Kodi mukudziwa za matenda a PURA? Dziwani zinthu izi kuti muthandize mwana wanu mtsogolo!

Kodi mumakayikirapo pang'ono kapena mantha okhudza kukula kwa mwana wanu? Nthawi zina makanda amaphunzira zinthu pang'onopang'ono, kapena mavuto ena azaumoyo amabuka. Nthawi zina ngati izi, kungakhale kofunikira kudziwa za matenda osowa otchedwa PURA syndrome. Ngati izi zikumveka ngati zovuta pang'ono, musachite mantha. Tiyeni tikambirane mwachidule.

Kodi matenda a PURA ndi chiyani?

Mwachidule, matenda a PURA ndi matenda osowa kwambiri omwe amapezeka m'majini . Amakhudza kwambiri mitsempha yathu yamagazi . Izi zikutanthauza kuti ubongo ndi mitsempha zimakhudzidwa kwambiri. Chifukwa cha izi, kukula kwa mwana kumatha kuchedwa kuyambira pang'ono mpaka kwakukulu . Zingayambitsenso mavuto ophunzirira. Nthawi zambiri, ana omwe ali ndi matenda a PURA amatha kukhala ndi vuto loyenda, khunyu kapena khunyu, ndi mavuto ena azaumoyo.

Ofufuza amakhulupirira kuti izi zimachitika chifukwa cha kusintha, kapena kusintha kwa majini komwe kumakhudzana ndi kukula kwa ubongo ndi maselo amitsempha (maselo amitsempha / ma neuron). Makanda obadwa ndi vutoli amatha kukhala ndi vuto lodya ndi kupuma pachiyambi. Komabe, nthawi zina izi zimakula pakapita nthawi. Komabe, ana ambiri sangalankhule kapena kuyenda okha akakula.

Pakadali pano palibe mankhwala a PURA syndrome. Komabe, chithandizo choyenera chingakuthandizeni inu ndi mwana wanu kuthana ndi zizindikiro ndikuchepetsa mavuto. Chifukwa chake , ndikofunikira kwambiri kuzindikira vutoli msanga .

Ndani angadwale matenda a PURA?

Matenda a PURA ndi matenda obadwa nawo . Izi zikutanthauza kuti vutoli likhoza kukhalapo munthu akangobadwa. Limakhudza mitsempha yamagazi. Nthawi zina, vutoli limatha kufalikira kuchokera kwa makolo kupita kwa ana kudzera m'majini. Komabe, ndikofunikira kukumbukira kuti mwana amatha kukhala ndi matenda a PURA ngakhale palibe aliyense m'banjamo amene wakhalapo ndi vutoli kale . Izi zikutanthauza kuti kusintha kwa majini atsopano kungakhalepo.

Ndi zinthu zina ziti zomwe zikufanana ndi izi?

Zizindikiro za matenda a PURA zitha kufanana ndi matenda ena, kotero nthawi zina zimakhala zovuta kuti madokotala adziwe nthawi yomweyo ngati ndi matenda a PURA. Nazi zina mwa matenda omwe ali ndi zizindikiro zofanana:

• `(Angelman syndrome)`
• Matenda a Congenital central hypoventilation syndrome - Iyi ndi matenda osowa kwambiri amitsempha omwe amakhudza kupuma.
• Myotonic dystrophy - Iyi ndi matenda a m'gulu la matenda a minofu otchedwa muscular dystrophy.
• Matenda okhudzana ndi ma neurotransmitter - mwachitsanzo, matenda a Alzheimer's kapena matenda a Parkinson.
• Matenda a Pitt-Hopkins - Ichi ndi matenda osowa kwambiri omwe amayambitsa kuchedwa kwa chitukuko ndi khunyu.
• `(Matenda a Prader-Willi)`
• `(Matenda a Rett)`

Popeza zizindikirozi ndi zofanana , mayeso apadera amafunika kuti munthu adziwe matenda molondola .

Kodi pali mayina ena a PURA syndrome?

Inde, nthawi zina madokotala amatha kutchula vutoli ndi mayina ena asayansi. Ndi bwino kudziwanso pang'ono za vutoli, sichoncho? Mwachitsanzo:

• `(Kuchedwa kwa chitukuko cha nzeru, autosomal dominant 31)`
• `(Matenda okhudzana ndi chitukuko cha mitsempha okhudzana ndi PURA)`
• `(Matenda oopsa a PURA okhudzana ndi hypotonia-epilepsy-encephalopathy syndrome)`

Ngakhale mayina awa angawoneke ovuta pang'ono, onsewa amatanthauza vuto lomwelo.

Kodi matenda a PURA ndi ofala bwanji?

Matenda a PURA ndi matenda osowa kwambiri . Pakadali pano, akuluakulu ndi ana oposa 470 anenedwa kuti ali ndi vutoli padziko lonse lapansi. Tangoganizirani, ndi momwe anthu ochepa alili. Madokotala adayamba kulankhula za matendawa mu 2014. Izi zikutanthauza kuti ndi matenda atsopano.

Kodi pali ubale wotani pakati pa matenda a PURA ndi khunyu?

Anthu ambiri obadwa ndi matenda a PURA ali ndi chiopsezo chowonjezeka cha matenda a khunyu . Nthawi zina izi zitha kukhala mtundu wa khunyu womwe suyankha mankhwala. Izi zikutanthauza kuti zimakhala zovuta kulamulira ndi mankhwala. Mitundu yodziwika bwino ya khunyu ndi khunyu kapena khunyu wamba. Zizindikirozi nthawi zambiri zimayamba ali aang'ono kapena ali ana aang'ono .

Kodi zifukwa za PURA syndrome ndi ziti? (mwatsatanetsatane pang'ono)

Monga tanenera kale, chifukwa chachikulu cha matenda a PURA ndi kusintha kwa majini enaake m'thupi lathu otchedwa `(PURA gene)`. Jini iyi ya `(PURA)` imagwira ntchito yofunika kwambiri pakukula kwa ubongo. Chifukwa chake, pakakhala vuto mu jini iyi, imatha kukhudza kukula kwa maselo amitsempha `(neurons)` ndi kapangidwe ka chinthu chotchedwa `(myelin)`. `(Myelin)` ndi chinthu chomwe chimaphimba mitsempha yathu ndikuthandiza zizindikiro kuyenda mwachangu. Ndiye tangoganizirani momwe ntchito ya ubongo imakhudzidwira pamene njirayi yasokonekera.

Kodi zizindikiro za matenda a PURA ndi ziti?

Zizindikiro za matenda a PURA zimatha kukhudza ziwalo zosiyanasiyana za thupi. Ana obadwa ndi vutoli amakhala ndi vuto la kuphunzira pang'ono mpaka lalikulu komanso kuchedwa kukula .

Zizindikiro zomwe zimawonedwa mwa makanda obadwa kumene:

• Nthawi zambiri pamakhala vuto pakudya kapena kupuma .
• Chithandizo chamankhwala (chomwe chimaperekedwa podyetsa kapena popumira) chingafunike, koma mavuto opuma nthawi zambiri amatha pakatha chaka chimodzi.
• Kuvuta kudya kapena kumeza (dysphagia) nthawi zina kumatha kukhala kosatha ndipo kumatha kwa nthawi yoposa chaka chimodzi.

Zizindikiro zomwe zingawonekere mwa ana okulirapo pang'ono:

• Mwina simungathe kuyenda bwino , ndipo luso lanu loyendetsa thupi likhoza kusokonekera.
• Ngakhale mutamvetsa chilankhulocho, simungathe kuchilankhula .
• Ngakhale atakhala kuti amatha kulankhula, amatha kulankhulana m'mawu afupiafupi kapena m'ziganizo .

Anthu ambiri omwe ali ndi matenda a PURA amakumana ndi khunyu (khunyu) kapena kugwedezeka. Izi nthawi zambiri zimakhala izi:

• Zimayamba munthu asanakwanitse zaka 5. Zingayambe ngati minofu yogwedezeka mosadzifunira (myoclonus).
• N'zovuta kulamulira .
• Nthawi zina zimatha kukhala mtundu wovuta komanso wovuta wa khunyu wotchedwa ``Lennox-Gastaut syndrome''.

Zizindikiro zina zodziwika bwino zomwe zimapezeka mwa ana ndi akuluakulu:

• Mavuto a mafupa ndi mafupa - monga chiuno chofooka ndi scoliosis.
• Mavuto opuma - kupuma movutikira panthawi yogona (kupuma movutikira) kapena kupuma pang'onopang'ono komanso mopanda mphamvu (hypoventilation).
• Kuvuta kutentha thupi (hypothermia).
• Kutopa kwambiri komanso kugona tulo tofa nato (hypersomnia).
• Mavuto a maso - monga strabismus.
• Kuvutika pafupipafupi.
• Mavuto a m'mimba - monga kudzimbidwa.
• Kuchepa kwa minofu (hypotonia).
• Kusakhazikika bwino kapena kuvutika kuyenda (matenda oyenda).
• Kulephera kuona bwino.

Zizindikiro zosazolowereka:

• Zilema za mtima.
• Mavuto a dongosolo la endocrine - monga kusowa kwa vitamini D kapena kutha msinkhu msanga.
• Mavuto a mkodzo ndi njira zoberekera.

Kodi matenda a PURA amawapeza bwanji?

Matenda a PURA angakhale ovuta kuwazindikira potengera mayeso akuthupi okha. Monga tafotokozera kale, zizindikiro zimatha kufanana ndi matenda ena. Chifukwa chake, madokotala ayenera kuchita mayeso a majini kuti atsimikizire kuti ndi matenda a PURA .

Kutengera ndi zizindikiro za mwana wanu, dokotala angachitenso mayeso ena. Mwachitsanzo:

• Kuyezetsa magazi.
• Mayeso a kupuma.
• `(EEG)` (Electroencephalogram) - Izi zimayesa ntchito yamagetsi ya ubongo.
• Kuyezetsa maso.

Kuti mudziwe zambiri, dokotala wanu angakufunseninso kuti muyesedwe kujambula zithunzi. Izi zikuphatikizapo:

• Kujambula kwa MRI (Magnetic Resonance Imaging).
• `(Mayeso a Ultrasound)`.
• Mayeso a `(X-ray)`.

Kodi pali mankhwala a PURA syndrome?

Ili ndiye vuto lalikulu kwa anthu ambiri. Kunena zoona, pakadali pano palibe mankhwala athunthu a PURA syndrome.Komabe, kuzizindikira msanga ndi kulandira chithandizo kungachepetse chiopsezo cha mavuto monga scoliosis. Madokotala angakulangizeni chithandizo chomwe chingakuthandizeni inu ndi mwana wanu kuthana ndi zizindikiro. Ndi chithandizo choyenera, mwana wanu amatha kutenga nawo mbali pazinthu zambiri momwe angathere ndikupangitsa moyo kukhala wosavuta .

Ndani angaphatikizidwe m'gulu lothandizira matenda a PURA a mwana wanu?

Ngati mwana wanu ali ndi matenda a PURA, gulu lachipatala lomwe limamuthandiza lingakhale ndi akatswiri osiyanasiyana. Izi zikutanthauza kuti palibe dokotala mmodzi yekha, koma pali anthu angapo omwe amagwira ntchito limodzi kuti apereke chithandizo chabwino kwambiri kwa mwana wanu. Gulu lotere lingakhale ndi anthu monga:

• Katswiri wa maso.
• Katswiri wa majini.
• Dokotala wodziwa bwino za dongosolo la mitsempha (katswiri wa mitsempha).
• Katswiri wa zamaganizo - munthu amene amathandiza pa ntchito za tsiku ndi tsiku.
• Dokotala wa opaleshoni ya mafupa.
• Dokotala wa ana.
• Katswiri wa zamaganizo ndi munthu amene amathandiza pa zinthu monga kuyenda ndi kuyenda.
• Dokotala wodziwa bwino za dongosolo la kupuma (pulmonologist).
• Katswiri wa matenda a chilankhulo.

Anthu onsewa amagwira ntchito limodzi popanga dongosolo la chithandizo lomwe likugwirizana bwino ndi vuto la mwanayo.

Kodi matenda a PURA amachiritsidwa bwanji?

Chithandizo cha matenda a PURA chimasiyana malinga ndi zizindikiro za mwana komanso kuopsa kwake . Ngati mwana wakhanda ali ndi matenda a PURA, nthawi zambiri amafunika kuyang'aniridwa kuchipatala ndikupatsidwa thandizo pakudya ndi kupuma.

Ana okalamba nthawi zambiri amachitiridwa motere:

• Kulankhula ndi kuchiza chinenero - Kupititsa patsogolo luso lolankhulana.
• Kuchiza thupi - Kumathandiza kuti munthu azitha kuyenda bwino.
• Nthawi zina, opaleshoni ingachitike kuti akonze zolakwika pankhope, pamtima, pachifuwa, kapena zina.

Mukhozanso kupatsa mwana wanu zinthu monga:

• Mankhwala oletsa kugunda kwa mtima.
• Zothandizira kulankhulana.
• Chithandizo cha kumeza kapena kudyetsa.
• Kuchiza thupi ndi ntchito.
• Kuchiza ndi kulankhula.
• Zipangizo zothandizira - monga ma stroller osinthika, zomangira, zolumikizira mafupa, zoyendera, kapena mipando ya olumala.

Kodi ndingatani kuti ndichepetse chiopsezo cha mwana wanga kudwala matenda a PURA?

Ichi ndi chinthu chomwe makolo ambiri amaganiza. Koma zoona zake n'zakuti, palibe njira yopewera matenda a PURA . Komanso,Sizimachitika chifukwa cha chilichonse chimene mumachita. Zimachitika chifukwa cha kusintha kwa majini (kusintha kwa majini) komwe kumachitika panthawi yomwe mwana wosabadwayo akukula. Choncho musamadzimve mlandu nazo.

Kodi chiyembekezo cha mwana yemwe ali ndi PURA syndrome ndi chotani?

Matenda a PURA ndi matenda osachiritsika omwe amakhudza moyo wonse . Ana ambiri amatha kukhala ndi vuto la kuphunzira pang'ono mpaka lalikulu komanso kuchedwa kukula. Ambiri satha kulankhula kapena kuyenda okha . Komabe, kumbukirani kuti mankhwala othandiza angapatse mwana wanu moyo wabwino . Ndi chithandizo, nawonso akhoza kukhala osangalala ndikukula mokwanira.

Kodi ndi liti pamene ndiyenera kufunsa uphungu kwa dokotala wa mwana wanga?

Kuzindikira msanga matenda a PURA n'kofunika kwambiri pothana ndi zizindikiro ndikuchepetsa chiopsezo cha mavuto . Madokotala mwina adzapita kukayezetsa mwana wanu pafupipafupi kuti awone thanzi lake ndi zizindikiro zake. Dokotala wanu adzakuthandizani kupanga dongosolo losamalira mwana wanu lomwe likugwirizana ndi zosowa zake komanso zolinga zake.

Ndizachibadwa kumva kutopa komanso kuda nkhawa mukalandira matenda monga PURA syndrome. Ili ndi matenda osowa kwambiri omwe amakhudza dongosolo la mitsempha, zomwe zimayambitsa mavuto aakulu a kuphunzira, kuchedwa kukula, komanso nthawi zambiri khunyu. Komabe, ndi kuphatikiza koyenera kwa chithandizo, mwana wanu akhoza kukhala ndi moyo wabwino . Lankhulani ndi dokotala wanu za mankhwala othandiza omwe angapangitse kusiyana pamene mwana wanu akukula. Simuli nokha , ndipo pali madokotala, akatswiri azachipatala, ndi ena ambiri omwe angakuthandizeni paulendowu.

Pomaliza, zinthu zofunika kwambiri zomwe muyenera kukumbukira (Uthenga Wopita Nawo Kunyumba)

Ngakhale kuti matenda a PURA ndi matenda osowa kwambiri omwe amapezeka m'majini, ndikofunikira kwambiri kuwadziwa.

• Izi zimakhudza kwambiri mitsempha ndipo zingayambitse matenda monga kuchedwa kukula, mavuto a kuphunzira, komanso khunyu.
• Kuzindikira msanga matendawa ndi kuyamba kulandira chithandizo choyenera kumathandiza kwambiri pakukweza moyo wa mwana.
• Ngakhale kuti palibe mankhwala athunthu a izi, pali njira zosiyanasiyana zochepetsera zizindikiro ndikuchepetsa mavuto .
• Gulu la madokotala ochokera kwa akatswiri osiyanasiyana amagwira ntchito limodzi kuti apatse mwanayo chithandizo chofunikira.
• Palibe njira yopewera vutoli, ndipo monga makolo, simuyenera kudzimva kuti ndinu wolakwa .
• Ngati muli ndi nkhawa iliyonse yokhudza kukula kapena thanzi la mwana wanu, musachite mantha ndipo funsani upangiri wa dokotala nthawi yomweyo . Ndicho chinthu chabwino kwambiri chomwe mungachite.

Kumbukirani, mwana aliyense ndi wamtengo wapatali, ndipo mwana aliyense ayenera kukondedwa ndi kusamalidwa bwino.

'Matenda a PURA, matenda a majini, dongosolo lamanjenje, kuchedwa kukula, khunyu, thanzi la ana, matenda osowa