Zvaunofanira kuziva nezve Rothmund-Thomson Syndrome (RTS)!

Unonetseka here nezvekudonha kweganda kana bvudzi remwana wako? Dzimwe nguva, zviratidzo izvi zvinogona kukonzerwa nechirwere chisingawanzoitiki. Chimwe chezvirwere zvakadaro iRothmund -Thomson Syndrome , kana kuti (RTS) muchidimbu. Zita racho ringanzwika serakaoma, asi ngatirichengete riri nyore uye riri nyore kunzwisisa.

Chii chinonzi Rothmund-Thompson Syndrome (RTS)?

Zvichitaurwa zviri nyore, chirwere cheRothmund-Thompson chirwere chinoberekwa nevamwe vana. Idambudziko remajini. Kureva kuti, rinokonzerwa nekuchinja kwemajini madiki mumuviri wedu. Dambudziko iri rinogona kukanganisa nhengo dzinoverengeka dzemuviri wemwana. Rinonyanya kukanganisa ganda, bvudzi, mazino, mapfupa, maziso, uye kubereka. Dzimwe nguva, vana ava vanochinja saizi nechimiro chezvinhu zvakaita semaoko avo, tsoka, uye zvanza.

Ndiani anowana chirwere ichi? Chinowanzoitika sei?

Rothmund-Thompson syndrome chirwere chinoberekwa nhaka . Izvi zvinoreva kuti kana vabereki vese vaine shanduko mune rimwe jini, mwana wavo anogona kunge aine chirwere ichi.

Asi musazvidya moyo, ichi chirwere chisingawanzoitiki . Vanhu vanosvika mazana matatu chete ndivo vakabatwa nechirwere ichi pasi rose. Saka hachisi chinhu chinoitika kune wese munhu.

Pane rimwe zita reizvi here? Ehe, dzimwe nguva zvinonziwo (poikiloderma congenitale).

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Rothmund-Thompson syndrome ichaita sei kuti mwana wangu anzwe akasununguka?

Chirwere ichi (RTS) chinogona kukonzera shanduko munzira iyo mwana anokura uye anokura nayo. Ngatitarisei zvinonyanya kuitika:

• Mapundu paganda: Mapundu matsvuku anogona kuonekwa, kunyanya pamatama.
• Kupera kana kutetepa kwebvudzi: Panogona kunge paine kurasikirwa nebvudzi mumusoro, pamwe nekurasikirwa netsiye nemaziso.
• Kuchinja kwemaziso: Mamwe matambudziko emaziso anogona kuitika.
• Kunonoka kubuda kwemeno: Kubuda kwemeno kunogona kuitika mushure menguva yekuzvitakura kupfuura vamwe vana.
• Zvimiro zvechiso: Unogona kuona zvinhu zvakaita semhuno diki neshaya yepazasi inobuda.

Kukanganisa Kunoita Rothmund-Thompson Syndrome Masisitimu Emuviri

Chirwere ichi chemajini chinogona kukanganisa vanhu nenzira dzakasiyana-siyana. Izvi zvinoreva kuti havasi vese vanozosangana nezviratidzo zvakafanana. Ngatitarisei kuti chinokanganisa sei masisitimu akasiyana emuviri.

Ganda

Vacheche vane chirwere ichi vanowanzova nemapundu pachiso chavo vari pakati pemwedzi mitatu netanhatu. Mapundu aya anogona kuzopararira mumaoko, makumbo, nemagaro. Mapundu aya anonziwo "poikiloderma." Izvi zvinosanganisa zviratidzo zvakaita sekushata kweganda, mitsipa yeropa inoonekwa, uye kutetepa kweganda.

Chinonyanya kukosha ndechekuti vana ava vari panjodzi yakakura yekubatwa nekenza yeganda (Basal cell carcinoma uye Squamous cell carcinoma). Saka, kudzivirira zuva uye kuongororwa ganda nguva dzose kwakakosha zvikuru.

Vhudzi

Vana ava vanogona kunge vaine bvudzi remusoro risina kusimba. Vanogonawo kunge vaine tsiye kana tsiye shoma kana kuti vasina.

Mazino

Vana vane Rothmund-Thompson syndrome vanogona kurasikirwa nemazino, kuva nemazino asina kunaka, kana kuva nemazino anouya kunonoka. Vari panjodzi huru yekuva nemazino maburi. Saka, zvakanaka kuti mazino ako aongororwe nguva nenguva nachiremba wemazino.

Maziso

Vana vane chirwere ichi chemajini vari panjodzi yakakura yekubatwa nekatarakita, kazhinji vari pakati pemakore matatu nemanomwe. Katarakita inyaya yekuvharika kwelenzi mukati meziso. Izvi zvinogona kukonzera kurasikirwa nekuona.

Mapfupa

Panogonawo kunge paine shanduko mumapfupa. Mapfupa anogona kunge ari madiki pane zvakajairika, anogona kunge akabatana pamwe chete, kana kuti mamwe mapfupa anogona kunge asipo. Uyewo, mapfupa acho akatetepa uye anogona kutyoka nyore nyore (kutyoka).

Sisitimu yekugaya chikafu (yemudumbu)

Vacheche vane RTS vanogona kunge vaine matambudziko ekudya. Kurutsa uye manyoka zvinowanzoitikawo.

Sisitimu yeropa (Hematologic)

Vana ava vanowanzova nezvirwere zvakaita sekushaya ropa uye masero machena mashoma eropa. Masero machena eropa rudzi rwemasero mumuviri wedu anorwisa zvirwere.

Kukura

Vana ava vanogona kuzvarwa vaine huremu hushoma uye vapfupi. Vanhu vazhinji vane chirwere cheRothmund-Thompson vanogona kuramba vari vapfupi pane vanhuwo zvavo muhupenyu hwavo hwese.

Kubereka

Kuvakadzi, kuenda kumwedzi kusingawanzoitiki kunogona kuitika.

Ndezvipi zvinetso zveRothmund-Thompson syndrome?

Ichi chinhu chatinofanira kunyanya kunetseka nacho. Vana vane (RTS) vari panjodzi yakakura yekubatwa nemarudzi akasiyana ekenza. Makuru ndeaya:

• Kenza yemapfupa (Osteosarcoma)
• Lymphatic leukemia, rudzi rwekenza yeropa
• Lymphoma (kenza ye lymphatic system)
• Gomarara reganda (Basal cell carcinoma uye Squamous cell carcinoma)

Saka, zvakakosha zvikuru kuti vana ava vagare vachiongororwa nachiremba uye vachenjerere nezvegomarara.

Chii chinokonzera chirwere cheRothmund-Thompson?

Rothmund-Thompson syndrome inokonzerwa nekuchinja kwemajini ANAPC1 kana RECQL4.Vamwe vanhu vane RTS vanogara nhaka iyi mutation kubva kuna amai nababa vavo. Semuenzaniso, kana iwe nemumwe wako mese muri vatakuri vemagene mutation aya, mwana wenyu ane mukana we1 pa4 wekuva neRTS.

Zvisinei, havasi vese vane RTS vane shanduko iyi yemajini. Vaongorori vachiri kuferefeta kuti sei vamwe vanhu vachigadzira RTS vasina shanduko mumajini e'ANAPC1 kana RECQL4.

Ndezvipi zviratidzo zveRothmund-Thompson syndrome?

Zviratidzo zveRothmund-Thompson syndrome zvinowanzoonekwa mukati megore rekutanga rehupenyu. Zvisinei, zviratidzo zvinosiyana kubva pamunhu kusvika pamunhu. Zvimwe zviratidzo zvakajairika zvinosanganisira:

• Matumbu emusoro
• Kuchinja kwezvimiro zvechiso (semuenzaniso, mhino diki, shaya yepasi inobuda)
• Matambudziko ekudyisa, kunyanya kurutsa kana manyoka mushure mekunwa mukaka kana mukaka wemushonga
• Kuremara kwemapfupa emaoko, maoko, kana makumbo
• Mazino madiki, asina chimiro, kana kuti asipo
• Kurasikirwa nebvudzi kana kukura kwebvudzi kushoma (kusanganisira tsiye netsiye)
• Mavara akaomarara paganda (maronda ekeratotic - akafanana nechibage)
• Mapundu eganda (poikiloderma) uye pamwe maronda
• Kuchinja kweruvara rweganda (mavara eganda anochinja ruvara)

Vanachiremba vanoongorora sei Rothmund-Thompson syndrome?

Unogona kuona zviratidzo izvi pamwana wako iwe pachako. Kana kuti, chiremba wako anogona kuona zviratidzo izvi panguva yekushanya kwake kumwana ari mutano nguva dzose. Kana chiremba wako achifungidzira kuti ane RTS, acharaira bvunzo dzinoverengeka kuti asimbise chirwere chacho.

Ndezvipi zviedzo zvinoshandiswa kuongorora chirwere (RTS)?

Chiremba anogona kukurudzira bvunzo dzakadai se:

• Kuongororwa kweganda: Kana mwana wako aine mapundu paganda anonzi poikiloderma, chiremba anogona kutora sampuli diki yeganda otumira kuti inoongororwa. Vanachiremba vane hunyanzvi (vanachiremba vezvirwere) vachaongorora sampuli iyi vachishandisa maikorosikopu kuti vaone kana paine shanduko mumasero eganda.
• Kuongororwa kwemajini: Uku kuongororwa kweropa. Kunogona kuona kana paine shanduko mumajini ANAPC1 kana RECQL4. Izvi zvinogona kusimbisa (RTS). Asi yeuka, havasi vana vese vane (RTS) vane shanduko yemajini iyi.

Rothmund-Thompson syndrome inorapwa sei?

Zvinosuwisa kuti vanachiremba havagone kurapa chirwere cheRothmund-Thompson zvachose. Asi vanogona kurapa zviratidzo zvacho. Kurapwa kwe (RTS) kunoenderana nezviratidzo zvemwana wako. Chiremba wako achataura newe nezvemishonga inogona kubatsira mwana wako kuti arambe aine hutano.

Zvichienderana nezviratidzo zvemwana wako nezera rake, vanachiremba vanogona kukurudzira kurapwa kwakadai:

• Kuvhiyiwa kwecataract kuti uvandudze kuona.
• Kana paine mapfupa asina kujairika, anogona kurapwa nekuvhiyiwa kwemapfupa kwakakosha (Orthopedic surgeries) .
• Dziviriro kubva kuzuva rakasimba(kushandisa mafuta ekudzivirira zuva, kupfeka ngowani) uye kugara uchiongorora ganda rako .
• Kuongororwa mazino nguva nenguva uye kurapwa kwemazino kana zvichidikanwa.
• Kuongororwa kwegomarara: Izvi zvinoreva kugara uchitarisa zviratidzo zvegomarara.

Pane mushonga wemajini here weizvi?

Parizvino, hapana mushonga wemajini unotenderwa weRothmund-Thompson syndrome, asi vaongorori vachiri kuferefeta shanduko dzemajini dzine chekuita neRTS.

Ndinogona here kudzivirira mwana wangu kuti asakure (RTS)?

Zvinosuwisa kuti hapana nzira yekudzivirira chirwere cheRothmund-Thompson. Idambudziko remajini. Vamwe vanhu vanogona kuchibata nekuda kwenhoroondo yemhuri. Dzimwe nguva chinogonawo kuitika nezvikonzero zvisingatsananguriki.

Ndingaziva sei kana mwana wangu ari panjodzi yekuzvara (RTS)?

Kana mumwe munhu mumhuri yako (kana yemhuri yemumwe wako) aine Rothmund-Thompson syndrome, zvakakosha kuti uwane mazano ezvemajini. Izvi zvichakubatsira kudzidza zvakawanda nezvenjodzi yako yekuva nemwana ane RTS. Iwe nemumwe wako munogona kuongororwa ropa kuti muone kana muri kutakura gene mutation iyi.

Fungidzirai kuti mese mune iyi gene mutation. Izvi hazvirevi kuti mwana wenyu achave neRTS. Mwana wenyu anogona kunge ari mutakuri weRTS (zvichireva kuti anogona kutapurira gene kuvana vake pasina zviratidzo), asi zvinokwanisikawo kuti haazove nezviratidzo.

Chii chandinofanira kutarisira kana mwana wangu aine (RTS)?

Vanachiremba vachanyatsoongorora mwana wenyu ('surveillance'). Nekuti vana vane (RTS) vari panjodzi yakakura yekubatwa nekenza, chiremba acharamba achitarisa zviratidzo zvekenza idzi.

Mwana wenyu angangoda rubatsiro kubva kunyanzvi kuti vagadzirise zvimwe zvezviratidzo zvake zveRTS. Pamusoro pevanachiremba vevana, vanogona kuona chiremba wemaziso, dermatologist, chiremba wemazino, chiremba wemapfupa, nyanzvi yezvemajini, uye chiremba weropa/oncologist .

Mwana wangu ane chirwere cheRothmund-Thompson anotarisirwa kurarama kwenguva yakareba sei?

Vana vazhinji vane Rothmund-Thompson syndrome vane ramangwana rakanaka. Njere dzavo dzakajairikawo. Vanhu vane (RTS) vasingabatwe nekenza vanorarama hupenyu hwakajairika.

Ndingatarisira sei mwana wangu ane chirwere cheRothmund-Thompson?

Gara uchitaura nachiremba wako nezvezviratidzo zvemwana wako. Chiremba anogona kukurudzira kuti uwane rubatsiro kubva kune nyanzvi.

Udza chiremba wako nekukasika kana ukaona mavara matsva kana mapundu paganda remwana wako, kunyanya kana akachinja ruvara kana magadzirirwo awo. Zvakare, udza chiremba wako kana ukaona kuzvimba kana mapundu mumaoko kana makumbo emwana wako, kana kana mwana wako achinyunyuta nezvekurwadziwa.

Mharidzo Yekuenda Nayo Kumba

Rothmund-Thompson syndrome chirwere chemajini chinokonzerwa nemajini ayo vamwe vana vanozvarwa nacho. Chinokonzera mapundu paganda, kuchinja kwebvudzi, mapfupa, uye mazino. Chinowedzerawo njodzi yekenza. (RTS) haigone kurapwa, asi zviratidzo zvinogona kurapwa. Taura nachiremba wako nezvenzira dzekubatsira mwana wako kurarama hupenyu hune hutano. Usanetseke, chirwere ichi chinogona kugadziriswa nemazano akakodzera echiremba uye kutarisirwa.

Rothmund -Thomson Syndrome, RTS, poikiloderma, chirwere chemajini, mapundu eganda, kurasikirwa nebvudzi, njodzi yekenza