Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tikambirane za Noonan Syndrome

Monga mayi kapena bambo, mwina nthawi zonse mumakhala ndi nkhawa ndi thanzi la mwana wanu komanso kukula kwake. Nthawi zina zimakhala zachilendo kumva mantha pang'ono mukaona kusintha pang'ono pa mawonekedwe a mwana wanu kapena mavuto a chitukuko. Lero tikambirana za vuto lofunika kwambiri la majini lomwe makolo otere ayenera kudziwa. Imeneyo ndi vuto lotchedwa Noonan Syndrome.

Kodi Noonan Syndrome ndi chiyani?

Mwachidule, Noonan Syndrome ndi matenda a majini . Amayambitsidwa ndi kusintha kwa majini m'thupi lathu. Matendawa amatha kukhudza mwana wanu m'njira zosiyanasiyana. Ana ena amabadwa ndi vutoli, koma zizindikiro zake zimakhala zochepa kwambiri. Izi zikutanthauza kuti akhoza kukhala moyo wabwinobwino popanda mavuto akulu. Komabe, ana ena akhoza kukhala ndi mavuto ambiri .

Pa vutoli, nkhope ya mwana ikhoza kukhala ndi zizindikiro zina . Mwachitsanzo, mphumi yayitali, maso otambasuka, makutu otsika, ndi khosi lalifupi. Komanso, ana ambiri omwe ali ndi Noonan Syndrome ndi afupiafupi poyerekeza ndi msinkhu wawo, zomwe zikutanthauza kuti angawoneke afupiafupi . Mavuto a maso, minofu yochepa, ndi matenda a mtima obadwa nawo nawonso ndi ofala.

Koma nkhani ndi iyi, palibe mankhwala a Noonan Syndrome. Koma musadandaule! Dokotala wanu angakupatseni malangizo omwe mukufunikira kuti mwana wanu akhale wathanzi momwe angathere. Angagwirenso ntchito nanu kuti apewe kapena kuzindikira mavuto omwe angabwere chifukwa cha vutoli. Kenako mwana wanu akhoza kukhala ndi moyo wotanganidwa komanso wotanganidwa .

Ndani amadwala matendawa? Kodi ndi ofala bwanji?

Matenda a Noonan Syndrome ndi matenda omwe angachitike munthu akangobadwa . Sitingathe kuneneratu kuti ndani adzadwala matendawa ndi ndani sadzadwala. Komabe, malinga ndi ziwerengero, pafupifupi 50% ya anthu omwe ali ndi matenda a Noonan Syndrome amalandira matendawa kuchokera kwa m'modzi mwa makolo awo. Nthawi zambiri, munthu amene ali ndi matenda a Noonan Syndrome amakhala ndi mwayi wa 50% wopatsira mwana wawo matendawa.

Matenda a Noonan ndi matenda ofala kwambiri m'majini . Ndiye kuti, ndi ofala pang'ono kuposa matenda ena osowa kwambiri m'majini. Mwachidule, akuti munthu m'modzi mwa anthu 1,000 ndi 2,500 aliwonse akhoza kukhala ndi vutoli.

Kodi n’chiyani chimayambitsa matenda a Noonan Syndrome?

Vutoli limayamba chifukwa cha kusowa kwa ma enzyme omwe amathandiza minofu ya thupi lathu kukula ndikukula.Zimayambitsidwa ndi kusintha kwa majini ena (kusintha kwa majini). Makamaka, mapuloteni opangidwa ndi majini osinthidwawa amakhala akugwira ntchito kwa nthawi yayitali kuposa momwe ayenera kuchitira. Izi zimalepheretsa maselo kukula ndi kugawikana bwino.

Pali njira ziwiri zomwe Noonan Syndrome ingachitikire:

• Cholowa: Mwana amalandira vutoli kuchokera kwa kholo limodzi.
• Kusintha kwa majini mwadzidzidzi: Matenda omwe amabwera chifukwa cha kusintha kwa majini, popanda aliyense m'banjamo amene wakhalapo ndi vutoli kale.

Kuyezetsa majini komwe kukuchitika panopa kungathe kuzindikira vuto la majini mwa anthu pafupifupi 80% omwe ali ndi Noonan Syndrome. Komabe, ofufuza sakudziwabe chomwe chimayambitsa vutoli mwa anthu ena otsala.

Kodi pali matenda ena ofanana ndi a Noonan Syndrome?

Inde, Noonan Syndrome ndi matenda omwe amapezeka m'gulu la matenda ena ofanana otchedwa RASopathies . Matenda onsewa amayamba chifukwa cha zinthu zosazolowereka monga momwe maselo amakulira ndikukula. Chifukwa chake, zizindikiro zawo zimafanana kwambiri.

Matenda ena omwe ali m'gulu la `RASopathies` ndi awa:

• Matenda a mtima ndi khungu
• Matenda a Costello
• Mtundu wa Neurofibromatosis 1 (NF1)
• Matenda a Legius
• Matenda a Noonan okhala ndi ma lentigines ambiri (omwe kale ankadziwika kuti LEOPARD syndrome)
• Matenda a Turner

Kodi zizindikiro za Noonan Syndrome ndi ziti?

Zizindikiro za Noonan Syndrome zimatha kusiyana malinga ndi munthu. Anthu ena amakhala ndi zizindikiro zochepa kwambiri, pomwe ena amakhala ndi zizindikiro zoopsa zomwe zingawopseze moyo. Zimatengera gawo la thupi la mwana lomwe lakhudzidwa. Zizindikiro zambiri zimayamba mwana wosabadwayo akamakula m'mimba, kapena zimawonekera mwana asanakwanitse zaka 11 .

Mawonekedwe a nkhope ooneka

Nkhope zomwe zimaoneka mwa ana omwe ali ndi Noonan Syndrome zimatha kuzimiririka pang'onopang'ono mwanayo akakula . Izi zikutanthauza kuti, zimatha kuchepa poyerekeza ndi poyamba. Izi zitha kuphatikizapo:

• Kukhala ndi mphumi yayitali .
• Kukhala ndi mpata wozama pakati pa mlomo wapamwamba.
• Chikope chofooka (ptosis).
• Kukhala ndi mphuno yosalala komanso nsonga yokulirapo.
• Makutu ali pansi kuposa masiku onse.
• Maso abuluu kapena obiriwira pang'ono.
• Strabismus ndi vuto lomwe mtunda pakati pa maso umawonjezeka ndipo maso amapendekeka pansi, nthawi zina amatembenukirana.

Makhalidwe ena akuthupi

Kuwonjezera pa nkhope, palinso zinthu zina zambiri zodziwika bwino:

• Kutupa kwa zala kapena mapazi.
• Misomali yokhala ndi mawonekedwe kapena mtundu wosiyana.
• Khosi lalifupi komanso tsitsi lochepa kumbuyo kwa khosi, mwina ndi ulusi m'mbali mwa khosi.
• Kufupika kwa msinkhu (kufupika kwa kutalika malinga ndi msinkhu).
• Chifuwa chomira (pectus excavatum) kapena fupa la pachifuwa (pectus carinatum).

Matenda a mtima

Ana ambiri omwe ali ndi Noonan Syndrome akhoza kukhala ndi matenda a mtima obadwa nawo . Ana ena angafunike chithandizo chadzidzidzi cha matenda a mtima awa. Ena sangayambe kusonyeza zizindikiro mpaka atakula. Matenda a mtima ofala kwambiri ndi awa:

• Chilema cha septal cha Atrial.
• Hypertrophic cardiomyopathy.
• Kutsekeka kwa mitsempha ya m'mapapo.

Mavuto ena omwe angakhalepo

Kuwonjezera pa izi, Noonan Syndrome ingayambitse mavuto ena angapo:

• Kuvutika kupuma, mwachitsanzo, chifukwa cha kufewa kwa kholingo (laryngomalacia).
• Lymphedema (kusonkhanitsa madzi a lymph m'manja kapena m'miyendo).
• Kuchedwa kwa chitukuko .
• Kutuluka magazi kwambiri kuposa masiku onse kapena kuvulala mosavuta.
• Mavuto a kudya ali mwana.
• Ma testicles osatuluka m'mimba mwa anyamata. Ngati sathandizidwa, izi zingakhudze mavuto a kubereka.
• Scoliosis.
• Mavuto a maso kapena vuto la kumva (kulephera kumva).
• Zilema zobadwa nazo zokhudzana ndi impso.

Ndi mavuto ena ati omwe amabwera chifukwa cha Noonan Syndrome?

Ana ambiri omwe ali ndi Noonan Syndrome amakula pang'onopang'ono kuposa masiku onse akamafika msinkhu waunyamata. Komabe, amabadwa ali ndi kutalika kwabwinobwino. Pafupifupi 25% ali ndi vuto la kuphunzira. Ochepa mwa iwo angakhalenso ndi vuto la nzeru. Pakati pa 10% ndi 15% ya ana omwe ali ndi Noonan Syndrome angafunike maphunziro apadera. Vutoli lingayambitsenso kuchedwa kwa chitukuko, mavuto a khalidwe, kapena mavuto olankhula.

Ana ena omwe ali ndi Noonan Syndrome amakhala ndi juvenile myelomonocytic leukemia (JMML) , mtundu wosazolowereka wa leukemia womwe umapezeka ali ana.Chiwopsezo chotenga khansa ya m'mawere kapena khansa zina za ana chikhoza kuwonjezeka pang'ono. Komabe, chiopsezo chonsecho chikuyembekezeka kukhala pafupifupi 4% akafika zaka 20. Chifukwa chake, kumbukirani, ndi chiopsezo chochepa kwambiri .

Kodi matenda a Noonan Syndrome amapezedwa bwanji?

Dokotala wanu angaganize kuti ali ndi matenda a Noonan Syndrome atatha kumufufuza ndikuwonanso zizindikiro za mwana wanu. Kuti atsimikizire kuti ali ndi matendawa ndikuchotsa matenda ena, dokotala wanu angakulangizeni kuti muyese mayeso a majini .

Mayeso ena angapo angachitike pa izi:

• Kuyesa magazi kwathunthu (CBC).
• X-ray ya pachifuwa.
• Kujambula kwa CT.
• Echocardiogram ndi njira yoyezera momwe mtima umagwirira ntchito.
• Kuyesa kwa EKG (Electrocardiogram (EKG)).
• Kuyesedwa kwa ultrasound.

Kodi pali mankhwala a Noonan Syndrome?

Ayi, palibe mankhwala a Noonan Syndrome. Koma musadandaule! Pali mankhwala othandiza omwe angakuthandizeni inu ndi mwana wanu kuthana ndi zizindikiro.

Kodi Noonan Syndrome imachiritsidwa bwanji?

Gulu lachipatala la mwana wanu lidzapanga dongosolo la chithandizo cha Noonan Syndrome kutengera zizindikiro za mwana wanu komanso kuopsa kwake. Mwana wanu angalandire chithandizo monga:

• Zipangizo zothandizira: monga magalasi kapena zothandizira kumva.
• Chithandizo cha khalidwe kapena kulankhula .
• Thandizo la maphunziro kwa anthu omwe ali ndi vuto la kuphunzira.
• Mankhwala a matenda a mtima a mwana, mavuto otuluka magazi, kapena kukula pang'onopang'ono .
• Chithandizo cha kukula kwa mahomoni.
• Mankhwala othandizira monga compression therapy, omwe amapereka mpumulo ku matenda monga lymphedema.

Nthawi zina, dokotala wanu angakulangizeni opaleshoni . Kumbukirani kuti kuzindikira msanga ndikofunikira kwambiri kuti mupeze chithandizo chogwira mtima komanso chisamaliro chotsatira.

Ndani angaphatikizidwe mu gulu la chithandizo cha Noonan Syndrome la mwana wanga?

Kuwonjezera pa dokotala wanu wa ana, gulu lachipatala lomwe likuyang'anira thanzi la mwana wanu lingakhale ndi akatswiri monga:

• Katswiri wa mankhwala a mitsempha ya magazi.
• Dokotala wodziwa bwino za dongosolo la mitsempha (ubongo, msana, ndi mitsempha) (katswiri wa za mitsempha).
• Katswiri wa khansa.
• Dokotala wa maso.
• Katswiri wa majini.
• Katswiri wa matenda a mtima.
• Katswiri wa Endocrinologist.
• Dokotala wa matenda a minyewa.
• Katswiri wa khungu (katswiri wa khungu, tsitsi, ndi misomali).

Gulu lanu losamalira lidzapereka chithandizo choyenera kwambiri kwa mwana wanu. Iwo adzayang'aniranso thanzi la mwana wanu ndikusintha mankhwala kapena njira yothandizira, kutengera momwe mwanayo alili komanso zotsatirapo zake.

Kodi pali chilichonse chomwe ndingachite kuti ndichepetse chiopsezo cha mwana wanga ku matenda a Noonan Syndrome?

Ayi. Palibe chomwe mungachite kuti muchepetse chiopsezo cha mwana wanu kukhala ndi Noonan Syndrome. Imayambitsidwa ndi kusintha kwa majini . Komabe, ngati wina m'banja mwanu ali ndi Noonan Syndrome, mutha kulankhula ndi dokotala wanu za kuyezetsa majini a mwana asanabadwe, zomwe zingachitike panthawi ya mimba .

Kodi tsogolo la anthu omwe ali ndi Noonan Syndrome ndi lotani?

Anthu ambiri omwe ali ndi Noonan Syndrome amakhala ndi moyo wathanzi komanso wodziyimira pawokha.

Gulu losamalira mwana wanu lidzagwira ntchito nanu pothana ndi zizindikiro za mwana wanu komanso kupewa mavuto. Choncho, ndikofunikira kukhala ndi chiyembekezo.

Kodi ndi liti pamene muyenera kupeza upangiri wa dokotala wa Noonan Syndrome?

Ngati Noonan Syndrome imayambitsa matenda aakulu a mtima obadwa nawo , opaleshoni ndi kuyang'aniridwa kosalekeza kungakhale kofunikira kuti mwana wanu akhale wathanzi komanso wotetezeka. Dokotala wanu akhoza kukambirana nanu njira zochiritsira mwamsanga komanso kwa nthawi yayitali.

Ndizachibadwa kuchita mantha mwana wakhanda kapena mwana amene akukula akapezeka ndi matenda a zachipatala. Komabe, ana ambiri omwe amapezeka ndi matenda a Noonan Syndrome amakhala ndi zizindikiro zochepa . Ndipo amapitiriza kukhala ndi moyo wokangalika. Lankhulani ndi dokotala wanu za mankhwala othandiza kapena njira zosamalira mwana wanu zomwe zimagwirizana ndi zosowa zake. Chithandizo choyambirira chingathandize kuchepetsa nkhawa yanu ndikuthandizira mwana wanu kupeza zotsatira zabwino kwambiri pa thanzi lake.

Tiyeni tikumbukire zinthu zofunika kwambiri (Uthenga Wopita Nawo Kunyumba)

Chabwino, tiyeni tikambirane mfundo zofunika kwambiri kuchokera pa zomwe takambirana:

• Matenda a Noonan ndi matenda omwe amabwera chifukwa cha majini .
• Zizindikiro za izi zimasiyana , zina zimakhala zochepa, zina zimakhala zoopsa pang'ono.
• Mungathe kuona zinthu monga nkhope yapadera, kutalika kochepa, ndi matenda a mtima.
• Ngakhale kuti palibe mankhwala athunthu, pali mankhwala othandiza omwe angathandize kuthetsa zizindikiro .
• Ndikofunikira kwambiri kuzindikira matendawa ndikuyamba kulandira chithandizo msanga .
• Gulu la madokotala odziwa bwino ntchito lithandiza mwana wanu.
• Ana ambiri omwe ali ndi Noonan Syndrome amakhala ndi moyo wosangalala komanso wotanganidwa .

Choncho, ngati mwana wanu ali ndi zizindikiro izi, musachite mantha, pitani kwa dokotala mwamsanga ndipo mupeze upangiri. Adzakupatsani thandizo lonse lomwe mukufuna.

Matenda a Noonan , matenda a majini, matenda a mtima obadwa nawo, kuchedwa kukula, mawonekedwe a nkhope, thanzi la ana, kuyezetsa majini