yiziphi izingxenye zomzimba ezilimele yi-histiocytes eningi, njengoba sishilo ngaphambili, nokuthi yiziphi izinhlelo zezitho ezithintekile. Ngezinye izikhathi, lesi sifo singaba khona ngaphandle kokubonisa izimpawu (ezingenazimpawu). Kuleso simo, udokotela uthola ulwazi ngaso ngokuskena (`imaging`) noma ukuhlolwa kwegazi (`lab tests`) okwenziwe ngesinye isizathu.

Ake sibheke izinhlelo zezitho zomzimba ezithinteka kakhulu kanye nezimpawu ezihambisana nazo.

Indlela ethinta ngayo amathambo

I-ECD ingabangela ukuqina kwamathambo okungajwayelekile (i-osteosclerosis). Lokhu ngezinye izikhathi kungabangela ubuhlungu bamathambo . Uphawu oluvame kakhulu lwalesi sifo ukuqina kwamathambo kanye nobuhlungu, ikakhulukazi emilenzeni yomibili . Lokhu kuqina kwamathambo kungabonakala ngokucacile kuma-scan.

Umphumela ezinso

Izinso zethu kanye nezicubu ezizungezile (i-`retroperitoneum`) nazo zingalimala yilawa ma-histiocyte. Lokhu kungaholela ezimweni ezifana nalezi:

• Ukuvuvukala kwezinso.
• Ukuwohloka kwezinso.
• Ukwehluleka kwezinso.

Umphumela ohlelweni lwe-endocrine (uhlelo lwama-hormone)

Uma la ma-histiocyte elimaza izindlala ezikhiqiza ama-hormone alawula izinqubo ezahlukahlukene emzimbeni wethu, kungavela izinkinga ezahlukahlukene zama-hormone. Izimpawu ziyahlukahluka kuye ngokuthi indlala yonakele.

• Uma indlala ye-pituitary yonakele: Ukwehla kokukhiqizwa kwehomoni eyodwa noma ngaphezulu ye-pituitary (hypopituitarism).
• Uma indlala yegilo yonakele: Ukwehla kwamahomoni egilo (i-hypothyroidism).
• Uma ama-gonad onakele: Amazinga anciphile ama-hormone ocansi (njenge-testosterone ne-estrogen) (`i-hypogonadism`).
• Uma indlala ye-adrenal yonakele: Ukwehla kwama-hormone e-adrenal (ukungasebenzi kahle kwe-adrenal).

Ukulimala kwendlala ye-pituitary kungabangela isimo esibizwa ngokuthi i-diabetes insipidus , esibangela izimpawu ezifana nokuchama njalo kanye nokoma ngokweqile. Kutholakale ukuthi cishe ingxenye yeziguli ze-ECD nazo zinalesi simo.

Umphumela ohlelweni lwezinzwa

Ubuchopho bethu kanye nesimiso sezinzwa nakho kungalimaza lawa ma-histiocyte. Ngemuva kwalokho ungase ubone izimpawu ezifana nalezi:

• Ukulahlekelwa ibhalansi lapho uhamba, izinkinga zokuxhumanisa (ataxia).
• Inkulumo engacacile (i-dysarthria) ngenxa yokungakwazi ukulawula imisipha ngesikhathi sokukhuluma.
• Ubunzima bokucabanga, ukugxila, noma ukukhumbula.
• Ikhanda elibuhlungu.

Umphumela emehlweni

I-ECD ingathinta iso elilodwa noma womabili.

• Amaqhubu aphuzi, athambile ezinkopheni (xanthelasma).
• Ukuphuma kwamehlo (i-proptosis).
• Ubuhlungu bamehlo.
• Ukuncipha noma ukulahlekelwa umbono.

Umphumela ohlelweni lokuphefumula

Nakuba ama-scan abonisa ukuthi amaphaphu athintwa yilawa ma-histiocyte, izimpawu azivamile ukuvela . Kodwa-ke, uma kuvela izimpawu, zingase zihlanganise:

• Ukukhwehlela.
• Ubunzima bokuphefumula (ukuphelelwa umoya).

Uma kungelashwa kahle , kungaholela ekuqhekekeni kwamaphaphu unomphela (i-pulmonary fibrosis), okuyisimo esibi kakhulu.

Umphumela ohlelweni lwenhliziyo nemithambo yegazi

Udokotela wakho angase abone futhi kuma-scan ukuthi ama-histiocyte athinte inhliziyo yakho kanye nemithambo yegazi. Lokhu kungaba yingozi empilweni uma kungelashwa. I-ECD ingabangela okulandelayo:

• Ukuvuvukala kwesikhwama esizungeze inhliziyo (i-pericardial effusion).
• Umfutho wegazi ophezulu (umfutho wegazi ophakeme wezinso) kwenzeka ngenxa yokuvinjelwa kokugeleza kwegazi ezinso.
• Ukwehluleka kwenhliziyo.

Umphumela esikhumbeni

Uphawu oluyinhloko olubonakala esikhumbeni amaqhubu aphuzi (`xanthelasma`) avela ezinkopheni. Ngaphezu kwalokho, amaqhubu aphuzi ansundu angabonakala nakulezi zindawo:

• Ebusweni.
• Entanyeni.
• Isifuba nesisu (`Isitho`).
• Endaweni yesisu.

Ngaphezu kwalokho, lawa ma-histiocyte amaningi angaqoqana futhi alimaze izicubu ezindaweni ezifana ne-spleen, isibindi, kanye nomnkantsha.

Ziyini izimbangela zalesi sifo?

Manje sesiyazi ukuthi i-ECD yisifo lapho ama-histiocyte anda khona ngokungalawuleki, asakazeke, futhi alimaze izicubu nezitho zomzimba ezinempilo. Kodwa-ke, ososayensi abakakazi kahle ukuthi kungani la maseli ekhula ngokungalawuleki. Kodwa-ke, ucwaningo lwamuva nje luthole ukuthi izinguquko ezithile zezakhi zofuzo zidlala indima.

Abantu abangaphezu kwengxenye abanesifo i-Erdheim-Chester (ECD) batholwe benoguquko ku-BRAF gene, okubangela ukuba ama-histiocyte akhule ngendlela engalawuleki.

Nakuba i-BRAF gene iyi-mutation evame kakhulu, ososayensi bathole ezinye izinguquko eziningana zezakhi zofuzo ezihlobene ne-ECD. Lokhu okutholiwe kuvumele ososayensi ukuthi bathuthukise izindlela zokwelapha eziqondisa kulezo zakhi zofuzo eziguquliwe futhi zimise ukukhula okungavamile kwama-histiocytes.

Lesi sifo sitholakala kanjani?

Ngenxa yokuthi i-ECD iyisifo esingavamile kakhulu futhi izimpawu ziyahlukahluka kumuntu nomuntu, odokotela bangase bangasoli ngokushesha lesi simo. Ngakho-ke, kungathatha isikhathi ukuthola ukuxilongwa . Kungase kudingeke ukuthi ubonane nodokotela abaningana.

Udokotela wakho uzocabangela izimpawu zakho kanye nemiphumela yokuhlolwa okuningana ukuze anqume ukuthi une-ECD yini. Nazi ezinye zezinto ezingakusiza ukuthi uxilonge:

• Izinqubo zokuthwebula izithombe: Ama-scan ahlukahlukene (ama-X-ray, ama-bone scan, ama-PET scan, ama-CT scan, ama-MRI) angasetshenziswa ukubona ukuthi la ma-histiocyte angene kuphi emzimbeni. Angabonisa futhi umonakalo ezicutshini ezithambile njengobuchopho, isifuba, kanye nezitho zesisu.
• Ukuhlolwa kwelebhu:Lezi zivivinyo zingabona izinkinga ezithile ngokusebenza kwezitho zomzimba (okungase kuhlobane ne-ECD), kanye nokuhlola izinto ezifana nokuvuvukala, ukungalingani kwenani lamaseli egazi, kanye nezinguquko emazingeni ama-hormone.
• I-Biopsy: I-biopsy ihilela ukuthatha isampula encane yezicubu ezithintekile bese uyihlola ngaphansi kwe-microscope. Amaseli abe esehlolwa izimpawu ze-ECD kanye nokuguqulwa kwezakhi zofuzo njenge-BRAF. Ukwazi izici zala maseli kungasiza udokotela wakho ukuthi anqume ukuthi yikuphi ukwelashwa okungcono kakhulu kuwe.

Yiziphi izindlela zokwelapha?

Uma ungenazo izimpawu futhi i-ECD yakho ingathinti impilo yakho, udokotela wakho angase anqume ukuqapha isimo sakho. Kodwa-ke, abantu abaningi abane-ECD bazodinga ukwelashwa . Nakuba kungekho ikhambi, kunezindlela eziningana zokwelapha ezingasiza ekuphatheni lesi simo.

Nazi izindlela zokwelapha eziyinhloko:

• Ukwelashwa okuqondiwe: Lokhu kuhilela ukusebenzisa imithi eqondisa ukuguqulwa kwezakhi zofuzo okubangela ukuba ama-histiocyte aphindaphindeke ngokungalawuleki. I-FDA igunyaze umuthi obizwa ngokuthi i-Vemurafenib weziguli ze-ECD ezine-BRAF gene mutation, kanye nomuthi obizwa ngokuthi i-Cobimetinib kulabo abane-MEK gene mutation. Kuye ngohlobo lokuguqulwa kwezakhi zofuzo emaseli akho, udokotela wakho angase ancome lezi noma ezinye izidakamizwa eziqondiwe noma inhlanganisela yemithi.
• Ukwelashwa Ngezifo Ezingalawuleki: Le mithi isiza amasosha omzimba wethu ukuthi aqaphele futhi alwe kangcono namaseli omdlavuza (kulokhu, ama-histiocyte angajwayelekile). I-Interferon-alpha iwumuthi ovame ukusetshenziswa kakhulu we-immunotherapy we-ECD.
• Ukwelashwa ngamakhemikhali: Ukwelashwa ngamakhemikhali kusebenzisa imithi ukubulala amangqamuzana omdlavuza (amangqamuzana angajwayelekile) emzimbeni wonke futhi kumise ukukhula kwezimila. Umuthi wamakhemikhali ovame kakhulu osetshenziswa kwi-ECD yi -cladribine . Kodwa-ke, udokotela wakho angase ancome eminye imithi yamakhemikhali noma inhlanganisela yemithi.

Ngaphezu kwalezi zindlela zokwelapha eziyinhloko, udokotela wakho angase ancome ezinye izindlela zokwelapha ezizosiza ekunciphiseni izimpawu zakho. Nakuba lezi zindlela zokwelapha zingeke zivimbele ama-histiocyte ekuhlaseleni izicubu zakho, zingasiza ekunciphiseni ukungakhululeki okuzwayo.

• Ukuhlinzwa: Kungadingeka ukuhlinzwa ukuze kulungiswe omunye umonakalo wezicubu obangelwa yi-ECD. Isibonelo, ukuvuvukala kanye nezicubu ezonakele kungavimba amapayipi athwala umchamo (ama-ureter). Uma lokhu kwenzeka, kungadingeka ukuhlinzwa ukuze kulungiswe.
• Ukwelashwa ngemisebe:Ukwelashwa ngemisebe kunganconywa ukuze kubhujiswe amaseli angajwayelekile endaweni ethile yomzimba futhi kuncishiswe izimpawu ezingajabulisi ezibangelwa yiwo.
• Ama-Corticosteroids: Le mithi inganciphisa ukuvuvukala okubangelwa ukungena kwama-histiocytes.

Ungase futhi ube nethuba lokubamba iqhaza esivivinyweni somtholampilo . Isivivinyo somtholampilo siwucwaningo oluhlola ukuphepha nokusebenza kahle kwezindlela zokwelapha ezintsha kanye nenhlanganisela entsha yokwelashwa. Buza udokotela wakho ukuthi ungabamba iqhaza yini esivivinyweni somtholampilo sesifo i-Erdheim-Chester (ECD).

Ingabe lokhu kungavinjelwa?

Ngeshwa, ayikho indlela yokuvimbela isifo i-Erdheim-Chester (ECD). Kodwa-ke, lesi sifo singalawulwa kakhulu ngokwelashwa.

Ungaphila isikhathi esingakanani nalesi sifo?

Ukubikezela kwakho kuncike ekutheni yiziphi izingxenye zomzimba wakho ezithintwa yi-histiocytes nokuthi usabela kanjani ekwelashweni. Kodwa-ke, ngokuthuthukiswa kwezindlela zokwelapha ezintsha, njengokwelashwa okuqondiwe, imiphumela yokusinda ehlotshaniswa ne-ECD manje isithuthuke kakhulu.

Cabanga nje, ngo-1996, izinga lokusinda kweminyaka emihlanu yeziguli ze-ECD lalingu-43% kuphela. Kodwa-ke, ngokusho kocwaningo lwamuva nje, lelo zinga selikhuphuke lafika ku-83%!

Khuluma nodokotela wakho ngenkambo yesikhathi esizayo yesifo sakho ngokusekelwe esimweni sakho kanye nendlela osabela ngayo ekwelashweni.

Kufanele ubonane nini nodokotela?

I-ECD idinga ukwelashwa okuqhubekayo nokuqapha . Udokotela wakho uzokweluleka ngokuthi kufanele ubonane kangaki nodokotela wakho, nokuthi kufanele yini uhlolwe igazi noma uhlolwe ama-scan.

Ukwelashwa okuningi kwe-ECD kungabangela imiphumela emibi engathandeki. Ngaphezu kwethimba lakho lokwelashwa kwe-ECD, ukuthola usizo eqenjini lokunakekelwa kobuhlungu kungakusiza ukuthi uphathe imiphumela emibi yalokhu kwelashwa futhi ubhekane nokucindezeleka okuhambisana nokuxilongwa.

Okokugcina, into ebaluleke kakhulu (Umyalezo Wokuya Ekhaya)

Isifo i-Erdheim-Chester (ECD) yisimo esithinta umuntu ngamunye ngendlela ehlukile, esibangelwa ukukhiqizwa ngokweqile kwama-histiocytes, okulimaza izicubu. Izimpawu zalesi sifo ziyahlukahluka kumuntu nomuntu. Lokhu kungathinta ulwazi lwakho lonke, kufaka phakathi ukwelashwa okutholakalayo.

Kodwa, ngenhlanhla, ngentuthuko yakamuva, ososayensi bakwazile ukuthola izindlela zokwelapha ezithuthukisa ukubikezela kwe-ECD.Khuluma nodokotela wakho ngokukhululekile ngezinketho zokwelapha ezifanele wena kanye nemiphumela ongayilindela, ngokusekelwe ezicini ezithile zesimo sakho. Khumbula, ngisho nakulesi simo esingavamile, ungaqhubeka uqine ngeseluleko sezokwelapha esifanele kanye nokusekelwa.

Isifo se - Erdheim-Chester, i-ECD, i-histiocytosis, izifo ezingavamile, ukuguquka kwezakhi zofuzo, i-BRAF, izimpawu, ukwelashwa