Kodi mukudziwa za vuto losowa ili? Matenda a mtima ndi khungu

Kodi mudamvapo za matenda a Cardiofaciocutaneous Syndrome, kapena CFC Syndrome monga momwe timatchulira mwachidule? Ndi matenda osowa, kutanthauza kuti si matenda omwe amakhudza aliyense. Koma amatha kukhudza ziwalo zingapo za thupi lathu. Amakhudza kwambiri mtima (cardio-), nkhope (facio-), ndi khungu ndi tsitsi (cutaneous). Sikuti zokhazo, komanso vutoli lingayambitsenso kuchedwa kwa chitukuko ndi mavuto a kukula kwa nzeru mwa ana. Chifukwa chake, tiyeni tikambirane za izi mwatsatanetsatane, sichoncho?

Kodi matenda a mtima (CFC Syndrome) ndi chiyani kwenikweni?

Mwachidule, uwu ndi matenda a majini . Izi zikutanthauza kuti, amayamba chifukwa cha kusintha kwa majini athu. Uwu ndi matenda omwe ali m'gulu la matenda otchedwa `RASopathy`. `RASopathies` ndi gulu la matenda a majini omwe amayamba chifukwa cha vuto la `RAS panjira`, momwe maselo m'thupi lathu amalankhulirana. Taganizirani izi ngati maselo m'thupi lathu amatumizirana mauthenga ang'onoang'ono. Ngati kusinthana mauthenga kumeneku sikuchitika bwino, mavuto osiyanasiyana angabuke.

Ponena za kuchuluka kwa matenda a CFC, kwenikweni ndi osowa kwambiri . Malipoti ena akusonyeza kuti matendawa amakhudza pafupifupi mwana m'modzi mwa ana 810,000. Zolemba zachipatala zimatchula milandu mazana angapo okha. Komabe, asayansi amakhulupirira kuti chiwerengerochi chikhoza kukhala chokwera kwambiri. Izi zili choncho chifukwa nthawi zina zizindikiro zake zimakhala zochepa kwambiri moti sizipezeka. Matenda a CFC amathanso kusokonezedwa ndi matenda ena a majini.

Kodi zizindikiro za matenda a CFC ndi ziti?

Zizindikiro zimatha kusiyana kwambiri malinga ndi munthu. Anthu ena amakhala ndi zizindikiro zochepa kwambiri, pomwe ena amakhala ndi zizindikiro zoopsa kwambiri. Komanso, zizindikirozi zimatha kukhudza ziwalo zosiyanasiyana za thupi.

Zizindikiro zokhudzana ndi mtima

Kawirikawiri, ana omwe ali ndi matenda a CFC amabadwa ndi mavuto ena a mtima . Izi zimatchedwa matenda a mtima obadwa nawo. Zizindikirozi nthawi zina zimatha kuwoneka pobadwa, kapena zingawonekere pambuyo pake. Nazi zitsanzo zingapo:

• Kukhala ndi valavu ya mtima yosazolowereka yomwe imakhudza kuyenda kwa magazi kuchokera mumtima kupita m'mapapo.
• Kung'ung'udza kwa mtima ndi mawu osazolowereka omwe amamveka mumtima.
• Dzenje pakati pa zipinda ziwiri zapansi pa mtima (Ventricular Septal Defect).
• Kukhala ndi dzenje pakati pa zipinda ziwiri zapamwamba za mtima (Atrial Septal Defect).
• Kufooka kapena kukhuthala kwa minofu ya mtima (Hypertrophic Cardiomyopathy).

Zizindikiro zokhudzana ndi khungu ndi tsitsi

Pafupifupi aliyense amene ali ndi vutoli adzaona kusintha kwina pakhungu ndi tsitsi lake.

• Kukhala ndi khungu louma komanso lolimba . Lingakhale losalala ngati la mwana, koma louma pang'ono komanso lolimba.
• Zizindikiro zakuda zobadwa nazo (nevi)Kuona zambiri.
• Kuchepa kapena kutayika kwa nsidze kapena nsidze .
• Tsitsi limakhala lopyapyala, lofooka, louma, komanso lozizira .
• Kuoneka kwa matuza ang'onoang'ono ngati matuza (Keratosis Pilaris) m'manja, miyendo, ndi nkhope.
• Khungu lokwinya m'manja ndi m'mapazi.

Kusintha kwa mawonekedwe a nkhope

Zinthu zina zapadera zingaonekerenso pa nkhope ya ana omwe ali ndi vutoli.

• Nkhope yayikulu komanso yayitali .
• Kugwa kwa zikope (Ptosis).
• Kutalikirana kwakukulu pakati pa maso ndi kupendekera kwa maso pansi.
• Chipumi chili chokwera komanso chopapatiza mbali zonse ziwiri.
• Kukhala ndi mutu waukulu kuposa wamba (Macrocephaly).
• Makutu ali pansi pa mulingo wabwinobwino.
• Mphuno yayifupi.
• Chibwano chaching'ono.

Mavuto ena omwe ana angakhale nawo

Ana omwe ali ndi vutoli akhoza kukumana ndi mavuto ena:

• Kuchedwa kukula ndi mavuto a chitukuko cha nzeru (nthawi zambiri pakati mpaka aakulu).
• Kuvuta kudya .
• Madzi ochulukirapo muubongo (Hydrocephalus).
• Kuchepa kwa kuchuluka kwa mahomoni okulira.
• Kugwidwa ndi khunyu .
• Kulemera ndi kulephera kukula (Kulephera kukula bwino).
• Mavuto a masomphenya .
• Kufooka kwa minofu ndi kufooka (Hypotonia).

Kodi n’chiyani chimayambitsa matenda a CFC?

Matenda a CFC amayamba chifukwa cha kusintha kwa majini m'modzi mwa majini angapo. Majini awa ndi awa:

• Jini la `BRAF` (lomwe nthawi zambiri limakhudzidwa)
• Majini a `MAP2K1` ndi `MAP2K2` (achiwiri ofala kwambiri)
• Jini ya `KRAS` (yosowa)

Majini amenewa amalangiza matupi athu kupanga mapuloteni ofunikira pakulankhulana kwa maselo. Njira yolankhulirana iyi imatchedwa `RAS/MAPK pathway`. Njirayi ndi yofunika kwambiri pakukula kwa mwana wosabadwayo.

Komabe, anthu ena omwe apezeka ndi matenda a CFC sanapezeke kuti ali ndi kusintha kulikonse kwa majini kumeneku. Asayansi amakhulupirira kuti anthu oterewa akhoza kukhala ndi `Costello Syndrome` kapena `Noonan Syndrome`.

Kodi matenda a CFC ndi obadwa nawo?

Nthawi zambiri, matenda a CFC sabadwa nawo . Kusintha kwa majini kumeneku kumachitika mwadzidzidzi panthawi yomwe mwana wosabadwayo akukula. Anthu ambiri omwe ali ndi vutoli sakhala ndi mbiri ya m'banja yomwe adadwala matendawa.

Komabe, nthawi zambiri matendawa amatha kutengera m'mibadwomibadwo. Ngati atengera, amakhala mu "Autosomal Dominant". Izi zikutanthauza kuti ngakhale mwana atalandira kopi imodzi ya jini yosinthidwa kuchokera kwa kholo limodzi lomwe silili ndi matendawa koma lili ndi jini yosinthidwa, mwanayo akhozabe kudwala matendawa.

Kodi mungazindikire bwanji vutoli?

Nthawi zina matenda a CFC amapezeka mwana asanabadwe, panthawi ya mimba,Kujambula kwa ultrasound kwa mwana asanabadwe kungapereke zizindikiro, monga kuchuluka kwa madzi amniotic ozungulira mwana wosabadwayo, kapena mutu ndi thupi la mwana wosabadwayo kukhala zazikulu kuposa momwe amayembekezera.

Komabe, vutoli nthawi zambiri limapezeka ali wakhanda . Ngati mwana wanu ali ndi zizindikiro zakuthupi zokhudzana ndi vutoli, dokotala angakupatseni mayeso monga:

• Yesani momwe mtima wa mwana umagwirira ntchito pogwiritsa ntchito mayeso monga `Electrocardiogram (ECG)` , `Echocardiogram` , kapena `Cardiac Catheterization` .
• Kuyesa kwa majini a mamolekyulu kuti mudziwe kusintha kwa majini. Izi nthawi zambiri zimafuna chitsanzo cha magazi kapena chitsanzo cha maselo otengedwa mkati mwa tsaya.
• Mayeso a X-ray, CT scan, MRI, kapena ultrasound kuti aone ngati pali kusintha kulikonse kwachilendo mu mtima, ubongo, kapena ziwalo zina za mwana.
• Yesani mafunde a muubongo ndi ntchito ya khunyu pogwiritsa ntchito `Stereoelectroencephalography (SEEG)` .
• Yang'anani mkati mwa maso a mwana pogwiritsa ntchito mayeso a maso monga `Ophthalmoscopy` .

Kodi matenda a CFC amachiritsidwa bwanji?

Ndipotu, palibe mankhwala enieni a matenda a CFC. Ana omwe ali ndi vutoli amafunika thandizo la gulu la madokotala omwe ali ndi akatswiri osiyanasiyana, kuphatikizapo:

• Katswiri wa mtima
• Dokotala wa khungu
• Katswiri wa Endocrinologist (dokotala wodziwa bwino za dongosolo la endocrine)
• Dokotala wodziwa bwino za kugaya chakudya (Gastroenterologist)
• Katswiri wa majini
• Katswiri wa za ubongo
• Katswiri wa Zachipatala
• Dokotala wa maso
• Dokotala wa ana
• Katswiri Wothandiza Anthu Odwala Matenda a Thupi
• Katswiri wa radiology
• Katswiri Wolankhula

Njira zochiritsira zimasiyana kwambiri kutengera zosowa za mwana aliyense. Komabe, zitha kuphatikizapo:

• Mankhwala opha tizilombo toyambitsa matenda, makamaka ngati mwana ali ndi matenda a mtima.
• Lamulirani khunyu pogwiritsa ntchito mankhwala oletsa khunyu .
• Kuyika chubu chodyetsera mwana kudzera m'mphuno kapena pakhungu la mimba kuti apereke ma calories ndi michere.
• Konzani maso anu pogwiritsa ntchito magalasi, ma contact lenses, kapena opaleshoni .
• Zakudya zopatsa mphamvu komanso zopatsa mphamvu zambiri .
• Mafuta odzola kapena odzola kuti achepetse khungu louma.
• Mankhwala ochiritsira ntchito ya mtima wa mwana kapena kuthetsa mavuto a m'mimba.
• Mankhwala owonjezera kuchuluka kwa mahomoni okulira.
• Kuyika shunt kuti muchotse madzi ochulukirapo kuzungulira ubongo wa mwana ndikuchepetsa kuthamanga kwa magazi.
• Opaleshoni yokonza zolakwika za mtima. Ana ena angafunike opaleshoni ya mtima kuti akonze valavu ya m'mapapo yomwe si yachibadwa.

Kodi moyo wa munthu amene ali ndi matenda a CFC ndi wotani?

Moyo wa munthu amene ali ndi matenda a CFC umadalira kuopsa kwa zizindikiro zake. Komabe, anthu ambiri omwe ali ndi matendawa akapezeka ndi kuchiritsidwa bwino, amakhala ndi moyo wabwinobwino.

Chofunika kwambiri ndi kupatsa mwana chithandizo ndi chithandizo chomwe akufunikira panthawi yoyenera, kuti akhale ndi moyo wabwino kwambiri.

Kodi matenda a CFC angapewedwe?

Popeza vutoli limayamba chifukwa cha kusintha kwa majini mwachisawawa, palibe njira yopewera kusintha komwe kumayambitsa matenda a CFC.

Ndiyenera kufunsa dokotala wanga chiyani china chokhudza matenda a CFC?

Ngati mwana wanu ali ndi matenda a CFC, ndi bwino kufunsa dokotala mafunso monga awa:

• Kodi izi zingakhale `Costello Syndrome` kapena `Noonan Syndrome`? N’chifukwa chiyani mukunena/osanena zimenezo?
• Kodi kusintha kwa majini kumeneku kunachokera kwa makolo kapena kunachitika mwangozi?
• Kodi mwana wanga ali ndi vuto la mtima?
• Kodi mwana wanga ali ndi madzi ochulukirapo mu ubongo wake?
• Kodi mwana wanga adzakhala ndi khunyu?
• Kodi vutoli lidzakhudza masomphenya a mwana wanga?
• Kodi mwana wanga adzafunika opaleshoni kapena mankhwala?
• Kodi tingatsimikizire bwanji kuti mwana wanga akupeza zakudya zomwe akufunikira?
• Kodi pali zizindikiro zapadera zomwe ndiyenera kuuza dokotala?
• Kodi vuto la maganizo ndi lalikulu bwanji?
• Ndi akatswiri ati omwe tiyenera kuwaona ndipo kangati?
• Kodi pali magulu othandizira omwe angatithandize kuthana ndi vutoli?
• Kodi mumalimbikitsa uphungu wa majini?

Kodi kusiyana pakati pa matenda a CFC, matenda a Costello, ndi matenda a Noonan ndi kotani?

Zizindikiro za matenda a CFC zimafanana kwambiri ndi za Costello Syndrome ndi Noonan Syndrome. Kusiyanitsa matenda atatuwa a majini kungakhale kovuta, makamaka akadali aang'ono.

Komabe, matenda onse atatuwa amayamba chifukwa cha kusintha kwa majini . Komanso, mosiyana ndi matenda a CFC, munthu amene ali ndi matenda a Costello ali pachiwopsezo chachikulu chotenga khansa .

Mukangomva koyamba kuti mwana wanu ali ndi matenda a majini monga Cardiofaciocutaneous Syndrome (CFC Syndrome), mungakhumudwe kwambiri ndi malingaliro. Ulendo wopita kuchipatala ukhoza kukhala wovuta kwambiri. Ndipo ndi chithandizo chonse chomwe mwana wanu amafunikira, masiku anu akhoza kukhala otanganidwa. Koma ndikofunikira kutenga nthawi yanu nokha ndikuyesera kuthana ndi nkhawa yanu.Pezani njira zolumikizirana ndi makolo ena a ana omwe ali ndi matenda osowa. Pali madera ambiri pa intaneti, ndipo madokotala a mwana wanu angadziwe za maubwenzi otere.

Uthenga Wopita Nawo Kunyumba

Matenda a mtima ndi khungu (CFC Syndrome) ndi matenda osowa koma omwe amatha kuwononga majini. Musachite mantha ngati mwapezeka ndi matendawa.

• Matendawa angakhudze mtima, nkhope, khungu, tsitsi, komanso kukula kwa mwana.
• Ngakhale palibe mankhwala enieni, pali njira zosiyanasiyana zochiritsira komanso thandizo lachipatala la akatswiri lomwe lingathandize kuthana ndi zizindikiro .
• Ana ambiri akhoza kukhala moyo wabwinobwino ngati atalandira chithandizo choyenera komanso chisamaliro choyenera.
• Simuli nokha. Pezani thandizo kwa madokotala, alangizi, ndi magulu ena othandizira makolo.
• Chofunika kwambiri ndi kukonda ndi kuthandiza mwana wanu ndikugwira ntchito kuti amupatse moyo wabwino kwambiri.

Ngati muli ndi mafunso ena okhudza izi, musazengereze kulankhula ndi dokotala wanu. Angakupatseni mafotokozedwe ndi malangizo ena.

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