Icyo ukeneye kumenya kuri Rothmund-Thomson Syndrome (RTS)!

Ese uhangayikishijwe n'uruhu cyangwa umusatsi by'umwana wawe? Hari igihe ibi bimenyetso bishobora guterwa n'indwara idasanzwe. Imwe muri izo ndwara ni Rothmund-Thomson Syndrome , cyangwa (RTS) mu magambo ahinnye. Izina rishobora kumvikana nk'iry'urujijo, ariko reka tugire icyo duhindura kandi tworoshye kumva.

Indwara ya Rothmund-Thompson Syndrome (RTS) ni iki?

Mu magambo make, indwara ya Rothmund-Thompson ni indwara abana bamwe bavukana. Ni indwara iterwa n'imiterere y'uturemangingo. Ni ukuvuga ko iterwa n'impinduka muri kamwe mu turemangingo duto cyane mu mubiri wacu. Iyi ndwara ishobora kugira ingaruka ku bice byinshi by'umubiri w'umwana. Igira ingaruka cyane cyane ku ruhu, umusatsi, amenyo, amagufwa, amaso, n'uburumbuke. Hari igihe aba bana bagira impinduka mu bunini n'imiterere y'ibintu nk'amaboko, ibirenge, n'ibiganza.

Ni nde urwara iyi ndwara? Ni ku rugero rungana iki?

Indwara ya Rothmund-Thompson ni indwara y’uturemangingo ivuka mu muryango . Ibi bivuze ko iyo ababyeyi bombi bafite ihinduka ry’uturemangingo mu ngirabuzimafatizo runaka, umwana wabo ashobora kurwara iyo ndwara.

Ariko ntugahangayike, iyi ni indwara idasanzwe . Abantu bagera kuri 300 ni bo bonyine bagaragaye ku isi yose. Rero si ikintu kiba kuri buri wese.

Ese hari irindi zina ry'ibi? Yego, rimwe na rimwe byitwa `(poikiloderma congenitale)`.

Ni gute indwara ya Rothmund-Thompson izagira ingaruka ku mwana wanjye?

Iyi ndwara (RTS) ishobora gutera impinduka zimwe na zimwe mu mikurire n'imikurire y'umwana. Reka turebere hamwe ibiba ahanini:

• Uduheri ku ruhu: Uduheri dutukura dushobora kugaragara, cyane cyane ku matama.
• Gutakaza umusatsi cyangwa kugabanuka: Hashobora kubaho gutakaza umusatsi ku mutwe, ndetse no gutakaza amaso n'ingohe.
• Impinduka mu maso: Hari ibibazo bimwe na bimwe bishobora kubaho.
• Kumera amenyo bitinze: Kumera amenyo bishobora kumera nyuma y'abandi bana.
• Imiterere y'isura: Ushobora kubona ibintu nk'izuru rito n'umusaya wo hasi ugaragara.

Uburyo indwara ya Rothmund-Thompson igira ingaruka ku miterere y'umubiri

Iyi ndwara y’uturemangingo ishobora kugira ingaruka ku bantu mu buryo butandukanye. Ibi bivuze ko abantu bose batazagira ibimenyetso bimwe. Reka turebere hamwe uburyo igira ingaruka ku miterere itandukanye y’umubiri.

Uruhu

Abana bafite iyi ndwara bakunze kugira uduheri mu maso hagati y'amezi 3 na 6. Iyi duheri ishobora gukwirakwira mu maboko, amaguru, no mu matako. Iyi duheri yitwa kandi "poikiloderma." Ni uruvange rw'ibimenyetso nko guhindura ibara ry'uruhu, imiyoboro y'amaraso igaragara, no kunanuka k'uruhu.

Icy'ingenzi kurushaho, aba bana bafite ibyago byinshi byo kurwara kanseri y'uruhu (`Basal cell carcinoma` na `Squamous cell carcinoma`). Kubwibyo, kwirinda izuba no kugenzura uruhu buri gihe ni ingenzi cyane.

Umusatsi

Aba bana bashobora kuba bafite ubwoya buke cyane bwo ku mutwe. Bashobora kandi kugira amaso make cyangwa indorerwamo nke cyangwa ntazo.

Amenyo

Abana barwaye indwara ya Rothmund-Thompson syndrome bashobora gutakaza amenyo, kugira amenyo adakora neza, cyangwa kugira amenyo aza nyuma cyane. Nanone bafite ibyago byinshi byo kugira utwobo tw'amenyo. Kubwibyo, ni byiza ko muganga w'amenyo asuzuma amenyo yawe buri gihe.

Amaso

Abana bafite iyi ndwara ya genetiki baba bafite ibyago byinshi byo kurwara cataract, akenshi bari hagati y'imyaka 3 na 7. Cataract ni nk'igicu cy'indorerwamo y'amaso imbere mu jisho. Ibi bishobora gutuma umuntu atabona neza.

Amagufwa

Hashobora kubaho impinduka zimwe na zimwe mu magufwa. Amagufwa ashobora kuba mato kurusha uko bisanzwe, ashobora guhuzwa hamwe, cyangwa amagufwa amwe ashobora kuba abuze. Nanone, amagufwa aba mato kandi ashobora kuvunika byoroshye (kuvunika).

Uduce tw'igogora (Inda)

Abana bafite RTS bashobora kugira ibibazo byo kugaburira. Kuruka no gucibwamo nabyo ni ibisanzwe.

Uturemangingo tw'amaraso (Hematologic)

Aba bana bakunze kugira indwara nko kubura amaraso no kuba bake mu mubiri. Uturemangingo tw’amaraso ni ubwoko bw’uturemangingo mu mubiri wacu turwanya indwara.

Iterambere

Aba bana bashobora kuvuka bafite ibiro bike kandi bakaba bagufi. Abantu benshi barwaye indwara ya Rothmund-Thompson bashobora kuguma ari bagufi ugereranyije n'umuntu usanzwe mu buzima bwabo bwose.

Uburumbuke

Ku bagore, imihango idasanzwe ishobora kubaho.

Ni izihe ngorane ziterwa na syndrome ya Rothmund-Thompson?

Iki ni ikintu dukwiye kwitaho cyane. Abana barwaye (RTS) bafite ibyago byinshi byo kurwara ubwoko bumwe na bumwe bwa kanseri. Iby'ingenzi ni ibi bikurikira:

• Kanseri y'amagufwa (`Osteosarcoma`)
• Leukemia yo mu maraso, ubwoko bwa kanseri y'amaraso
• Lymphoma (kanseri y'urusobe rw'amaraso)
• Kanseri y'uruhu (`Basal cell carcinoma` na `Squamous cell carcinoma`)

Kubwibyo, ni ngombwa cyane ko aba bana bakorerwa isuzuma rya muganga buri gihe no kuba maso ku ndwara ya kanseri.

Ni iki gitera indwara ya Rothmund-Thompson?

Indwara ya Rothmund-Thompson iterwa n'impinduka mu turemangingo `ANAPC1` cyangwa `RECQL4`.Hari abantu bafite RTS bakura iyi mutation kuri ba nyina na ba se. Urugero, niba wowe n'umukunzi wawe mwembi mufite iyi mutation ya gene, umwana wawe afite amahirwe 1 kuri 4 yo kurwara RTS.

Ariko, si buri wese ufite RTS ufite iyi mihindagurikire yihariye y’uturemangingo. Abashakashatsi baracyakora iperereza ku mpamvu bamwe bakura RTS nta mihindagurikire ifite muri `ANAPC1` cyangwa `RECQL4`.

Ni ibihe bimenyetso by'indwara ya Rothmund-Thompson?

Ibimenyetso bya Rothmund-Thompson syndrome bikunze kugaragara mu mwaka wa mbere w'ubuzima. Ariko, ibimenyetso biratandukanye bitewe n'umuntu ku giti cye. Bimwe mu bimenyetso bisanzwe birimo:

• Indwara z'amaso
• Impinduka mu miterere y'isura (urugero: izuru rito, urwasaya rwo hasi rugaragara)
• Ibibazo byo kugaburira, cyane cyane kuruka cyangwa impiswi nyuma yo kunywa amata cyangwa amata y'ifu
• Ubusembwa bw'amagufwa y'amaboko, amaboko, cyangwa amaguru
• Amenyo mato, afite ishusho mbi, cyangwa yabuze
• Gutakaza umusatsi cyangwa kugabanuka k'ubwiyongere bw'umusatsi (harimo n'amaso n'amaso)
• Uduce duto kandi dukomeye ku ruhu (udusebe twa keratose - nk'ibigori)
• Uduheri ku ruhu (poikiloderma) ndetse n'uduheri dushobora kuba
• Impinduka mu ibara ry'uruhu (uduheri tw'uruhu ruhinduka ibara)

Ni gute abaganga basuzuma indwara ya Rothmund-Thompson?

Ushobora kubona ibi bimenyetso ku mwana wawe ubwawe. Cyangwa, muganga wawe ashobora kubibona mu gihe cyo gusura umwana wawe mu buryo busanzwe. Niba muganga wawe akeka ko afite RTS, azagutegeka ibizamini byinshi kugira ngo yemeze ko ari we wabibonye.

Ni ibihe bipimo bikoreshwa mu gusuzuma indwara (RTS)?

Muganga ashobora kukugira inama yo gupima indwara nka:

• Isuzuma ry'uruhu: Niba umwana wawe afite uduheri ku ruhu twitwa poikiloderma, muganga ashobora gufata icyitegererezo gito cy'uruhu akacyohereza kugira ngo gipimwe. Abaganga b'inzobere (abahanga mu ndwara) bazasuzuma iki cyitegererezo bakoresheje mikorosikopi kugira ngo barebe niba hari impinduka mu turemangingo tw'uruhu.
• Gupima imiterere y'uturemangingo: Iki ni ikizamini cy'amaraso. Gishobora kumenya niba hari impinduka mu turemangingo `ANAPC1` cyangwa `RECQL4`. Ibi bishobora kwemeza (RTS). Ariko ibuka ko atari buri mwana wese ufite (RTS) ufite iyi mpinduka mu turemangingo.

Indwara ya Rothmund-Thompson ivurwa ite?

Ikibabaje ni uko abaganga badashobora gukiza burundu indwara ya Rothmund-Thompson. Ariko bashobora kuvura ibimenyetso byayo. Uburyo bwo kuvura (RTS) buterwa n'ibimenyetso by'umwana wawe. Muganga wawe azakubwira uburyo bwo kuvura bushobora gufasha umwana wawe kugira ubuzima bwiza.

Bitewe n'ibimenyetso byihariye by'umwana wawe n'imyaka ye, abaganga bashobora kukugira inama yo kuvura indwara nk'izi:

• Kubaga ishaza ry'amaso kugira ngo byongere ubushobozi bwo kureba neza.
• Iyo hari amagufwa adasanzwe, ashobora kuvurwa hakoreshejwe uburyo bwihariye bwo kubaga amagufwa (`Orthopedic surgeries`) .
• Uburinzi ku zuba ryinshi(gukoresha amavuta yo kwisiga izuba, kwambara ingofero) no kugenzura uruhu rwawe buri gihe .
• Gusuzumisha amenyo kenshi no kuyavura mu buryo bwo kuyasubiza mu buzima bw'amenyo mu gihe bibaye ngombwa.
• Gukurikirana kanseri: Ibi bivuze kugenzura buri gihe ibimenyetso bya kanseri.

Ese hari uburyo bwo kuvura ibi hakoreshejwe ikoranabuhanga?

Kugeza ubu, nta buryo bwemewe bwo kuvura indwara ya Rothmund-Thompson, ariko abashakashatsi bakomeje gukora ubushakashatsi ku mpinduka mu ngirabuzimafatizo zijyanye na RTS.

Ese nshobora kubuza umwana wanjye gukura (RTS)?

Ikibabaje ni uko nta buryo bwo kwirinda indwara ya Rothmund-Thompson. Ni indwara iterwa n'uturemangingo. Hari abantu bashobora kuyirwara bitewe n'amateka y'umuryango. Hari n'igihe ishobora no kubaho ku mpamvu zitasobanuwe.

Namenya nte ko umwana wanjye ashobora kurwara indwara ya (RTS)?

Niba hari umuntu wo mu muryango wawe (cyangwa uwo mubana) ufite indwara ya Rothmund-Thompson syndrome, ni ngombwa cyane kubona inama ku bijyanye n'imiterere y'umubiri. Ibi bizagufasha kumenya byinshi ku byago byawe byo kubyara umwana ufite RTS. Wowe n'uwo mubana mwembi mushobora gupimwa amaraso kugira ngo barebe niba mufite iyi ndwara.

Tekereza ko mwembi mufite iyi mihindagurikire y’uturemangingo. Ibi ntibivuze ko umwana wawe azarwara RTS. Umwana wawe ashobora kuba ari umutwaro wa RTS (bivuze ko ashobora kwanduza abana be iyo gene nta bimenyetso afite), ariko birashoboka ko atazarwara.

Ni iki nkwiye kwitega mu gihe umwana wanjye afite (RTS)?

Abaganga bazakurikirana umwana wawe neza cyane (`surveillance`). Kubera ko abana barwaye (RTS) baba bafite ibyago byinshi byo kurwara kanseri zimwe na zimwe, muganga azagenzura buri gihe ibimenyetso by'izi kanseri.

Umwana wawe ashobora gukenera ubufasha bw'inzobere kugira ngo amenye bimwe mu bimenyetso bye bya RTS. Uretse kuba muganga w’abana usanzwe, ashobora kubonana n’inzobere mu by’amaso, abaganga b’uruhu, abaganga b’amenyo, abaganga b’amagufwa, abahanga mu by’uturemangingo, n’abaganga b’indwara z’amaraso/kanseri .

Umwana wanjye ufite indwara ya Rothmund-Thompson afite imyaka ingahe y'ubuzima?

Abana benshi barwaye indwara ya Rothmund-Thompson bafite ahazaza heza. Ubwenge bwabo nabwo ni ubusanzwe. Abantu barwaye kanseri (RTS) batarwara kanseri babaho ubuzima busanzwe.

Ni gute nakwita ku mwana wanjye ufite indwara ya Rothmund-Thompson?

Buri gihe ganira na muganga wawe ku bimenyetso by'umwana wawe. Muganga ashobora kukugira inama yo gushaka ubufasha ku bahanga.

Bibwire muganga wawe ako kanya niba ubonye utudomo dushya cyangwa ibibyimba ku ruhu rw'umwana wawe, cyane cyane niba bihinduye ibara cyangwa imiterere. Nanone, bwira muganga wawe niba ubonye ibibyimba cyangwa ibibyimba ku maboko cyangwa ku maguru y'umwana wawe, cyangwa niba umwana wawe yinubira ububabare.

Ubutumwa bwo kujyana mu rugo

Indwara ya Rothmund-Thompson ni indwara iterwa n’uturemangingo abana bamwe bavukana. Itera uduheri ku ruhu, impinduka mu musatsi, mu magufwa no mu menyo. Nanone yongera ibyago byo kurwara kanseri. (RTS) ntishobora gukira, ariko ibimenyetso biravurwa. Vugana na muganga wawe uburyo bwo gufasha umwana wawe kubaho ubuzima bwiza. Ntugahangayike, iyi ndwara ishobora gukemurwa n’inama n’ubuvuzi bikwiye.

Indwara ya Rothmund -Thomson, RTS, poikiloderma, indwara y’uturemangingo, uduheri tw’uruhu, gutakaza umusatsi, ibyago byo kurwara kanseri