Okudingeka ukwazi nge-Rothmund-Thomson Syndrome (RTS)!

Ingabe ukhathazekile ngokulahlekelwa yisikhumba noma izinwele zengane yakho? Ngezinye izikhathi, lezi zimpawu zingabangelwa yisimo esingavamile. Esinye salezo zimo yiRothmund -Thomson Syndrome , noma (RTS) ngamafuphi. Igama lingase lizwakale liyinkimbinkimbi kancane, kodwa masiligcine lilula futhi kulula ukuliqonda.

Iyini i-Rothmund-Thompson Syndrome (RTS)?

Kalula nje, i-Rothmund-Thompson syndrome yisimo esizalwa naso ezinye izingane. Yisimo sofuzo. Okusho ukuthi, sibangelwa ushintsho kwelinye lamajini amancane kakhulu emzimbeni wethu. Lesi simo singathinta izingxenye eziningana zomzimba wengane. Sithinta kakhulu isikhumba, izinwele, amazinyo, amathambo, amehlo, kanye nokuzala. Ngezinye izikhathi, lezi zingane ziba nezinguquko ngobukhulu kanye nesimo sezinto ezifana nezandla zazo, izinyawo, kanye nezintende zezandla.

Ubani othola lesi simo? Sivame kangakanani?

I-Rothmund-Thompson syndrome iyisifo sofuzo esizuzwe njengefa . Lokhu kusho ukuthi uma bobabili abazali benoguquko ku-gene ethile, ingane yabo cishe iyoba nalesi sifo.

Kodwa ungakhathazeki, lesi yisimo esingavamile kakhulu . Kubikwe amacala angaba ngu-300 emhlabeni jikelele. Ngakho akuyona into eyenzeka kuwo wonke umuntu.

Ingabe likhona elinye igama lalokhu? Yebo, ngezinye izikhathi libizwa nangokuthi `(poikiloderma congenitale)`.

I-Rothmund-Thompson syndrome izoyithinta kanjani ingane yami?

Lesi simo (i-RTS) singabangela izinguquko ezithile endleleni ingane ekhula futhi ikhula ngayo. Ake sibheke ukuthi kwenzekani kakhulu:

• Ukuqhuma kwesikhumba: Kungase kuvele ukuqhuma okubomvu, ikakhulukazi ezihlathini.
• Ukulahlekelwa izinwele noma ukuncipha: Kungase kube nokulahlekelwa izinwele ekhanda, kanye nokulahlekelwa izinkophe namashiya.
• Izinguquko zamehlo: Kungase kube nezinkinga ezithile zamehlo.
• Ukuhluma kwamazinyo okulibazisekile: Ukuhluma kwamazinyo kungase kwenzeke kamuva kunezinye izingane.
• Izici zobuso: Ungase ubone izici ezifana nekhala elincane kanye nomhlathi ongezansi ovele ngaphandle.

Indlela i-Rothmund-Thompson Syndrome ethinta ngayo izinhlelo zomzimba

Lesi simo sofuzo singathinta abantu ngezindlela eziningi ezahlukene. Lokhu kusho ukuthi akuwona wonke umuntu ozoba nezimpawu ezifanayo. Ake sibheke ukuthi sithinta kanjani izinhlelo ezahlukene zomzimba.

Isikhumba

Izingane ezinalesi simo zivame ukuba nokuqhuma ebusweni bazo phakathi kwezinyanga ezintathu neziyisithupha. Lokhu kuqubuka kungasakazeka kamuva ezingalweni, emilenzeni nasezinqeni. Lokhu kuqubuka kubizwa nangokuthi "i-poikiloderma." Kuyinhlanganisela yezimpawu ezifana nokushintsha kombala wesikhumba, imithambo yegazi ebonakalayo, kanye nokuncipha kwesikhumba.

Okubaluleke kakhulu, laba bantwana basengozini enkulu yokuba nomdlavuza wesikhumba (`i-basal cell carcinoma` kanye ne-`squamous cell carcinoma`). Ngakho-ke, ukuvikelwa elangeni kanye nokuhlolwa kwesikhumba njalo kubaluleke kakhulu.

Izinwele

Lezi zingane zingase zibe nezinwele ezincane kakhulu zekhanda. Zingase zibe nezinkophe noma amashiya ambalwa kakhulu noma zingabi nazo nhlobo.

Amazinyo

Izingane ezine-Rothmund-Thompson syndrome zingase zilahlekelwe amazinyo, zibe namazinyo angasebenzi kahle, noma zibe namazinyo afika sekwephuzile kakhulu. Zisengozini enkulu yokuba nezimbobo zamazinyo. Ngakho-ke, kuwumqondo omuhle ukuthi amazinyo akho ahlolwe njalo ngudokotela wamazinyo.

Amehlo

Izingane ezinalesi simo sofuzo zisengozini enkulu yokuthola ama-cataract, ngokuvamile ziphakathi kweminyaka emi-3 nengu-7. Ama-cataract ayi-clouding yelensi ngaphakathi kweso. Lokhu kungaholela ekulahlekelweni umbono.

Amathambo

Kungase kube nezinguquko ezithile emathanjeni. Amathambo angase abe mancane kunokujwayelekile, angase ahlanganiswe ndawonye, ​​noma amanye amathambo angase angabi khona. Futhi, amathambo mancane futhi angaphuka kalula (ukuqhekeka).

Uhlelo lokugaya ukudla (Isisu)

Izingane ezine-RTS zingase zibe nobunzima bokudla. Ukuhlanza kanye nesifo sohudo nakho kuvamile.

Uhlelo lwegazi (i-Hematologic)

Lezi zingane zivame ukuba nezimo ezifana ne-anemia kanye nokubalwa kwamangqamuzana amhlophe egazi aphansi. Amaseli amhlophe egazi awuhlobo lweseli emzimbeni wethu elilwa nezifo.

Ukukhula

Lezi zingane zingase zizalwe zinesisindo esincane kanye nobude obufushane. Abantu abaningi abane-Rothmund-Thompson syndrome cishe bazohlala bebafushane kunesilinganiso kukho konke ukuphila kwabo.

Ukuzala

Kwabesifazane, ukuya esikhathini okungavamile kungenzeka.

Yiziphi izinkinga ze-Rothmund-Thompson syndrome?

Lokhu kuyinto okufanele sikhathazeke kakhulu ngayo. Izingane ezine-(RTS) zisengozini enkulu yokuthola izinhlobo ezithile zomdlavuza. Eziyinhloko yilezi:

• Umdlavuza wamathambo (`Osteosarcoma`)
• I-lymphatic leukemia, uhlobo lomdlavuza wegazi
• I-Lymphoma (umdlavuza wesistimu ye-lymphatic)
• Umdlavuza wesikhumba (`i-basal cell carcinoma` kanye ne-`Squamous cell carcinoma`)

Ngakho-ke, kubaluleke kakhulu ukuthi lezi zingane zihlolwe njalo futhi ziqaphele umdlavuza.

Yini ebangela i-Rothmund-Thompson syndrome?

I-Rothmund-Thompson syndrome ibangelwa ukuguquka kwezakhi zofuzo `ANAPC1` noma `RECQL4`.Abanye abantu abane-RTS bazuza lolu guquko kunina nakuyise. Isibonelo, uma wena nomlingani wakho nobabili ningabathwali balolu guquko lwezakhi zofuzo, ingane yakho inethuba elilodwa kwamane lokuthuthukisa i-RTS.

Kodwa-ke, akuwona wonke umuntu one-RTS onalolu shintsho oluthile lwezakhi zofuzo. Abacwaningi basaphenya ukuthi kungani abanye abantu bethuthukisa i-RTS ngaphandle kokuba noguquko ku-'ANAPC1` noma `RECQL4`.

Ziyini izimpawu ze-Rothmund-Thompson syndrome?

Izimpawu ze-Rothmund-Thompson syndrome zivame ukuvela phakathi nonyaka wokuqala wokuphila. Kodwa-ke, izimpawu ziyahlukahluka kumuntu nomuntu. Ezinye izimpawu ezivamile zifaka:

• Ama-cataract
• Izinguquko ezicini zobuso (isib., impumulo encane, umhlathi ongezansi ophumayo)
• Izinkinga zokudla, ikakhulukazi ukuhlanza noma uhudo ngemva kokuphuza ubisi noma ubisi lwebhodlela
• Ukukhubazeka kwamathambo ezingalo, izandla, noma imilenze
• Amazinyo amancane, aguqukile, noma angekho
• Ukulahlekelwa izinwele noma ukukhula kwezinwele okunciphile (kufaka phakathi izinkophe namashiya)
• Amabala aqinile, aqinile esikhumbeni (izilonda ze-keratotic - njenge-corns)
• Ukuqubuka kwesikhumba (i-poikiloderma) kanye nama-blister okungenzeka
• Izinguquko zombala wesikhumba (amabala okushintsha kombala wesikhumba)

Odokotela bayixilonga kanjani i-Rothmund-Thompson syndrome?

Ungase uzibone lezi zimpawu enganeni yakho. Noma, udokotela wakho angase azibone lezi zimpawu ngesikhathi sokuvakasha okujwayelekile komntwana ophilile. Uma udokotela wakho esola i-RTS, uzoyala ukuhlolwa okuningana ukuqinisekisa ukuxilongwa.

Yiziphi izivivinyo ezisetshenziswa ukuxilonga (RTS)?

Udokotela angase ancome ukuhlolwa okufana nalokhu:

• Ukuhlolwa kwesikhumba: Uma ingane yakho inomqubuko wesikhumba obizwa ngokuthi i-poikiloderma, udokotela angathatha isampula encane yesikhumba ayithumele ukuze iyohlolwa. Odokotela abangochwepheshe (odokotela bezifo) bazohlola lesi sampula ngaphansi kwe-microscope ukuze babone ukuthi kukhona yini izinguquko emaseli esikhumba.
• Ukuhlolwa kwezakhi zofuzo: Lokhu ukuhlolwa kwegazi. Kungabona ukuthi kukhona yini ukuguquka kwezakhi zofuzo `ANAPC1` noma `RECQL4`. Lokhu kungaqinisekisa (RTS). Kodwa khumbula, akuwona wonke umntwana one-(RTS) onalolu guquko lwezakhi zofuzo.

Iphathwa kanjani i-Rothmund-Thompson syndrome?

Ngeshwa, odokotela abakwazi ukwelapha ngokuphelele i-Rothmund-Thompson syndrome. Kodwa bangayilapha izimpawu. Ukwelashwa kwe-(RTS) kuncike ezimpawini zengane yakho. Udokotela wakho uzokhuluma nawe ngezokwelapha ezingasiza ukugcina ingane yakho iphilile.

Kuye ngezimpawu ezithile zengane yakho kanye nobudala bayo, odokotela bangase batuse ukwelashwa okufana nalokhu:

• Ukuhlinzwa kwe-cataract ukuthuthukisa umbono.
• Uma kukhona amathambo angajwayelekile, angelashwa ngokuhlinzwa kwamathambo okukhethekile (`ukuhlinzwa kwamathambo`) .
• Ukuvikelwa elangeni elinamandla(ukusebenzisa i-sunscreen, ukugqoka izigqoko) nokuhlola isikhumba sakho njalo .
• Ukuhlolwa kwamazinyo njalo kanye nokwelashwa kwamazinyo okuvuselela uma kudingeka.
• Ukuqapha umdlavuza: Lokhu kusho ukuhlola njalo izimpawu zomdlavuza.

Ingabe kukhona ukwelashwa kwezakhi zofuzo kwalokhu?

Okwamanje, akukho ukwelashwa kwezakhi zofuzo okuvunyelwe kwe-Rothmund-Thompson syndrome, kodwa abacwaningi bayaqhubeka nokuphenya ngokuguqulwa kwezakhi zofuzo okuhlobene ne-RTS.

Ngingavimbela yini ingane yami ukuthi ikhule (RTS)?

Ngeshwa, ayikho indlela yokuvimbela i-Rothmund-Thompson syndrome. Kuyisifo esibangelwa ufuzo. Abanye abantu bangase babe naso ngenxa yomlando womndeni. Ngezinye izikhathi singase senzeke nangezizathu ezingachazeki.

Ngingazi kanjani ukuthi ingane yami isengozini yokukhula (RTS)?

Uma othile emndenini wakho (noma emndenini womlingani wakho) ene-Rothmund-Thompson syndrome, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo. Lokhu kuzokusiza ufunde kabanzi ngengozi yakho yokuba nengane ene-RTS. Wena nomlingani wakho nobabili ningahlolwa igazi ukuze kubonakale ukuthi ningabathwali balolu shintsho lofuzo.

Ake sithi nobabili ninayo le nguquko yezakhi zofuzo. Lokhu akusho ukuthi ingane yakho izoba ne-RTS nakanjani. Ingane yakho ingaba ngumthwali we-RTS (okusho ukuthi ingadlulisela isakhi sofuzo kubantwana bayo ngaphandle kokuba nezimpawu), kodwa kungenzeka futhi ukuthi ngeke ibe nezimpawu.

Yini okufanele ngiyilindele uma ingane yami ine-(RTS)?

Odokotela bazoqapha ingane yakho ngokucophelela (`ukuqapha`). Ngenxa yokuthi izingane ezine-(RTS) zisengozini enkulu yokuthola umdlavuza othile, udokotela uzohlola njalo izimpawu zalo mdlavuza.

Ingane yakho ingadinga usizo kochwepheshe ukuze iphathe ezinye zezimpawu zayo ze-RTS. Ngaphezu kodokotela wezingane ojwayelekile, ingabonana nodokotela wamehlo, udokotela wesikhumba, udokotela wamazinyo, udokotela wamathambo, isazi sezakhi zofuzo, kanye nodokotela wegazi/umdlavuza .

Ingakanani iminyaka yokuphila yengane yami ene-Rothmund-Thompson syndrome?

Iningi lezingane ezine-Rothmund-Thompson syndrome linekusasa elihle. Ukuhlakanipha kwazo nakho kujwayelekile. Abantu abane-(RTS) abangatholi umdlavuza baphila isikhathi esijwayelekile sokuphila.

Ngingayinakekela kanjani ingane yami ene-Rothmund-Thompson syndrome?

Khuluma nodokotela wakho njalo ngezimpawu zengane yakho. Udokotela angase akuncome ukuthi ucele usizo kochwepheshe.

Tshela udokotela wakho ngokushesha uma ubona noma yimaphi amabala noma izigaxa ezintsha esikhumbeni sengane yakho, ikakhulukazi uma zishintsha umbala noma ukuthungwa. Futhi, tshela udokotela wakho uma ubona noma yikuphi ukuvuvukala noma izigaxa ezingalweni noma emilenzeni yengane yakho, noma uma ingane yakho ikhala ngobuhlungu.

Umlayezo Wokuya Nawe Ekhaya

I-Rothmund-Thompson syndrome yisimo sofuzo esibangelwa ufuzo ezinye izingane ezizalwa naso. Sibangela ukuqubuka kwesikhumba, ukushintsha kwezinwele, amathambo kanye namazinyo. Siphinde sandise ingozi yomdlavuza. (RTS) ayinakwelashwa, kodwa izimpawu zingelashwa. Khuluma nodokotela wakho ngezindlela zokusiza ingane yakho iphile impilo enempilo. Ungakhathazeki, lesi simo singaphathwa ngeseluleko nokunakekelwa okufanele kwezokwelapha.

I- Rothmund-Thomson Syndrome, i-RTS, i-poikiloderma, ukuphazamiseka kwezakhi zofuzo, ukuqubuka kwesikhumba, ukulahlekelwa izinwele, ingozi yomdlavuza