Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tiphunzire za Shprintzen-Goldberg Syndrome (SGS)

Lero tikambirana za matenda osowa kwambiri a majini, zomwe zikutanthauza kuti si aliyense amene amawaona. Amatchedwa Shprintzen-Goldberg Syndrome (SGS). Mwina simunamvepo za dzinali. Koma ndikofunikira kwambiri kudziwa za matenda otere, chifukwa tikatero tingathe kuzindikira zizindikiro zake mwachangu ndikupeza upangiri wofunikira kwa dokotala.

Kodi Shprintzen-Goldberg Syndrome (SGS) ndi chiyani?

Mwachidule, Shprintzen-Goldberg Syndrome (SGS) ndi matenda osowa kwambiri omwe amakhudza ziwalo zosiyanasiyana za thupi lathu. Amachititsa kuti mwana akhale ndi nkhope zosazolowereka, mafupa a chigaza osalumikizana msanga (izi zimatchedwa ``Craniosynostosis''), kusintha kwa mafupa osiyanasiyana, mavuto a ubongo ndi mitsempha (monga kuchedwa kukula kwa nzeru), komanso nthawi zina zolakwika zina za mtima.

Pali mayina ena awiri omwe amagwiritsidwa ntchito pa vutoli, ``Marfanoid-craniosynostosis syndrome'' ndi ``Shprintzen-Goldberg craniosynostosis syndrome''. Ngakhale mayinawo angawoneke ovuta pang'ono, chofunikira ndikumvetsetsa kuti iyi ndi matenda a majini.

Kodi SGS ndi yofala bwanji?

Matenda a Shprintzen-Goldberg ndi matenda osowa kwambiri. Pakadali pano, zolemba zachipatala zatchula milandu yosakwana 50 yokha ya matendawa. Izi zikutanthauza kuti pali anthu ochepa okha omwe ali ndi matendawa padziko lonse lapansi.

Chinthu china pankhaniyi ndichakuti zizindikiro za SGS zimafanana pang'ono ndi matenda ena awiri a majini otchedwa Marfan Syndrome ndi Loeys-Dietz Syndrome, kotero nthawi zina zimakhala zovuta kuti madokotala adziwe matendawa molondola. Chifukwa chake, n'zovuta kunena kuti ndi anthu angati omwe ali ndi vutoli.

Kodi kusiyana pakati pa Shprintzen-Goldberg Syndrome, Marfan Syndrome, ndi Loeys-Dietz Syndrome ndi kotani?

Ngakhale zizindikiro za matenda atatuwa zingawoneke zofanana, zimayambitsidwa ndi kusintha kwa majini osiyanasiyana . Makamaka, anthu omwe ali ndi matenda a SGS amakhala ndi vuto la maganizo. Alinso ndi chiopsezo chochepa cha matenda a mtima kuposa omwe ali ndi Marfan Syndrome ndi Loeys-Dietz Syndrome. Koma kumbukirani, zonsezi zimatha kusiyana malinga ndi munthu.

Kodi ndi zifukwa ziti zomwe zimayambitsa matenda a Shprintzen-Goldberg (SGS)?

Nthawi zambiri, chifukwa chachikulu cha SGS ndi kusintha kwa majini otchedwa `(SKI)` m'thupi lathu. Jini iyi ya SKI imapanga mapuloteni omwe amathandiza pazinthu zambiri zofunika m'maselo athu, monga kukula, kugawikana, kuyenda, kukhwima, ndi kufa.

Tangoganizani, popeza puloteni iyi ya SKI imapezeka m'maselo osiyanasiyana m'thupi lathu, ngati pali kusintha kwa majini awa, ingakhudze ziwalo zosiyanasiyana za thupi. Ndicho chifukwa chake timawona zizindikiro zosiyanasiyana mu SGS.

Komabe, odwala ena a SGS alibe kusintha kwa majini a SKI, kotero asayansi akufufuzabe zina zomwe zingayambitse vutoli pazochitika zotere.

Kodi izi ndi zinthu zomwe zimachokera ku mibadwomibadwo?

Nthawi zambiri, matenda a Shprintzen-Goldberg Syndrome sabadwa nawo.Kusintha kwa majini kumeneku kumachitika mwachisawawa, kutanthauza kuti, pambuyo pa kutenga pakati, panthawi ya kukula kwa mwana wosabadwayo. Chifukwa chake, anthu ambiri omwe ali ndi vutoli sakhala ndi mbiri ya m'banja la matendawa.

Komabe, nthawi zambiri , vutoli limatha kufalikira kuchokera kwa kholo kupita kwa mwana. Ngati lafalikira, limakhala mu autosomal dominant pattern. Mwachidule, izi zikutanthauza kuti ngakhale mwana atalandira kopi ya jini yosinthidwa kuchokera kwa kholo limodzi lokha, mwanayo akhozabe kukhala ndi vutoli.

Kodi zizindikiro za matenda a Shprintzen-Goldberg (SGS) ndi ziti?

Zizindikiro za SGS zimatha kusiyana kwambiri kuchokera kwa munthu ndi munthu. Anthu ena ali ndi zizindikiro zochepa kwambiri, pomwe ena akhoza kukhala ndi zizindikiro zoopsa. Zizindikirozi zimatha kukhudza ziwalo zosiyanasiyana za thupi.

Zizindikiro za kusakanikirana msanga kwa mafupa a chigaza (`(Craniosynostosis)`):

Ngati mafupa a mutu wa mwana agwirizana msanga, kaya m'mimba kapena pobadwa, vuto lotchedwa ``Craniosynostosis'', zizindikiro monga:

• Mutu wautali komanso wopapatiza.
• Kutalikirana kwakukulu pakati pa maso, maso akutuluka patsogolo kapena akupendekera pansi.
• Mkamwa wautali, wopapatiza (pamwamba pakamwa).
• Pamphumi lalitali komanso loonekera bwino.
• Chingwe chaching'ono cha pansi.
• Makutu amakhala otsika kuposa masiku onse ndipo nthawi zina amabwerera m'mbuyo.

Matenda ena a mafupa:

Kupatula izi, kusintha kwina kwa mafupa kungawonekere monga:

• Kusayenda bwino kwa mafupa.
• Kalabu ya mapazi.
• Chifuwa chotulukira kutsogolo kapena chomira mkati (Pectus excavatum/carinatum).
• Scoliosis.
• Zala zopindika kosatha (`(Camptodactyly)`).
• Kutalika kuposa manja ndi miyendo yachibadwa.
• Zala zazitali, zoonda (`(Arachnodactyly)`). Ena amati zimaoneka ngati miyendo ya kangaude.

Anthu ena akhoza kukhala ndi zizindikiro monga izi:

• Matenda a ubongo, mwachitsanzo, madzi ochulukirapo mu ubongo (hydrocephalus).
• Kuchedwa kukula ndi kulephera kwa nzeru pang'ono mpaka pang'ono.
• Mavuto a m'mimba, mwachitsanzo kudzimbidwa kapena kuchedwa kutulutsa chakudya m'mimba (Gastroparesis).
• Hernias ya m'mimba kapena ya m'chiuno (`(Hernias)`).
• Kuchepa kwa khungu, ngati kuti kukuwonekera kudzera mmenemo, komanso kuvulala mosavuta.
• Kuvuta kupuma.
• Kufooka kwa minofu (`(Hypotonia)`). Izi zikutanthauza mkhalidwe umene thupi limadzimva lopanda moyo.

Zizindikiro za mtima zomwe sizichitika kawirikawiri:

Izi sizichitika kwa aliyense, koma anthu ena akhoza kukhala ndi matenda a mtima monga awa:

• Kufooka kwa khoma la msempha (Aorta) (Aortic aneurysm).
• Magazi amabwerera m'mbuyo chifukwa valavu ya mtsempha wamagazi siitseka bwino (Aortic regurgitation).
• Kukula kwa muzu wa aorta (`(Kukula kwa muzu wa aorta)`).
• Magazi akutuluka kuchokera ku valavu ya mtima (`(Mitral valve regurgitation)`).
• Kutsika kwa valvu ya mitral (kugwira ntchito molakwika kwa valvu ya mitral ya mtima).

Chofunika ndichakuti si odwala onse a SGS omwe ali ndi zizindikiro zonsezi. Anthu ena akhoza kukhala ndi zochepa chabe, ndipo kuopsa kwa zizindikirozo kumatha kusiyana.

Kodi matenda a Shprintzen-Goldberg Syndrome (SGS) amawapeza bwanji?

Kuzindikira matenda a SGS kungakhale kovuta pang'ono. Monga ndanenera kale, chifukwa ndi vuto losowa kwambiri ndipo lingasokonezedwe ndi Marfan Syndrome kapena Loeys-Dietz Syndrome, nthawi zina matendawa amatha kuchedwa.

Dokotala amapanga matenda potengera zizindikiro ndi zizindikiro. Izi zikutanthauza kufufuza mosamala mawonekedwe a mwana, kukula kwake, ndi mavuto ena azaumoyo. Nthawi zina kuyezetsa majini kungatsimikizire kusintha kwa majini a SKI. Komabe, chifukwa anthu opanda kusintha kwa majini amenewa akhozanso kukhala ndi SGS, pakadali pano palibe mayeso ena enieni omwe angathandize kuzindikira matendawa.

Kodi matenda a Shprintzen-Goldberg Syndrome (SGS) amachiritsidwa bwanji?

Tsoka ilo, pakadali pano palibe mankhwala enieni a vutoli. Cholinga chachikulu cha chithandizo cha Shprintzen-Goldberg Syndrome ndikuthana ndi zizindikiro ndikuthandiza wodwalayo kukhala ndi moyo wabwino momwe angathere.

Njira zochiritsira zimatha kusiyana, kutengera zizindikiro za wodwalayo. Nazi zitsanzo zingapo:

• Kupangitsa kuyenda kukhala kosavuta povala zothandizira miyendo kapena kumbuyo (`(zothandizira)`).
• Kugwiritsa ntchito chubu chodyetsera, ngati kuli kofunikira, kuti muwonetsetse kuti chakudya chili bwino.
• Kupereka mankhwala ochizira matenda a mtima.
• Opaleshoni yokonza zolakwika za mtima kapena mavuto a mafupa m'chigaza, msana, kapena pachifuwa.
• Ngati njira yolowera mpweya yatsekedwa, opaleshoni ikhoza kuchitidwa (tracheostomy) kutsogolo kwa khosi.

Komanso, dokotala wanu angakulangizeni mayesowa kamodzi pachaka kapena zaka ziwiri zilizonse, chifukwa angakuthandizeni kuona ngati pali kusintha kulikonse pa thanzi lanu:

• Kuyesa kuchuluka kwa mafupa.
• Kuyesa kwa Echocardiogram kuti muwone mtima.
• Mayeso a magnetic resonance angiography (MRA) kapena mayeso a computed tomography angiography (CTA) kuti aone mitsempha yamagazi.
• Yang'anani ngati pali kusintha kulikonse mu chigoba (X-ray).

Gulu la akatswiri lingafunike kuti lichiritse munthu amene ali ndi matenda a Shprintzen-Goldberg. Gululi likhoza kuphatikizapo akatswiri monga:

• Katswiri wa mtima
• Dokotala wa opaleshoni ya mafupa a mutu ndi nkhope (dokotala wa mafupa a mutu ndi nkhope)
• Katswiri wa majini
• Dokotala wa opaleshoni ya ubongo ndi mitsempha (`(Neurosurgeon)`)
• Katswiri wa zamaganizo - Munthu amene amathandiza anthu kuchita ntchito za tsiku ndi tsiku mosavuta.
• Dokotala wa maso - wa mavuto a maso (monga myopia).
• Dokotala wa mano - Pa mavuto okhudzana ndi mano ndi nsagwada.
• Dokotala wa mafupa (dokotala wa mafupa, mafupa ndi msana)
• Dokotala wa ana
• Katswiri wa zamaganizo - Munthu amene amathandiza kukonza kayendedwe ka thupi ndi ntchito zake.
• Katswiri wa zamaganizo
• Katswiri wa radiology (`(Radiologist)`) - wa kujambula zithunzi zachipatala.
• Katswiri wa kulankhula (`(katswiri wa kulankhula)`) - wa mavuto olankhula.

Ndi thandizo la anthu onsewa kuti titha kupereka chithandizo chabwino kwambiri kwa wodwalayo.

Kodi matenda a Shprintzen-Goldberg Syndrome (SGS) angapewedwe?

Pakadali pano palibe njira yopewera kusintha kwa majini komwe kumayambitsa matenda a Shprintzen-Goldberg. Izi zili choncho chifukwa nthawi zambiri kumachitika mwangozi. Komanso, asayansi sakudziwabe zinthu zina zomwe zimapangitsa kuti matendawa apitirire kufalikira kupatula jini la SKI.

Kodi nthawi yoti munthu akhale ndi moyo ndi yotani ndi Shprintzen-Goldberg Syndrome (SGS)?

Nthawi yoyembekezera moyo (kuneneratu) kwa munthu amene ali ndi matenda a SGS imadalira kuopsa kwa matendawa. Ngati pali zizindikiro zochepa, nthawi yoyembekezera moyo singakhudzidwe kwambiri. Komabe, ngati ubongo, mtima, kapena dongosolo logaya chakudya zakhudzidwa kwambiri, nthawi yoyembekezera moyo ingafupikitsidwe.

Ndi chiyani chinanso chomwe ndiyenera kufunsa dokotala wanga chokhudza matenda a Shprintzen-Goldberg (SGS)?

Mukapeza kuti mwana wanu ali ndi matenda a Shprintzen-Goldberg, mungakhale ndi mafunso ambiri. Nthawi ngati zimenezi, ndi bwino kufunsa gulu lanu lachipatala mafunso monga:

• Kodi kusintha kwa majini kumeneku kunachokera kwa makolo, kapena kunangochitika mwangozi?
• Kodi vutoli limakhudza machitidwe ati m'thupi la mwana?
• Kodi mwana wanga amafunikira chithandizo chanji?
• Kodi zizindikiro kapena zizindikiro ziti zomwe zimafunika thandizo lachipatala mwamsanga?
• Kodi mwana wanga adzakhala ndi vuto la kukula kapena matenda amisala?
• Kodi vutoli lidzafupikitsa moyo wa mwana wanga?
• Kodi ndi akatswiri amtundu wanji omwe tiyenera kuwaona? Kangati?
• Kodi mafupa, mtima, mitsempha yamagazi, ndi ubongo wa mwana wanga ziyenera kuyesedwa nthawi zonse?
• Kodi pali magulu othandizira omwe angatithandize kukhala ndi vutoli?
• Kodi mumalimbikitsa uphungu kapena kuyezetsa majini?

Ngakhale kuti matenda a Shprintzen-Goldberg Syndrome ndi matenda obadwa nawo osowa, ndikofunikira kudziwa za matendawa ndikupempha upangiri wa dokotala mwachangu. Ngati mukuganiza kuti mwana wanu ali ndi zizindikirozi, chonde funsani katswiri kuti akupatseni chithandizo choyenera.

Pomaliza, kumbukirani izi (Uthenga Wopita Nawo Kunyumba)

Matenda a Shprintzen-Goldberg (SGS) ndi matenda osowa kwambiri omwe amayambitsa kusintha kwa nkhope, mafupa, ubongo, komanso ngakhale mtima wa mwana.Izi zitha kuchitika mwachibadwa, kapena zitha kuchitika mwangozi.

Ngakhale kuti palibe mankhwala, pali njira zosiyanasiyana zothandizira kuthana ndi zizindikiro. Mothandizidwa ndi gulu la akatswiri, mwana wanu akhoza kukhala ndi moyo wabwino momwe angathere. Ngati mukukayikira kuti mwana wanu ali ndi zizindikirozi, musaope kulankhula ndi dokotala. Kuzindikira msanga ndi kulandira chithandizo choyenera kungapangitse kusiyana kwakukulu. Kumbukirani, simuli nokha. Pali magulu othandizira ndi zinthu zothandizira mabanja omwe akukumana ndi mavutowa.

Matenda a Shprintzen-Goldberg, SGS, Matenda a Majini, Craniosynostosis, Majini a SKI, Zovuta za Chigoba, Kuchedwa kwa Kukula, Matenda Osowa