Zimene muyenera kudziwa zokhudza Rothmund-Thomson Syndrome (RTS)!

Kodi mukuda nkhawa ndi kutayika kwa khungu kapena tsitsi la mwana wanu? Nthawi zina, zizindikirozi zimatha kuchitika chifukwa cha vuto losowa. Limodzi mwa matenda amenewa ndi Rothmund-Thomson Syndrome , kapena (RTS) mwachidule. Dzinali lingamveke ngati lovuta pang'ono, koma tiyeni likhale losavuta kumva.

Kodi Rothmund-Thompson Syndrome (RTS) ndi chiyani?

Mwachidule, matenda a Rothmund-Thompson ndi matenda omwe ana ena amabadwa nawo. Ndi matenda a majini. Izi zikutanthauza kuti, amayamba chifukwa cha kusintha kwa majini ang'onoang'ono kwambiri m'thupi lathu. Matendawa amatha kukhudza ziwalo zingapo za thupi la mwana. Amakhudza kwambiri khungu, tsitsi, mano, mafupa, maso, ndi kubereka. Nthawi zina, ana awa amasinthasintha kukula ndi mawonekedwe a zinthu monga manja awo, mapazi, ndi zikhatho zawo.

Ndani amadwala matendawa? Kodi ndi ofala bwanji?

Matenda a Rothmund-Thompson ndi matenda obadwa nawo m'majini . Izi zikutanthauza kuti ngati makolo onse awiri ali ndi kusintha kwa majini enaake, mwana wawo akhoza kukhala ndi matendawa.

Koma musadandaule, vutoli ndi losowa kwambiri . Milandu pafupifupi 300 yokha ndi yomwe yanenedwa padziko lonse lapansi. Chifukwa chake si chinthu chomwe chimachitikira aliyense.

Kodi pali dzina lina la izi? Inde, nthawi zina amatchedwanso `(poikiloderma congenitale)`.

Kodi matenda a Rothmund-Thompson adzakhudza bwanji mwana wanga?

Matendawa (RTS) angayambitse kusintha kwa momwe mwana amakulira komanso kukula. Tiyeni tiwone zomwe zimachitika makamaka:

• Matuza pakhungu: Matuza ofiira angawonekere, makamaka pamasaya.
• Kutaya kapena kuonda tsitsi: Pakhoza kukhala kutayika kwa tsitsi pamutu, komanso kutayika kwa nsidze ndi nsidze.
• Kusintha kwa maso: Mavuto ena a maso angachitike.
• Kuchedwa kuyamba kwa mano: Kuchedwa kuyamba kwa mano kungachitike mochedwa kuposa ana ena.
• Mawonekedwe a nkhope: Mutha kuwona zinthu monga mphuno yaying'ono ndi nsagwada yapansi yotuluka.

Momwe Matenda a Rothmund-Thompson Amakhudzira Matupi a Thupi

Matendawa amatha kukhudza anthu m'njira zosiyanasiyana. Izi zikutanthauza kuti si aliyense amene adzakumana ndi zizindikiro zofanana. Tiyeni tiwone momwe zimakhudzira ziwalo zosiyanasiyana za thupi.

Khungu

Makanda omwe ali ndi vutoli nthawi zambiri amakhala ndi ziphuphu pankhope pawo ali ndi miyezi itatu mpaka isanu ndi umodzi. Ziphuphu zimenezi zimatha kufalikira m'manja, miyendo, ndi matako. Ziphuphu zimenezi zimatchedwanso ``poikiloderma.'' Ndi kuphatikiza kwa zizindikiro monga kusintha kwa mtundu wa khungu, mitsempha yamagazi yooneka, komanso kuchepa kwa khungu.

Chofunika kwambiri, ana awa ali pachiwopsezo chachikulu chotenga khansa ya pakhungu (`Basal cell carcinoma` ndi `Squamous cell carcinoma`). Chifukwa chake, kuteteza dzuwa ndi kuyang'anitsitsa khungu nthawi zonse ndikofunikira kwambiri.

Tsitsi

Ana awa akhoza kukhala ndi tsitsi lochepa kwambiri la pakhungu. Angakhalenso ndi nsidze kapena nsidze zochepa kapena alibe.

Mano

Ana omwe ali ndi matenda a Rothmund-Thompson amatha kutaya mano, kukhala ndi mano osakhazikika bwino, kapena kukhala ndi mano omwe amatuluka mochedwa kwambiri. Alinso pachiwopsezo chachikulu chokhala ndi mano obowoka. Chifukwa chake, ndi bwino kuti mano anu azifufuzidwa nthawi zonse ndi dokotala wa mano.

Maso

Ana omwe ali ndi vutoli m'majini ali pachiwopsezo chachikulu chotenga matenda a maso, nthawi zambiri azaka zapakati pa 3 ndi 7. Matenda a maso ndi vuto la maso lomwe limaphimba maso mkati mwa diso. Izi zingayambitse kulephera kuona bwino.

Mafupa

Pakhoza kukhalanso kusintha kwina m'mafupa. Mafupa angakhale ang'onoang'ono kuposa masiku onse, akhoza kulumikizidwa pamodzi, kapena mafupa ena angakhale akusowa. Komanso, mafupawo ndi opyapyala ndipo amatha kusweka mosavuta (kusweka).

M'mimba (Kugaya chakudya)

Makanda omwe ali ndi RTS angakhale ndi vuto la kudya. Kusanza ndi kutsegula m'mimba nazonso n'zofala.

Dongosolo la magazi (Hematologic)

Ana amenewa nthawi zambiri amakhala ndi matenda monga kuchepa kwa magazi m'thupi komanso kuchepa kwa maselo oyera m'magazi. Maselo oyera m'magazi ndi mtundu wa maselo m'thupi lathu omwe amalimbana ndi matenda.

Kukula

Ana awa angabadwe ali ndi thupi lochepa komanso lalifupi. Anthu ambiri omwe ali ndi matenda a Rothmund-Thompson nthawi zambiri amakhala afupiafupi kuposa aafupiafupi m'miyoyo yawo yonse.

Kubereka

Kwa akazi, kusamba kosazolowereka kumatha kuchitika.

Kodi mavuto a Rothmund-Thompson syndrome ndi otani?

Ichi ndi chinthu chomwe tiyenera kuda nkhawa nacho kwambiri. Ana omwe ali ndi (RTS) ali pachiwopsezo chachikulu chotenga mitundu ina ya khansa. Akuluakulu ndi awa:

• Khansa ya mafupa (`Osteosarcoma`)
• Lymphatic leukemia, mtundu wa khansa ya m'magazi
• Lymphoma (khansa ya dongosolo la lymphatic)
• Khansa ya pakhungu (`Basal cell carcinoma` ndi `Squamous cell carcinoma`)

Choncho, ndikofunikira kwambiri kuti ana awa azipimidwa nthawi zonse ndikukhala maso ndi khansa.

Kodi n’chiyani chimayambitsa matenda a Rothmund-Thompson?

Matenda a Rothmund-Thompson amayamba chifukwa cha kusintha kwa majini a `ANAPC1` kapena `RECQL4`.Anthu ena omwe ali ndi RTS amalandira kusintha kumeneku kuchokera kwa amayi ndi abambo awo. Mwachitsanzo, ngati inu ndi mnzanu nonse muli ndi kachilombo ka jini, mwana wanu ali ndi mwayi umodzi mwa anayi wokhala ndi RTS.

Komabe, si aliyense amene ali ndi RTS amene ali ndi kusintha kwa majini kumeneku. Ofufuza akufufuzabe chifukwa chake anthu ena amapanga RTS popanda kusintha kwa majini a `ANAPC1` kapena `RECQL4`.

Kodi zizindikiro za matenda a Rothmund-Thompson ndi ziti?

Zizindikiro za matenda a Rothmund-Thompson nthawi zambiri zimawonekera mkati mwa chaka choyamba cha moyo. Komabe, zizindikiro zimasiyana malinga ndi munthu. Zizindikiro zina zodziwika bwino ndi izi:

• Matenda a Cataract
• Kusintha kwa mawonekedwe a nkhope (monga mphuno yaying'ono, nsagwada yapansi yotuluka)
• Mavuto okhudzana ndi kudya, makamaka kusanza kapena kutsegula m'mimba mutamwa mkaka kapena mkaka wophikidwa
• Kufooka kwa mafupa a manja, manja, kapena miyendo
• Mano ang'onoang'ono, osaoneka bwino, kapena osowa
• Kutaya tsitsi kapena kuchepa kwa kukula kwa tsitsi (kuphatikizapo nsidze ndi nsidze)
• Mabala olimba komanso okhwima pakhungu (zilonda za keratotic - monga chimanga)
• Kutupa pakhungu (poikiloderma) ndipo mwina matuza
• Kusintha kwa mtundu wa khungu (madontho a mtundu wa khungu)

Kodi madokotala amazindikira bwanji matenda a Rothmund-Thompson?

Mungazindikire nokha zizindikiro izi mwa mwana wanu. Kapena, dokotala wanu angazindikire zizindikiro izi paulendo wa mwana wathanzi. Ngati dokotala wanu akukayikira RTS, adzalamula mayeso angapo kuti atsimikizire matendawa.

Ndi mayeso ati omwe amagwiritsidwa ntchito pozindikira matenda (RTS)?

Dokotala angakulangizeni mayeso monga:

• Kuyeza khungu: Ngati mwana wanu ali ndi ziphuphu pakhungu zotchedwa poikiloderma, dokotala angatenge chitsanzo chaching'ono cha khungu ndikutumiza kuti akayesedwe. Madokotala apadera (akatswiri a matenda) adzayang'ana chitsanzochi pansi pa maikulosikopu kuti awone ngati pali kusintha kulikonse m'maselo a khungu.
• Kuyezetsa majini: Uku ndi kuyezetsa magazi. Kungathe kuzindikira ngati pali kusintha kwa majini `ANAPC1` kapena `RECQL4`. Izi zitha kutsimikizira (RTS). Koma kumbukirani, si mwana aliyense amene ali ndi (RTS) amene ali ndi kusintha kwa majini kumeneku.

Kodi matenda a Rothmund-Thompson amachiritsidwa bwanji?

Mwatsoka, madokotala sangathe kuchiza matenda a Rothmund-Thompson kwathunthu. Koma amatha kuchiza zizindikiro zake. Chithandizo cha (RTS) chimadalira zizindikiro za mwana wanu. Dokotala wanu adzakambirana nanu za mankhwala omwe angathandize mwana wanu kukhala wathanzi.

Malinga ndi zizindikiro ndi zaka za mwana wanu, madokotala angakulangizeni mankhwala monga awa:

• Opaleshoni ya cataract kuti ithandize kuwona bwino.
• Ngati pali mafupa osazolowereka, akhoza kuchiritsidwa ndi opaleshoni yapadera ya mafupa (`Orthopedic surgeries`) .
• Chitetezo ku dzuwa lamphamvu(kugwiritsa ntchito mafuta oteteza ku dzuwa, kuvala zipewa) ndikuyang'ana khungu lanu nthawi zonse .
• Kupimidwa mano pafupipafupi ndi chithandizo cha mano chobwezeretsa ngati pakufunika kutero.
• Kuyang'anira khansa: Izi zikutanthauza kuyang'ana zizindikiro za khansa nthawi zonse .

Kodi pali njira yochizira majini pa izi?

Pakadali pano, palibe chithandizo chovomerezeka cha majini cha Rothmund-Thompson syndrome, koma ofufuza akupitiliza kufufuza za kusintha kwa majini komwe kumakhudzana ndi RTS.

Kodi ndingalepheretse mwana wanga kukula (RTS)?

Mwatsoka, palibe njira yopewera matenda a Rothmund-Thompson. Ndi matenda obadwa nawo. Anthu ena amatha kudwala matendawa chifukwa cha mbiri ya banja lawo. Nthawi zina amathanso kuchitika pazifukwa zosamveka bwino.

Kodi ndingadziwe bwanji ngati mwana wanga ali pachiwopsezo chotenga matenda (RTS)?

Ngati wina m'banja mwanu (kapena m'banja la mnzanu) ali ndi matenda a Rothmund-Thompson, ndikofunikira kwambiri kupeza upangiri wa majini. Izi zikuthandizani kudziwa zambiri za chiopsezo chanu chokhala ndi mwana ndi RTS. Inu ndi mnzanuyo nonse mutha kuyezetsa magazi kuti muwone ngati ndinu omwe ali ndi kusintha kwa majini kumeneku.

Tangoganizani kuti nonse muli ndi kusintha kwa majini. Izi sizikutanthauza kuti mwana wanu adzakhala ndi RTS. Mwana wanu akhoza kukhala ndi RTS (kutanthauza kuti akhoza kupatsira ana ake jiniyo popanda zizindikiro), komanso n'zotheka kuti iye sadzakhala ndi zizindikiro.

Kodi ndiyenera kuyembekezera chiyani ngati mwana wanga ali ndi (RTS)?

Madokotala adzayang'anira mwana wanu mosamala kwambiri ('kuyang'aniridwa'). Popeza ana omwe ali ndi (RTS) ali pachiwopsezo chachikulu chotenga khansa zina, dokotalayo nthawi zonse amafufuza zizindikiro za khansa imeneyi.

Mwana wanu angafunike thandizo kuchokera kwa akatswiri kuti athetse zizindikiro zina za RTS. Kuwonjezera pa dokotala wawo wamba, angakumane ndi dokotala wa maso, dermatologist, dokotala wa mano, dokotala wa mafupa, katswiri wa majini, ndi katswiri wa magazi/oncologist .

Kodi mwana wanga amene ali ndi matenda a Rothmund-Thompson amakhala ndi moyo wautali bwanji?

Ana ambiri omwe ali ndi matenda a Rothmund-Thompson ali ndi tsogolo labwino. Nzeru zawo nazonso ndi zabwinobwino. Anthu omwe ali ndi (RTS) omwe sadwala khansa amakhala ndi moyo wabwinobwino.

Kodi ndingasamalire bwanji mwana wanga amene ali ndi matenda a Rothmund-Thompson?

Nthawi zonse lankhulani ndi dokotala wanu za zizindikiro za mwana wanu. Dokotala angakulangizeni kuti mupeze thandizo kwa akatswiri.

Uzani dokotala wanu nthawi yomweyo ngati mwawona mawanga kapena ziphuphu zatsopano pakhungu la mwana wanu, makamaka ngati zasintha mtundu kapena kapangidwe kake. Komanso, uzani dokotala wanu ngati mwawona kutupa kapena ziphuphu zilizonse m'manja kapena miyendo ya mwana wanu, kapena ngati mwana wanu akudandaula za ululu.

Uthenga Wopita Nawo Kunyumba

Matenda a Rothmund-Thompson ndi matenda a majini omwe ana ena amabadwa nawo. Amayambitsa ziphuphu pakhungu, kusintha kwa tsitsi, mafupa, ndi mano. Amawonjezeranso chiopsezo cha khansa. (RTS) sichitha kuchiritsidwa, koma zizindikiro zake zimatha kuchiritsidwa. Lankhulani ndi dokotala wanu za njira zothandizira mwana wanu kukhala ndi moyo wathanzi. Musadandaule, vutoli lingathe kuthetsedwa ndi upangiri woyenera wachipatala komanso chisamaliro.

Matenda a Rothmund -Thomson, RTS, poikiloderma, matenda a majini, ziphuphu pakhungu, kutaya tsitsi, chiopsezo cha khansa