Kodi mwana wanu sakupuma bwino? Tiyeni tiphunzire za Congenital Central Hypoventilation Syndrome (CCHS)!

Nthawi zina, makolo amada nkhawa pang'ono akaona kusintha pang'ono m'mene ana awo amapumira, sichoncho? Ndizachibadwa kumva mantha pang'ono, makamaka ngati mwana wanu akuoneka kuti akupuma movutikira kapena akupuma kwambiri akamagona. Lero, tikambirana za vuto losowa lomwe aliyense ayenera kudziwa. Madokotala amatcha `Congenital Central Hypoventilation Syndrome`, kapena tidzalitcha `(CCHS)` mwachidule.

Kodi CCHS ndi chiyani? Tiyeni timvetse bwino lomwe.

Mwachidule, `(CCHS)` ndi vuto losowa lomwe limapezeka pobadwa ndipo limakhudza thupi lonse. Chofunika kwambiri ndichakuti thupi silipuma mokwanira, kapena kuchuluka kwa mpweya kumachepa. Vutoli limakhala lalikulu kwambiri tikagona. Madokotala amatcha izi `(Hypoventilation)` (hypoventilation). Tangoganizirani, pamene nthawi zambiri timapuma, mapapu athu amadzaza ndi mpweya ndikufinya kuti atenge mpweya ndikutulutsa mpweya woipa. Koma mwa munthu amene ali ndi `(CCHS)`, kupuma kumeneku, makamaka kupuma komwe thupi limalamulira mwachibadwa, sikumachitika bwino. Zotsatira zake, kuchuluka kwa mpweya m'magazi kumachepa ndipo kuchuluka kwa mpweya woipa kumawonjezeka mosafunikira. Izi zitha kukhudza machitidwe ambiri m'thupi.

Matenda a `(CCHS)` awa amakhudza dongosolo lathu la mitsempha lodziyimira pawokha la thupi lathu `(Autonomic Nervous System)` . Tsopano mwina mukudabwa kuti dongosolo ili la mitsempha lodziyimira pawokha ndi chiyani. Tangoganizirani, tikamayendetsa galimoto, timachita zinthu monga kusintha 'giya' ndi `brake' mwadala. Koma zinthu zina m'thupi lathu zimachitika zokha, ndipo sitimaganizira nkomwe za izo. Monga kupuma (mapapo athu amagwira ntchito ngakhale titagona!), kugaya chakudya, kugunda mtima wathu, kulamulira kutentha kwa thupi lathu, thukuta, ndi kupindika kwa iris pamene kuwala kukugunda maso athu. Zonsezi zimayendetsedwa ndi dongosolo la mitsempha lodziyimira pawokha. Tikakhala ndi `(CCHS)`, njira izi zodziwikiratu, zofunika kwambiri zimakhudzidwa. Chifukwa chake, kuwonjezera pa kupuma, mavuto amathanso kuchitika m'zinthu monga:

• Kulamulira kuthamanga kwa magazi.
• Ntchito ya matumbo.
• Kugunda kwa mtima.
• Kulamulira kutentha kwa thupi.

Matendawa amatchedwa ``(CCHS)`` ndi mayina ena angapo. Dokotala wanu angagwiritsenso ntchito limodzi mwa mayina awa, choncho ndi bwino kuwadziwa:

• "Congenital Central Hypoventilation"
• "Kulephera Kobadwa Nako kwa Kulamulira Kodzilamulira"
• "Kulephera Kobadwa Nako kwa Kupuma"
• Matenda a Haddad
• Nthawi zina amatchedwanso 'Ondine Syndrome', 'Ondine-Hirschsprung Disease', kapena 'Ondine's Curse'.

Kodi CCHS ndi yofala bwanji?

Ndipotu, CCHS ndi vuto losowa kwambiri.Tangoganizirani, ndi milandu yochepa kwambiri, pafupifupi 1000 mpaka 1200, yomwe yapezeka padziko lonse lapansi. Komabe, asayansi amakhulupirira kuti nthawi zina, chifukwa cha matenda osapezeka a `(CCHS)`, pali kukayikiridwa kuti imfa zina zadzidzidzi za makanda, zomwe ndi `Sudden Infant Death Syndrome (SIDS),` zingachitike. Izi zikutanthauza kuti, ngakhale kuti zingakhale `(SIDS)`, chifukwa chake chingakhalenso `(CCHS)`. Chifukwa chake, ndikofunikira kwambiri kudziwa izi.

Kodi zizindikiro za CCHS ndi ziti? Kodi mumazindikira bwanji?

Zizindikiro zoyamba za CCHS nthawi zambiri zimawonekera munthu akangobadwa kapena mkati mwa miyezi ingapo yoyambirira ya moyo wake. Izi ndi zizindikiro zazikulu zomwe zingawonekere:

• Kusintha kwa mtundu wa milomo kapena khungu (Cyanosis): Izi zikufanana ndi kusowa kwa mpweya. Izi zimaonekera makamaka mwana akagona.
• Kupuma kosakhazikika munthu akagona (Hypoventilation): Kupuma kungamveke ngati kutsika kwambiri kapena mwachangu. Nthawi zina kungawoneke ngati kupuma kumasiya kwakanthawi.

Chofunika: Ngati muwona zizindikiro izi, muyenera kuonana ndi dokotala nthawi yomweyo.

Koma nthawi zina, ngati vutoli silili lalikulu kwambiri, zizindikirozi zingawonekere mtsogolo. Kapena, zizindikiro zina zingayambe. Yang'anani ngati mwana wanu ali ndi chimodzi mwa izi:

• Kusakhazikika kwa maso: Mwachitsanzo, momwe iris imayankhira kuwala ndi phokoso zingachepe, maso angasokonezeke (strabismus), kapena momwe mumaonera patali zingasinthe (kusintha kwa kuzindikira kwakuya).
• Kuchepetsa ululu: Ngakhale kuvulala pang'ono kungakhale kowawa pang'ono.
• Kusowa kwa mahomoni okula: Kukula kwa mwana kumatha kukhala kochedwa poyerekeza ndi ana ena.
• Kungotuluka thukuta kwambiri popanda chifukwa.
• Mavuto a m'mimba (GI): Kubwerera m'mimba, kudzimbidwa pafupipafupi, ndipo nthawi zina kutsekeka kwa matumbo ang'onoang'ono kapena kutsekeka kwa matumbo akuluakulu. Matenda a Hirschsprung (CCHS) amathanso kuwoneka ndi CCHS.
• Kutentha Kochepa kwa Thupi: Thupi likhoza kumva kuzizira nthawi zonse.
• Mavuto a mitsempha: Zinthu monga mavuto a kuphunzira.
• Kuvuta kulamulira kugunda kwa mtima ndi kuthamanga kwa magazi.

Nchifukwa chiyani CCHS iyi imachitika? Kodi chifukwa chake ndi chiyani?

Chabwino, tsopano tiyeni tiwone chifukwa chake vutoli lotchedwa `(CCHS)` limachitika. Chifukwa chachikulu cha izi ndi kusintha kwa majini athu. Jini iyi imatchedwa `PHOX2B` (Fox-2-B) jini.Jini iyi ya `PHOX2B` ndi yofunika kwambiri popanga mapuloteni omwe amathandiza maselo amitsempha, makamaka maselo a dongosolo la mitsempha lodziyimira pawokha lomwe tidalankhula, kukula bwino akamakula m'mimba ali mwana wosabadwayo.

Kwa anthu ambiri omwe ali ndi CCHS, kusintha kwa majini kumeneku ndi kusintha kwatsopano, kosakhazikika. Izi zikutanthauza kuti kusinthaku sikuchokera kwa mayi kapena bambo, koma ndi kusintha kwatsopano m'thupi la mwana. Komabe, nthawi zina, kumatha kufalikira kuchokera ku mibadwomibadwo kupita ku mibadwomibadwo. Izi zikutanthauza kuti kholo limodzi lili ndi kusintha kwa majini kumeneku ndipo mwana akhoza kukhala nako.

Kodi mungadziwe bwanji ngati muli ndi CCHS? (Kuzindikira)

Njira yokhayo komanso yotsimikizika yotsimikizira ngati muli ndi CCHS ndikuchita mayeso a majini kuti muwone ngati pali kusintha kwa majini a PHOX2B. Iyi ndiyo njira yokhayo yomwe madokotala angatsimikizire 100% ngati muli ndi vutoli kapena ayi.

Komabe, madokotala angachite mayeso ena angapo kuti amvetse zotsatira za vutoli pa thupi ndikupeza chomwe chimayambitsa zizindikirozo. Mwachitsanzo:

• Kuyezetsa Magazi: Kuyang'ana zinthu monga mpweya ndi mpweya woipa m'thupi.
• Ngati muli ndi zizindikiro za vuto la m'mimba, muwafufuze ndi colonoscopy , mwina ndi biopsy .
• `Echocardiogram` yowunikira momwe mtima ukugwira ntchito.
• Mayeso ojambulira zithunzi monga X-ray, CT scan, kapena MRI kuti ayang'ane mkati mwa chifuwa ndi m'mimba kuti awone ngati pali zopinga zilizonse.
• Mayeso a maso kuti aone momwe maso alili.
• Kuphunzira za Kugona : Iyi ndi mayeso ofunikira kwambiri. Pachifukwa ichi, mwanayo amagonekedwa m'chipinda chapadera kuchipatala ndipo zinthu zosiyanasiyana monga kupuma, kugunda kwa mtima, ndi kuchuluka kwa mpweya zimawunikidwa ndi makina.

Kodi CCHS ingachiritsidwe kwathunthu?

Funso lomwe anthu ambiri amafunsa komanso kuganizira m'maganizo mwawo ndi lakuti kodi `(CCHS)` ingachiritsidwe kwathunthu. Kunena zoona, pakadali pano palibe mankhwala enieni a `CCHS`. Ndi vuto la moyo wonse. Koma, musadandaule. Chithandizo cholinga chake ndi kuchepetsa zizindikiro, kuchepetsa mavuto omwe angakhalepo, ndikuthandiza wodwalayo kukhala ndi moyo wabwino, womasuka, komanso wabwino momwe angathere.

Kodi chithandizo cha munthu amene ali ndi CCHS ndi chotani?

Anthu ambiri omwe ali ndi CCHS amafunika thandizo la mpweya kwa moyo wawo wonse.Ndikofunikira. Izi zimatchedwa `Ventilator`. Anthu ena amafunikira tsiku lonse, nthawi zonse. Koma ena amafunikira kokha akagona. Chomwe `(Ventilator)` ichi chimachita ndikuthandiza thupi kupuma mu kamvekedwe kena, ngati pakufunika. Izi zitha kusunga mulingo wa okosijeni m'magazi moyenera ndikuletsa kuchuluka kwa kaboni dayokisaidi.

Kuphatikiza apo, palinso mankhwala ena othandizira. Mankhwalawa amasiyana malinga ndi zizindikiro za munthu aliyense:

• Mavuto a maso angathe kuthetsedwa ndi magalasi, magalasi olumikizirana, kapena opaleshoni. Izi zingathandizenso kuteteza maso ku kuwala kochuluka.
• Chithandizo cha Kukula kwa Hormone (GHT) cha kukula kochedwa.
• Mankhwala ochepetsa zizindikiro za m'mimba (monga `Reflux`, `Costipation`).
• Lamulirani kuthamanga kwa magazi ndi kugunda kwa mtima pogwiritsa ntchito mankhwala kapena njira zina zachipatala .
• Mayeso owunikira nthawi zonse amachitidwa kuti azindikire mavuto ena okhudzana ndi thanzi msanga.

Njira yochizira iyi ingafunike thandizo la akatswiri osiyanasiyana . Tangoganizirani, pali katswiri yemwe ali woyenera mavuto a munthu aliyense. Ndikofunikira kwambiri kuti akatswiri osiyanasiyana ngati awa agwirizane ndikuchita zinthu limodzi. Chifukwa `(CCHS)` si chinthu chomwe chimakhudza gawo limodzi lokha la thupi. Chifukwa chake munthu aliyense akagwiritsa ntchito ukatswiri wake kuthetsa mavuto osiyanasiyana a mwana, chisamaliro chomwe mwanayo amalandira chimakhala chokwanira. Mwachitsanzo:

• Madokotala a matenda a mtima.
• Matenda a khutu, mphuno, ndi pakhosi amachiritsidwa ndi akatswiri a ENT .
• Akatswiri a Endocrinologists ndi akatswiri mu endocrine glands omwe amakumana ndi mavuto okhudzana ndi mahomoni.
• Akatswiri a matenda a m'mimba ndi akatswiri pa matenda a m'mimba omwe amakhudza mavuto a m'mimba.
• Akatswiri a za ubongo ndi akatswiri pa zotsatira za ubongo ndi kuphunzira.
• Madokotala a maso amachiritsa zizindikiro zokhudzana ndi maso.
• Madokotala osamalira odwala oyambira (monga madokotala a ana).
• Akatswiri a matenda a m'mapapo ndi akatswiri pa mavuto a kupuma .
• Akatswiri a Kulankhula ndi Kulankhula.
• Ogwira Ntchito Zachitukuko (amapatsa banja chithandizo chofunikira chamaganizo ndi chikhalidwe).

Kodi pali njira yopewera CCHS?

Nthawi zambiri tikamalankhula za matenda, timalankhulanso za momwe tingadzitetezere ku matendawa. Komabe, pankhani ya `(CCHS)`, palibe njira yotsimikizika yomwe yapezeka yopewera kufalikira kwake.Popeza makamaka imayamba chifukwa cha majini (kusintha kwa majini a `PHOX2B`), zimakhala zovuta kuzipewa. Komabe, ngati wina m'banjamo ali ndi `(CCHS)`, ndi bwino kulankhula ndi dokotala za upangiri wa majini ndi kuyezetsa ena.

Kodi moyo udzakhala bwanji ndi CCHS? Zinthu zofunika kudziwa

Nthawi yoti munthu akhale ndi moyo komanso chilema chomwe chingakhalepo kwa munthu amene ali ndi CCHS chingasiyane kwambiri. Zimatengera zinthu monga kuopsa kwa matendawa, nthawi yomwe imatenga kuti chithandizo chiyambe, komanso kupambana kwa chithandizocho .

Komabe, ngati atapezeka msanga ndi kuchiritsidwa moyenera komanso mosalekeza , anthu omwe ali ndi CCHS yofatsa akhoza kukhala ndi moyo wopambana, wopindulitsa, komanso wachimwemwe. Angapite kusukulu, kusewera, komanso kugwira ntchito akakula. Komabe, ngati matendawa ndi oopsa, kapena ngati chithandizo sichinaperekedwe bwino kapena chachedwa, kulumala kwakukulu, mavuto azaumoyo, komanso kufupikitsidwa kwa moyo ndizotheka. Chifukwa chake , kuzindikira matenda nthawi yake komanso kulandira chithandizo nthawi zonse ndikofunikira kwambiri.

Izi ndizofunikira kwambiri kukumbukira: Anthu omwe ali ndi CCHS ali ndi mwayi waukulu wopeza mitundu ina ya zotupa za mitsempha. Chifukwa chake, ndikofunikira kuyezetsa nthawi zonse mitundu iyi ya zotupa. Zikapezeka msanga, zimakhala zosavuta kuchiza. Muyenera kusamala kwambiri ndi mitundu iyi ya zotupa:

• Neuroblastoma
• Ganglioneuroblastoma
• `Ganglioneuroma`

Choncho, musaiwale kupitiriza kuyesedwa monga momwe dokotala akulangizira.

Mafunso ofunikira oti mufunse dokotala wanu okhudza CCHS

Ngati inu kapena wina m'banja mwanu mwapezeka ndi matenda a CCHS, onetsetsani kuti mwafunsa dokotala mafunso awa. Mafunso awa adzakuthandizani kumvetsetsa vutoli ndikukonzekera njira zotsatirazi:

• "Kodi matenda a `(CCHS)' a mwana wanga/wanga ndi oopsa bwanji?"
• "Ndi machitidwe ati a thupi (monga kupuma, mtima, matumbo) omwe amakhudzidwa ndi vuto la `(CCHS)` la mwana wanga/wanga?"
• "Ndi akatswiri amtundu wanji omwe ndiyenera/tidzawaona? Ndiyenera kuwaona kangati?"
• "Kodi ine/mwana wanga ndikufunika `Ventilator`? Ngati ndi choncho, kodi ndiyenera kuigwiritsa ntchito nthawi zonse, kapena ndikagona kokha?"
• "Ndiyenera kuyezetsa kangati maso anga, mtima wanga, mapapo anga, kugaya chakudya, ndi ziwalo zina za thupi langa?"
• "Ndi kangati komwe ndimafunika kuyezetsa matenda a khansa omwe ndatchula kale aja?"
• "Kodi ndi bwino kuti banja langa lonse (monga abale anga, makolo anga) lipite kukayezetsa majini?"

Pomaliza, zinthu zoti muzikumbukira (Uthenga Wopita Nawo Kunyumba)

Ngakhale kuti CCHS ndi vuto loopsa komanso losowa, lingathe kuthetsedwa ngati mwadziwitsidwa bwino ndikuyamba kulandira chithandizo pa nthawi yake. Chofunika kwambiri ndikufunsa upangiri wa dokotala nthawi yomweyo mukangozindikira zizindikiro, makamaka ngati mwaona china chake chachilendo pa kapumidwe ka mwana wanu, monga cyanosis. Chofunika kwambiri si kuchita mantha, koma kuchitapo kanthu mwamsanga.

Kukhala ndi vutoli kungakhale kovuta kwa mabanja, n’zoona. Koma kumbukirani kuti simuli nokha. Madokotala, anamwino, akatswiri azaumoyo, ndi akatswiri ena azaumoyo alipo kuti akuthandizeni ndikutsogolerani inu ndi mwana wanu. Ndi chisamaliro choyenera chachipatala, chisamaliro chachikondi cha banja, komanso malingaliro abwino, mwana yemwe ali ndi CCHS akhoza kukhala moyo wosangalala komanso wabwinobwino momwe angathere. Musaope kufunsa mafunso, kufunafuna chidziwitso, ndikupatsa mwana wanu zomwe akufuna.

CCHS , Congenital Central Hypoventilation Syndrome, congenital respiratory distress syndrome, autonomic nervous system, PHOX2B gene, respiratory support, makanda, cyanosis, genetic testing