Kodi mwana wanu ali ndi vuto la maso, makutu, ndi mafupa nthawi imodzi? Izi zitha kukhala Stickler Syndrome!

Nthawi zina ana athu amadwala mmodzi ndi mmodzi, sichoncho? Koma ana ena mwadzidzidzi angakumane ndi mavuto angapo osafanana, monga mavuto a maso, mavuto akumva, ndi kupweteka kwa mafupa. Kodi mwakumanapo ndi vuto lofananalo? Ndiye izi zikunena za matenda a majini otchedwa Stickler Syndrome, omwe angayambitse vuto lotere. Ngakhale izi zingawoneke zovuta pang'ono, tiyeni tikambirane mwachidule.

Kodi Stickler Syndrome ndi chiyani? Kunena zoona...

Mwachidule, Stickler syndrome ndi matenda a majini . Amayambitsidwa ndi kusintha kwa majini athu. Amakhudza kwambiri minofu yolumikizana m'thupi lathu. Minofu yolumikizana iyi ndi mtundu wapadera wa minofu yomwe imalumikiza, imathandizira, ndikupatsa mawonekedwe ziwalo zina za thupi lathu, monga ziwalo ndi minofu. Taganizirani ngati kugwiritsa ntchito simenti ndi waya kuti tigwirizanitse makoma ndi denga la nyumba yathu. Minofu yolumikizana iyi ndi yofunika kwambiri pathupi lathu.

Chifukwa chake, pankhaniyi ya Stickler syndrome, minofu yolumikizana m'malo monga nkhope, makutu, maso, ndi mafupa imakhudzidwa kwambiri. Chifukwa cha izi, ana ena amatha kusintha nkhope, monga kusweka kwa mkamwa. Pakhoza kukhalanso mavuto ndi masomphenya , kumva, ndi kuyenda. Izi nthawi zina zimatchedwa Stickler dysplasia.

Kodi vutoli ndi lofala bwanji? Ndani amene ali ndi mwayi waukulu wolidwala?

Matenda a Stickler akuyerekezeredwa kuti amakhudza mwana mmodzi kapena atatu mwa ana obadwa kumene 7,500 mpaka 10,000. Komabe, chifukwa chakuti matendawa nthawi zambiri sapezeka mokwanira, n'zovuta kunena kuti ndi anthu angati omwe akudwala matendawa.

Ponena za amene ali ndi vutoli, aliyense akhoza kutenga Stickler syndrome. Komabe, ngati wina m'banjamo, kutanthauza mayi, bambo, kapena m'bale wake, ali ndi vutoli, chiopsezo choti ena adwale matendawa chimakhala chachikulu. Komabe, nthawi zina, popanda mbiri ya banja, matendawa amathanso kuchitika chifukwa cha kusintha kwa majini mwachisawawa (` genetic mutation`) . Izi zikutanthauza kuti, sikuyenera kukhala chinthu chobadwa nacho.

Kodi Stickler Syndrome imakhudza bwanji thupi?

Monga tanenera kale, vutoli limakhudza minofu yolumikizana. Ntchito imodzi yayikulu ya minofu yolumikizana m'thupi lathu ndikuteteza ndikuthandizira minofu ndi ziwalo zina. Chifukwa chake, pakakhala kusintha, kapena cholakwika, mu jini yomwe imapanga minofu yolumikizana iyi, jini imeneyo silandira malangizo oyenera amomwe ingapangire minofu yolumikizana iyi komanso momwe iyenera kugwirira ntchito.

Ichi ndichifukwa chake, kwa munthu amene ali ndi matenda a Stickler,Kuyenda kwa maso, kumva, ndi mafupa kumakhudzidwa kwambiri. Maso, makutu, ndi mafupa zimakhudzidwa kwambiri. Anthu omwe ali ndi matenda a Stickler nthawi zambiri amakhala ndi nyamakazi ali ana . Komabe, ndi chithandizo choyenera, zizindikiro zimatha kuchepetsedwa ndipo anthu omwe ali ndi vutoli amatha kukhala ndi moyo wabwinobwino komanso wokangalika .

Kodi zizindikiro za izi ndi ziti? Kodi mungazindikire bwanji?

Zizindikiro za matenda a Stickler zimatha kusiyana malinga ndi munthu . Si aliyense amene ali ndi zizindikiro zonse. Ndicho chimene chimapangitsa kuti zikhale zapadera kwambiri. Mwachitsanzo, mwana mmodzi akhoza kukhala ndi mavuto ambiri a maso, pomwe wina akhoza kukhala ndi ululu wambiri wa mafupa.

Pali magulu angapo akuluakulu a zizindikiro zomwe zingawonekere:

Mavuto a mafupa ndi mafupa:

• Poyamba , ziwalozo zimakhala zofewa kwambiri , koma pakapita nthawi zimatha kuyamba kuuma .
• Kupindika kwa msana, kapena scoliosis, kungachitike.
• Matenda a nyamakazi amatha kuyamba ali mwana. Tangoganizirani ngati mwana, wosakwana zaka khumi, atadzuka m'mawa n'kudandaula za kupweteka m'mafupa awo, muyenera kuda nkhawa.

Mavuto okhudzana ndi kumva ndi khutu:

• Kutaya kumva kumatha kuchitika m'njira zosiyanasiyana. Anthu ena angataye kumva pang'ono, pomwe ena angataye kumva konse.

Mavuto a maso:

• Kuwona pafupi kwambiri (kapena myopia) kumatanthauza kuti zinthu zapafupi zokha ndi zomwe zingawoneke bwino, pomwe zinthu zakutali sizikuwoneka bwino.
• Kutupa kwa retina. Izi zitha kuchitika mwadzidzidzi ndipo zimafuna chithandizo chadzidzidzi.
• Matenda a maso .
• Kupanikizika kwa maso, komwe kumatchedwa glaucoma, kumawonjezeka.

Zinthu zapadera zomwe zimawonekera pankhope:

Kawirikawiri, mawonekedwe a nkhope ya ana omwe ali ndi vutoli amathanso kukhudzidwa ndi kukula kwawo.

• Mkamwa wosweka : Izi zikutanthauza kuti pali mpata padenga la pakamwa.
• Nsagwada yaing'ono komanso yopapatiza (`micrognathia`) : Izi nthawi zina zimatchedwa `Pierre Robin sequence`. Izi zingayambitse ana ena kuvutika kupuma ndi kumeza.
• Nkhope imakhala yathyathyathya ndipo mphuno imakhala yaying'ono.

Zizindikiro zina:

Kuwonjezera pa izi, zizindikiro zina zingawonekere:

• Kuvuta kupuma (makamaka kwa ana omwe ali ndi micrognathia).
• Mavuto a kudyetsa ana obadwa kumene.
• Mavuto a kuphunzira chifukwa cha vuto la kuona ndi kumva.

Chofunika: Si aliyense amene ali ndi zizindikiro zonsezi. Musadandaule ngati mwana wanu ali ndi chimodzi kapena ziwiri mwa zizindikirozi, koma ngati muwona zingapo pamodzi, ndi bwino kufunsa upangiri kwa dokotala.

Kodi pali mitundu yosiyanasiyana ya Stickler Syndrome?

Inde, pali mitundu ikuluikulu isanu ndi umodzi ya matenda a Stickler omwe apezeka. Kuopsa ndi mtundu wa zizindikiro zimasiyana malinga ndi mitundu iyi.

• Mtundu Woyamba: Uwu ndi mtundu wofala kwambiri . Kutaya kumva pang'ono komanso kusawona bwino ndiye zizindikiro zazikulu.
• Mtundu Wachiwiri: Izi zimakhudzidwa kwambiri ndi kutaya kumva komanso kusawona bwino.
• Mtundu Wachitatu: Kutaya kumva ndi mavuto a mafupa ndiye zizindikiro zazikulu. Zizindikiro za maso nthawi zambiri sizipezeka .
• Mitundu ya IV, V, ndi VI: Mitundu iyi ndi yosowa kwambiri . Imatha kukhala ndi mavuto aakulu a maso ndi kumva. Imathanso kukhala ndi zizindikiro zovuta kwambiri, monga kukulira kwa malekezero a mafupa ataliatali (spondyloepiphyseal dysplasia) ndi nyamakazi.

Madokotala amasankha mtundu wa munthu amene ali kutengera zizindikiro ndi mayeso.

Kodi chimayambitsa izi n’chiyani? Kodi chikoka cha majini n’chiyani?

Chifukwa chachikulu cha Stickler syndrome ndi kusintha kwa majini . Kusintha kumeneku kungachitike mu majini aliwonse asanu ndi limodzi omwe amalangiza matupi athu kupanga puloteni yapadera yotchedwa collagen . Collagen ndiye chinthu chachikulu chomwe chimapatsa minofu yathu yolumikizana kusinthasintha ndi mphamvu. Taganizirani izi ngati rabara, zomwe zimawapatsa kusinthasintha ndi mphamvu.

Choncho, majini amenewa akakhala ndi vuto, puloteni ya collagen siipangidwa bwino. Izi zimakhudza kwambiri collagen yomwe imapanga cartilage yathu ndi chinthu chonga jelly mkati mwa maso athu. Pakati pa majini amenewa, majini monga `(COL2A1)`, `(COL11A1)`, `(COL11A2)` ndi omwe ali akuluakulu.

Ngati mwana walandira chimodzi mwa majini osinthika awa, akhoza kusonyeza zizindikiro za matenda a Stickler.

Kodi majini amenewa amabadwa bwanji?

Pali njira ziwiri zazikulu zomwe izi zimachitikira cholowa:

• Fomu yolamulira ya Autosomal:Uwu ndi mtundu wofala kwambiri (makamaka mitundu I, II, ndi III). Chomwe chimachitika apa ndi chakuti ngakhale kholo limodzi litakhala ndi kusintha kwa majini, pali mwayi wa 50% kuti mwanayo adzalandira.
• Kuchuluka kwa matenda a Autosomal recessive: Izi sizichitika kawirikawiri (zimawoneka m'mitundu ya IV, V, ndi VI). Apa, makolo onse awiri ayenera kukhala ndi thanzi labwino . Izi zikutanthauza kuti alibe zizindikiro, koma ali ndi jini yosinthika. Ngati ndi choncho, pali mwayi wa 25% kuti mwanayo adzalandira matendawa.

Nthawi zina, kusintha kwa majini (`de novo mutation`) kungachitike mwangozi , popanda mbiri ya banja. Zinthu izi n'zovuta kuneneratu pasadakhale.

Kodi madokotala amazindikira bwanji izi?

Dokotala amatsatira njira zingapo kuti adziwe matenda a Stickler.

• Mbiri ya matenda a m'banja komanso kuyezetsa thupi: Choyamba, inu ndi mwana wanu mudzafunsidwa za zizindikiro zanu komanso ngati pali wina aliyense m'banja mwanu amene wakhala ndi matenda ofanana. Kenako, mwana wanu adzafufuzidwa kuti aone ngati pali zizindikiro zapadera pankhope, makutu, maso, ndi mafupa.
• Mayeso a maso ndi kumva: Mayesowa amachitidwa ndi madokotala apadera kuti awone kuchuluka kwa maso ndi kumva.
• Mayeso ojambulira: Nthawi zina mayeso monga X-ray angachitike kuti aone ngati pali vuto lililonse m'mafupa ndi m'malo olumikizirana mafupa.
• Kuyesa majini: Iyi ndi njira yaikulu yoyezera matenda yomwe imathandiza kupeza matenda enieni. Chitsanzo cha magazi kapena minofu chimatengedwa ndikuyesedwa kusintha kwa majini komwe kumayambitsa matenda a Stickler.

Kodi izi zitha kupezeka mwana asanabadwe?

Inde, nthawi zina kuyezetsa majini a mwana asanabadwe kumatha kuzindikira zolakwika zilizonse kapena kusintha kwa majini a mwana. Komabe, nthawi zambiri matenda otsimikizika amapangidwa mwana akangobadwa, akafufuzidwa mokwanira komanso akayesedwa zina zofunika kuti atsimikizire zizindikiro.

Kodi mankhwala a Stickler Syndrome ndi ati?

Ili ndi vuto lomwe anthu ambiri ali nalo. Pakadali pano palibe mankhwala a Stickler syndrome. Koma musadandaule. Pali njira zambiri zochizira matenda kuti muchepetse zizindikiro ndikuchepetsa mphamvu zake . Kuzindikira msanga ndi chithandizo ndizofunikira kwambiri. Makamaka ngati pali vuto la retina kapena mafupa osweka, chithandizo choyambirira chingalepheretse kuwonongeka kwakukulu.

Njira zochiritsira zimasiyana malinga ndi zizindikiro. Nazi zina mwa njira zazikulu zochiritsira:

• Sinthani masomphenyaKupereka magalasi kapena ma contact lenses.
• Kupereka zothandizira kumva kuti zithandize kumva bwino.
• Kupereka mankhwala ochepetsa ululu wa mafupa.
• Ngati mano apindika kapena asokonekera, chithandizo cha orthodontic chikhoza kuchitidwa kuti chikonzedwe.
• Kuchiza thupi ( monga masewera olimbitsa thupi apadera) kuti kulimbitsa mafupa ndikuwongolera kuyenda.
• Opaleshoni:
• Kugwiranso ntchito kwa retina yopatukana (opaleshoni yogwiranso ntchito ya retina).
• Kukonza mkamwa mopanda kanthu.
• Ngati kupuma kuli kovuta, chubu chaching'ono chingaikidwe pakhosi kuti kupuma kukhale kosavuta (mwina tracheostomy).
• Konzani kapena sinthani malo olumikizirana omwe awonongeka.

Kudzera mu chithandizochi, ana ndi akuluakulu omwe ali ndi Stickler syndrome amalandira thandizo lalikulu pakukhala ndi moyo wabwinobwino, wodzaza, komanso wotanganidwa .

Kodi vutoli lingapewedwe?

Matenda a Stickler ndi matenda obadwa nawo m'majini, kotero sangapewedwe . Komabe, ngati wina m'banja mwanu ali ndi vutoli ndipo mukukonzekera kukhala ndi mwana, upangiri wa majini ndi kuyezetsa majini kungakuthandizeni kumvetsetsa chiopsezo choti mwana wanu alandire matendawa.

Kodi mungayembekezere chiyani mukakhala ndi Stickler Syndrome?

Ngakhale kuti palibe mankhwala a vutoli, silikhudza moyo wa munthu . Izi zikutanthauza kuti, anthu omwe ali ndi vutoli amakhala ndi moyo wabwinobwino monga wina aliyense. Ndi kuyang'aniridwa ndi dokotala nthawi zonse, chithandizo chofunikira, komanso chithandizo, anthu ambiri amakhala ndi moyo wokangalika komanso wokhutiritsa.

Chofunika kwambiri ndikupeza matendawa ali aang'ono kapena ali ana aang'ono . Kenako, zizindikiro zimatha kuthetsedwa mwachangu ndipo mavuto omwe angabuke mtsogolo angathe kupewedwa.

Nthawi zina zizindikiro zimatha kubwereranso ngakhale mutalandira chithandizo. Mwachitsanzo, ngakhale mutachitidwa opaleshoni kuti muchotse retina yochotsedwa, vutoli limatha kubwereranso. Chifukwa chake, ndikofunikira kwambiri kupita kukayezetsa dokotala nthawi zonse ndikusamala za zizindikiro zanu .

Kodi pali kusintha kulikonse pa zochita za tsiku ndi tsiku?

Izi zimasiyana malinga ndi munthu, kutengera mtundu wa zizindikiro. Anthu ena sangakhale ndi vuto lalikulu, pomwe ena angafunike kukhala ndi zoletsa zina. Makamaka, madokotala amalangiza kupewa masewera olimbitsa thupi monga rugby ndi mpira, chifukwa chiopsezo cha kusweka kwa retina chimakhala chachikulu m'masewera otere.

Kodi muyenera kupita kwa dokotala liti?

Ngati inu kapena mwana wanu muli ndi zizindikiro zomwe mukuganiza kuti zingakhale zokhudzana ndi matenda a Stickler ndipo zikukhudza zochita zanu za tsiku ndi tsiku mpaka kufika poti simungathe kuchita bwino, onetsetsani kuti mwaonana ndi dokotala.

• Ngati muli ndi ululu waukulu wa mafupa .
• Ngati maso anu asintha mwadzidzidzi (monga kuona zinthu mopanda kuona bwino, kuona magetsi akuwala pamaso panu, kuona madontho akuda kapena ukonde ukuyandama pamaso panu, kapena kumva ngati mthunzi mbali ina ya maso anu - izi zitha kukhala zizindikiro za retina yopatukana).
• Ngati mukuvutika kumeza chakudya kapena chakumwa.
• Ngati malo omwe opaleshoniyo inachitikirapo akutuluka magazi, kutupa, kapena kutuluka magazi achikasu (izi zitha kutanthauza matenda).

Chofunika kwambiri: Ngati inu kapena mwana wanu mukuvutika kupuma , ndi vuto ladzidzidzi. Pitani kuchipatala chapafupi nthawi yomweyo, kapena imbani 1990.

Kodi ndi mafunso otani ofunika kufunsa dokotala?

Mukadziwa kuti inu kapena mwana wanu ali ndi Stickler syndrome, mutha kufunsa dokotala mafunso monga awa:

• Kodi vuto limeneli lotchedwa Stickler Syndrome ndi loopsa bwanji?
• Kodi chifukwa chake ndi chiyani?
• Kodi izi zidzakhudza bwanji moyo wa tsiku ndi tsiku wa mwana wanga?
• Kodi ndi mavuto ati omwe ndiyenera kuwaganizira kwambiri? Kodi zizindikiro zake ndi ziti?

Kuwonjezera pa mafunso awa, lankhulani ndi dokotala wanu za chilichonse chomwe mukuganiza, mantha aliwonse, kapena kukayikira kulikonse komwe muli nako.

Pomaliza, mfundo zofunika kwambiri (Uthenga Wopita Nawo Kunyumba)

Matenda a Stickler syndrome angakhale oopsa pang'ono kumva. Koma kumbukirani zinthu izi:

• Ichi ndi vuto la majini , osati chifukwa cha kusasamala kwanu.
• Popeza zimakhudza kwambiri minofu yolumikizana , zimatha kuyambitsa kusintha m'maso, makutu, mafupa, ndi nkhope.
• Zizindikiro zimatha kusiyana kwambiri kuchokera kwa munthu ndi munthu .
• Ngakhale kuti palibe mankhwala okwanira, pali njira zambiri zothandizira kuchepetsa zizindikiro ndikukhala ndi moyo wabwino .
• Kuzindikira matendawa msanga ndi kuyamba kulandira chithandizo ndiyo njira yabwino kwambiri yopezera zotsatira zabwino.
• Ngati wina m'banja mwanu ali ndi vutoli, ndikofunikira kufunafuna upangiri wa majini .

Mwa kusachita mantha ndikutsatira malangizo oyenera a dokotala, munthu amene ali ndi matenda a Stickler syndrome akhoza kukonza moyo wabwino monga wina aliyense. Ngati muli ndi mafunso ena, musazengereze kulankhula ndi dokotala.

Matenda a Stickler, matenda a majini, minofu yolumikizana, kolajeni, kulephera kuwona, kulephera kumva, matenda a mafupa, thanzi la ana