Oko kufuneka ukwazi ngeRothmund-Thomson Syndrome (RTS)!

Ngaba ukhathazekile ngokulahleka kwesikhumba okanye iinwele zomntwana wakho? Ngamanye amaxesha, ezi mpawu zinokubangelwa yimeko engaqhelekanga. Enye yezi meko yiRothmund -Thomson Syndrome , okanye (RTS) ngamafutshane. Igama lisenokuvakala liyinkimbinkimbi kancinci, kodwa masiligcine lilula kwaye kulula ukuliqonda.

Yintoni iRothmund-Thompson Syndrome (RTS)?

Ngamafutshane, i-Rothmund-Thompson syndrome yimeko ezalwa nayo ezinye iintsana. Yimeko yemfuza. Oko kukuthi, ibangelwa kukutshintsha kwenye yezona jini zincinci emzimbeni wethu. Le meko inokuchaphazela iindawo ezininzi zomzimba womntwana. Ichaphazela kakhulu ulusu, iinwele, amazinyo, amathambo, amehlo, kunye nokuzala. Ngamanye amaxesha, aba bantwana banotshintsho kubungakanani kunye nokuma kwezinto ezifana nezandla zabo, iinyawo, kunye neentende.

Ngubani ofumana le meko? Ixhaphake kangakanani?

Isifo sikaRothmund-Thompson sisifo semfuza esizuzwe njengelifa . Oku kuthetha ukuba ukuba bobabini abazali banotshintsho kwimfuza ethile, umntwana wabo unokuba naso.

Kodwa ungakhathazeki, le yimeko engaqhelekanga kakhulu . Kuphela ziimeko ezingama-300 ezibikiweyo kwihlabathi liphela. Ngoko ke asiyonto yenzekayo kuye wonke umntu.

Ngaba likho elinye igama lale nto? Ewe, ngamanye amaxesha ikwabizwa ngokuba yi-`(poikiloderma congenitale)`.

Isifo sikaRothmund-Thompson siza kumchaphazela njani umntwana wam?

Le meko (RTS) inokubangela utshintsho kwindlela umntwana akhula nakhula ngayo. Makhe sijonge ukuba yintoni eyenzekayo kakhulu:

• Ulusu olunezihlunu: Ulusu olunezihlunu ezibomvu lunokuvela, ingakumbi ezidleleni.
• Ukulahleka okanye ukuncitshiswa kweenwele: Kusenokubakho ukulahleka kweenwele entlokweni, kunye nokulahlekelwa ziinkophe kunye namashiya.
• Utshintsho lwamehlo: Kunokubakho iingxaki zamehlo ezithile.
• Ukulibaziseka kokuqaqanjelwa kwamazinyo: Ukuqaqanjelwa kwamazinyo kusenokwenzeka emva kwexesha kunabanye abantwana.
• Iimpawu zobuso: Ungabona iimpawu ezifana nempumlo encinci kunye nomhlathi ongezantsi ovele ngaphandle.

Indlela iRothmund-Thompson Syndrome echaphazela ngayo iinkqubo zomzimba

Le meko yemfuza inokuchaphazela abantu ngeendlela ezahlukeneyo. Oku kuthetha ukuba ayinguye wonke umntu oza kuba neempawu ezifanayo. Makhe sijonge indlela echaphazela ngayo iinkqubo ezahlukeneyo zomzimba.

Ulusu

Iintsana ezinale meko zihlala zikhula zibe nerhashalala ebusweni bazo phakathi kweenyanga ezi-3 nezi-6 ubudala. Olu rhashalala lunokusasaza kamva kwiingalo, emilenzeni, nasezimpundu. Olu rhashalala lukwabizwa ngokuba yi-"poikiloderma." Ludibaniso lweempawu ezifana nokutshintsha kombala wolusu, imithambo yegazi ebonakalayo, kunye nokuncitshiswa kolusu.

Okubaluleke kakhulu kukuba, aba bantwana basengozini enkulu yokuba nomhlaza wolusu (`i-Basal cell carcinoma` kunye ne-`Squamous cell carcinoma`). Ngoko ke, ukukhuselwa elangeni kunye nokuhlolwa rhoqo kolusu kubaluleke kakhulu.

Iinwele

Aba bantwana basenokuba neenwele ezimfutshane kakhulu entlokweni. Basenokuba neenkophe okanye amashiya ambalwa kakhulu okanye bangabi nazo kwaphela.

Amazinyo

Abantwana abane-Rothmund-Thompson syndrome banokuphulukana namazinyo, babe namazinyo angasebenzi kakuhle, okanye babe namazinyo aphuma emva kwexesha. Bakwasengozini enkulu yokuba nemingxuma yamazinyo. Ke ngoko, licebo elihle ukuba amazinyo akho ahlolwe rhoqo ngugqirha wamazinyo.

Amehlo

Abantwana abanale meko yemfuza basengozini enkulu yokuba ne-cataracts, ngokuqhelekileyo phakathi kweminyaka emi-3 ne-7 ubudala. Ii-cataracts zizinto ezifiphalisa ilensi ngaphakathi kweliso. Oku kunokukhokelela ekulahlekelweni kokubona.

Amathambo

Kusenokubakho utshintsho oluthile emathanjeni. Amathambo asenokuba mancinci kunesiqhelo, asenokudibaniswa kunye, okanye amanye amathambo angabikho. Kwakhona, amathambo abhityile kwaye anokwaphuka lula (ukuqhekeka).

Inkqubo yokugaya ukutya (Isisu)

Iintsana ezine-RTS zinokuba nobunzima bokutya. Ukugabha kunye norhudo nazo zixhaphakile.

Inkqubo yegazi (iHematologic)

Aba bantwana badla ngokuba neemeko ezifana ne-anemia kunye nokubalwa kweeseli ezimhlophe ezisezantsi egazini. Iiseli ezimhlophe zegazi luhlobo lweseli emizimbeni yethu elwa nezifo.

Ukukhula

Aba bantwana banokuzalwa benobunzima obuphantsi kwaye bemfutshane. Abantu abaninzi abane-Rothmund-Thompson syndrome banokuthi bahlale bebafutshane kunomntu oqhelekileyo ubomi babo bonke.

Ukuchuma

Kwabasetyhini, ukuba sexesheni okungaqhelekanga kunokwenzeka.

Ziziphi iingxaki zesifo sikaRothmund-Thompson?

Le yinto esifanele siyixhalabele kakhulu. Abantwana abane-(RTS) basengozini enkulu yokuhlaselwa ziintlobo ezithile zomhlaza. Ezona ziphambili zezi:

• Umhlaza wamathambo (`Osteosarcoma`)
• I-lymphatic leukemia, uhlobo lomhlaza wegazi
• I-Lymphoma (umhlaza wenkqubo ye-lymphatic)
• Umhlaza wolusu (`i-basal cell carcinoma` kunye ne-`Squamous cell carcinoma`)

Ngoko ke, kubaluleke kakhulu ukuba aba bantwana bahlolwe rhoqo kwaye baqaphele umhlaza.

Yintoni ebangela iRothmund-Thompson syndrome?

Isifo sikaRothmund-Thompson sibangelwa kukuguquka kwezakhi zofuzo `ANAPC1` okanye `RECQL4`.Abanye abantu abane-RTS bazuza olu tshintsho kumama notata wabo. Umzekelo, ukuba wena neqabane lakho nobabini ningabathwali bolu tshintsho lwezakhi zofuzo, umntwana wakho unethuba eli-1 kwabane lokuphuhlisa i-RTS.

Nangona kunjalo, ayinguye wonke umntu one-RTS onayo le nguqu yezakhi zofuzo. Abaphandi basaphanda ukuba kutheni abanye abantu bevelisa i-RTS ngaphandle kotshintsho kwizakhi zofuzo ze-'ANAPC1` okanye ze-`RECQL4`.

Zithini iimpawu zesifo sikaRothmund-Thompson?

Iimpawu zesifo sikaRothmund-Thompson zihlala zibonakala kunyaka wokuqala wobomi. Nangona kunjalo, iimpawu ziyahluka kumntu nomntu. Ezinye iimpawu eziqhelekileyo ziquka:

• IiCataracts
• Utshintsho kwiimpawu zobuso (umz., impumlo encinci, umhlathi ongezantsi ophumayo)
• Iingxaki zokutya, ingakumbi ukuhlanza okanye urhudo emva kokusela ubisi okanye ubisi oluyifomyula
• Ukukhubazeka kwamathambo eengalo, izandla, okanye imilenze
• Amazinyo amancinci, amile kakubi, okanye angekhoyo
• Ukulahleka kweenwele okanye ukukhula kweenwele okunciphileyo (kuquka iinkophe kunye namashiya)
• Amabala aqinileyo, arhabaxa eluswini (izilonda ezibangelwa yi-keratotic - ezifana neenkozo)
• Ukurhawuzelela kolusu (i-poikiloderma) kwaye mhlawumbi namadyungudyungu
• Utshintsho kwibala lolusu (amabala okutshintsha kombala wolusu)

Oogqirha bayixilonga njani iRothmund-Thompson syndrome?

Usenokuzibona ezi mpawu kumntwana wakho. Okanye, ugqirha wakho unokuzibona ezi mpawu ngexesha lotyelelo oluqhelekileyo lomntwana osempilweni. Ukuba ugqirha wakho urhanela i-RTS, uya kuyalela iimvavanyo ezininzi ukuqinisekisa ukuxilongwa.

Zeziphi iimvavanyo ezisetyenziselwa ukuxilonga (RTS)?

Ugqirha angacebisa iimvavanyo ezifana nezi:

• I-biopsy yolusu: Ukuba umntwana wakho unerhashalala yolusu ebizwa ngokuba yi-poikiloderma, ugqirha angathatha isampuli encinci yolusu aze ayithumele ukuba iye kuvavanywa. Oogqirha abaziingcali (iingcali zezifo) baza kuhlola le sampuli phantsi kwe-microscope ukubona ukuba kukho naluphi na utshintsho kwiiseli zolusu.
• Uvavanyo lwemfuza: Olu luvavanyo lwegazi. Lunokufumanisa ukuba kukho utshintsho kwimfuza `ANAPC1` okanye `RECQL4`. Oku kunokuqinisekisa (RTS). Kodwa khumbula, ayinguye wonke umntwana one (RTS) onalo tshintsho lwemfuza.

Inyangwa njani iRothmund-Thompson syndrome?

Ngelishwa, oogqirha abanakukwazi ukunyanga ngokupheleleyo isifo sikaRothmund-Thompson. Kodwa banokuyinyanga le mpawu. Unyango lwe (RTS) luxhomekeke kwiimpawu zomntwana wakho. Ugqirha wakho uza kuthetha nawe malunga nonyango olunokunceda umntwana wakho ahlale esempilweni.

Ngokuxhomekeke kwiimpawu ezithile zomntwana wakho kunye nobudala bakhe, oogqirha banokucebisa unyango olufana nolu:

• Utyando lwe-cataract ukuphucula umbono.
• Ukuba kukho amathambo angaqhelekanga, anokunyangwa ngotyando olulodwa lwamathambo (`utyando lwamathambo`) .
• Ukhuseleko elangeni elinamandla(usebenzisa i-sunscreen, unxibe iminqwazi) kwaye ujonge ulusu lwakho rhoqo .
• Ukuhlolwa rhoqo kwamazinyo kunye nonyango lokubuyisela amazinyo kwimeko yawo ukuba kuyimfuneko.
• Ukubeka iliso kumhlaza: Oku kuthetha ukujonga rhoqo iimpawu zomhlaza.

Ngaba ikhona indlela yonyango lwemfuza yoku?

Okwangoku, akukho nyango lwezakhi zofuzo oluvunyiweyo lwe-Rothmund-Thompson syndrome, kodwa abaphandi bayaqhubeka nokuphanda utshintsho lwezakhi zofuzo oluhambelana ne-RTS.

Ndingamthintela umntwana wam ekukhuleni (RTS)?

Ngelishwa, akukho ndlela yokuthintela i-Rothmund-Thompson syndrome. Yimeko yemfuza. Abanye abantu banokuyihlakulela ngenxa yembali yosapho. Ngamanye amaxesha inokwenzeka nangezizathu ezingachazwanga.

Ndingazi njani ukuba umntwana wam usemngciphekweni wokukhula (i-RTS)?

Ukuba kukho umntu kusapho lwakho (okanye kusapho lweqabane lakho) one-Rothmund-Thompson syndrome, kubaluleke kakhulu ukufumana ingcebiso nge-genetic. Oku kuya kukunceda ufunde ngakumbi malunga nomngcipheko wokuba nomntwana one-RTS. Wena neqabane lakho nobabini ningenza uvavanyo lwegazi ukuze kubonwe ukuba ningabathwali bolu tshintsho lwe-gene.

Khawucinge ukuba nobabini ninolu tshintsho lwezakhi zofuzo. Oku akuthethi ukuba umntwana wakho ngokuqinisekileyo uza kuba ne-RTS. Umntwana wakho usenokuba ngumthwali we-RTS (oko kuthetha ukuba angadlulisela esi sakhi sofuzo kubantwana bakhe ngaphandle kokuba neempawu), kodwa kusenokwenzeka ukuba angabi nazimpawu.

Yintoni endimele ndiyilindele ukuba umntwana wam une-(RTS)?

Oogqirha baya kumjonga umntwana wakho ngononophelo olukhulu (`ukubekwa esweni`). Ngenxa yokuba abantwana abane-(RTS) basengozini enkulu yokuhlaselwa yimidlaza ethile, ugqirha uya kujonga rhoqo iimpawu zale midlaza.

Umntwana wakho usenokufuna uncedo kwiingcali ukulawula ezinye zeempawu zakhe ze-RTS. Ukongeza kugqirha wezingane oqhelekileyo, unokubonana nogqirha wamehlo, ugqirha wesikhumba, ugqirha wamazinyo, ugqirha wamathambo, ingcali yemfuza, kunye nogqirha wegazi/umhlaza .

Ingakanani iminyaka yobomi bomntwana wam one-Rothmund-Thompson syndrome?

Uninzi lwabantwana abane-Rothmund-Thompson syndrome banekamva elihle. Ubukrelekrele babo buqhelekile. Abantu abane-(RTS) abangafumani mhlaza baphila ubomi obuqhelekileyo.

Ndingamnyamekela njani umntwana wam one-Rothmund-Thompson syndrome?

Soloko uthetha nogqirha wakho malunga neempawu zomntwana wakho. Ugqirha unokucebisa ukuba ufune uncedo kwiingcali.

Xelela ugqirha wakho ngoko nangoko ukuba ubona amabala okanye amaqhuma amatsha eluswini lomntwana wakho, ingakumbi ukuba atshintsha umbala okanye ubume bawo. Kwakhona, xelela ugqirha wakho ukuba ubona ukudumba okanye amaqhuma ezingalweni okanye emilenzeni yomntwana wakho, okanye ukuba umntwana wakho ukhalaza ngentlungu.

Umyalezo Wokuya Ekhaya

I-Rothmund-Thompson syndrome yimeko yemfuza ezalwa nayo ezinye iintsana. Ibangela ukurhawuzelela kwesikhumba, utshintsho lweenwele, amathambo kunye namazinyo. Ikwanyusa umngcipheko womhlaza. (RTS) ayinakunyangwa, kodwa iimpawu zinokunyangwa. Thetha nogqirha wakho ngeendlela zokunceda umntwana wakho aphile ubomi obusempilweni. Ungakhathazeki, le meko inokulawulwa ngeengcebiso zonyango ezifanelekileyo kunye nokhathalelo.

Isifo sikaRothmund -Thomson, i-RTS, i-poikiloderma, isifo semfuza, ukurhawuzelela kolusu, ukulahleka kweenwele, umngcipheko womhlaza