Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tikambirane za matenda a Jacobsen Syndrome

Kodi mwaona kusintha kulikonse kapena mavuto pakukula kapena mawonekedwe a nkhope ya mwana wanu? Nthawi zina, matenda osowa monga Jacobsen Syndrome angakhale chifukwa cha izi. Musadandaule, tidzasunga zonse mosavuta.

Kodi Jacobsen Syndrome ndi chiyani?

Mwachidule, Jacobsen Syndrome ndi matenda osowa kwambiri okhudzana ndi ma chromosome m'thupi lathu. Majini athu amapezeka pa ma chromosome awa. Pa vutoli, majini angapo akusowa kapena kuchotsedwa kuchokera ku gawo la chromosome yathu 11. Kunena zoona, majini awa akusowa kumapeto kwa mkono wautali (q arm) wa chromosome iyi. Ichi ndichifukwa chake amatchedwanso 11q terminal deletion disorder.

Tangoganizirani, ngati chidutswa chaching'ono cha chromosome 11 chikusowa, chiwerengero cha majini omwe akhudzidwacho chimachepanso. Kenako zizindikirozo zimatha kuchepetsedwa pang'ono. Koma ngati gawo lalikulu likusowa, zizindikirozo zimakhala zoopsa kwambiri. Anthu ena akasowa gawo laling'ono mwanjira imeneyi, amatchedwa partial Jacobsen syndrome kapena partial monosomy 11q. Monosomy ndi pamene gawo la awiri a chromosome likusowa.

Ana omwe ali ndi Jacobsen Syndrome amakhala ndi kuchedwa kukula , mavuto a khalidwe , komanso mawonekedwe osiyana a nkhope . Ana ambiri ali ndi vuto la mtima wobadwa nawo . Amakhalanso ndi vuto la magazi lotchedwa Paris-Trousseau syndrome.

Pakadali pano palibe mankhwala athunthu a izi, ndipo nthawi yopulumuka imasiyana malinga ndi munthu.

Kodi zizindikiro za Jacobsen Syndrome ndi ziti?

Zizindikiro za Jacobsen Syndrome zimasiyana malinga ndi kukula ndi malo omwe zachotsedwa. Anthu ambiri amakumana ndi kuchedwa pakukula kwa luso la kulankhula ndi kuyenda kwa thupi . Angakhalenso ndi vuto la kuzindikira komanso mavuto ena ophunzirira .

Ana ambiri omwe ali ndi Jacobsen Syndrome alinso ndi mavuto a khalidwe . Mwachitsanzo, khalidwe lokakamiza komanso nthawi yochepa yoganizira. Ana ambiri amapezekanso ndi vuto lotchedwa Attention-Deficit/Hyperactivity Disorder (ADHD) . Vutoli limagwirizanitsidwanso ndi chiopsezo chowonjezeka cha matenda a Autism Spectrum Disorders .

Mawonekedwe enieni a nkhope

Ana omwe ali ndi Jacobsen Syndrome ali ndi mawonekedwe osiyanasiyana a nkhope. Izi zikuphatikizapo:

• Kukhala ndi mutu waukulu - macrocephaly
• Chiphumi cholunjika chifukwa cha vuto la chigaza (trigonocephaly)
• Makutu ang'onoang'ono, otsika
• Maso omwe ali kutali kwambiri - hypertelorism
• Makope ofooka - ptosis
• Kupezeka kwa khungu lopindika pakona yamkati ya diso - ma epicanthal folds
• Mlatho waukulu wa mphuno
• Makona a pakamwa omwe amatembenukira pansi
• Mlomo woonda wakumwamba
• Kachidutswa kakang'ono

Zina mwazinthu

Zinthu zina zingapo zitha kuwoneka:

• Zilema za mtima zobadwa nazo
• Mavuto odyetsa
• Kuchedwa kukula mwana asanabadwe komanso atabadwa
• Kutalika kwaufupi
• Matenda obwerezabwereza a m'mphuno ndi m'makutu
• Matenda a m'mimba, impso, ndi ziwalo zoberekera

Anthu ambiri omwe ali ndi Jacobsen Syndrome alinso ndi vuto la kutuluka magazi lotchedwa Paris-Trousseau syndrome . Izi zimakhudza ma platelet a mwana wanu. Ma platelet ndi mtundu wa selo lomwe limathandiza magazi kuundana. Ndi Paris-Trousseau syndrome, mwana amakhala pachiwopsezo cha kutuluka magazi mosazolowereka moyo wake wonse, ndipo amatha kuvulala mosavuta.

Kodi ndi zifukwa ziti zomwe zimayambitsa matenda a Jacobsen?

Matenda a Jacobsen ndi matenda a chromosome . Monga mukudziwa, ma chromosome ndi zinthu zomwe zimakhala ndi chidziwitso cha majini athu (majini). Majini amenewa amatsimikiza momwe thupi lathu liyenera kukulira ndikugwira ntchito. Nthawi zambiri, pamakhala ma chromosome 22 owerengeka m'thupi la munthu, kuphatikiza ma chromosome awiriawiri ogonana. Chromosome iliyonse ili ndi mkono waufupi (mkono wa p) ndi mkono wautali (mkono wa q).

Mwa anthu ena, majini angapo kumapeto kwa mkono wautali (q) wa chromosome 11 amachotsedwa. Gawo lina la chromosome 11 nthawi zambiri limakhala lopanda kanthu. Ichi ndiye chifukwa cha Jacobsen Syndrome. Kukula kwa kuchotsedwa kukakhala kwakukulu, zizindikiro zimakhala zoopsa kwambiri. Kutengera ndi kukula kwa kuchotsedwa, derali likhoza kukhala ndi majini kuyambira 170 mpaka 340. Majini omwe ali m'derali ndi omwe amachititsa kuti mtima wathu, ubongo, ndi nkhope zathu zikule bwino.

Kodi izi ndi zolamulira kapena zowononga?

Kulamulira kapena kubweza m'mbuyo kumatanthauza momwe mumapezera majini anu kuchokera kwa makolo anu.

Koma,Nthawi zambiri, Jacobsen Syndrome si yobadwa nayo. Izi zikutanthauza kuti, si yobadwa nayo kuchokera kwa makolo. Nthawi zambiri imayamba chifukwa cha cholakwika cha kugawikana kwa maselo panthawi ya kukula kwa mwana wosabadwayo, zomwe zimapangitsa kuti gawo la chromosome litayike. Palibe chomwe makolo angachite kuti apewe vutoli, ndipo palibe chomwe angachite kuti apewe. Anthu omwe ali ndi Jacobsen Syndrome nthawi zambiri sakhala ndi mbiri ya banja la matendawa. Komabe, amatha kupatsira matendawa kwa ana awo.

Kawirikawiri, anthu omwe ali ndi Jacobsen Syndrome amatha kulandira matendawa kuchokera kwa kholo lopanda zizindikiro. Izi zimachitika pamene kholo lili ndi vuto la majini lotchedwa balanced translocation . Mwachidule, gawo la chromosome 11 ndi gawo la chromosome ina zimasinthasintha. Izi sizichepetsa majini, kotero makolo sawonetsa zizindikiro. Komabe, pamene ma chromosome awa aperekedwa, anawo akhoza kukhala ndi kusalinganika.

Kodi zinthu zoopsa ndi ziti?

Matenda a Jacobsen ndi matenda omwe amakhudza aliyense m'majini. Kafukufuku wina wapeza kuti amakhudza atsikana pafupipafupi.

Kodi madokotala amazindikira bwanji izi?

Dokotala wanu akhoza kuzindikira Jacobsen Syndrome panthawi ya mimba yanu. Ngati ma scan a prenatal ultrasound akubweretsa nkhawa, dokotala wanu angakulangizeni kuti muyesedwenso. Mayeso odziwika bwino a majini a prenatal ndi awa:

• Kuyezetsa mimba kosavulaza (NIPT): Izi zimaphatikizapo kutenga DNA ya mwana wanu pang'ono kuchokera ku chitsanzo cha magazi anu ndikuyang'ana ngati pali vuto lililonse mu chiwerengero cha ma chromosome.
• Kuyesa kwa chorionic villus (CVS): Dokotala amagwiritsa ntchito singano kutenga chitsanzo cha maselo kuchokera ku placenta.
• Kuyeza kwa amniocentesis: Dokotala amagwiritsa ntchito singano kuti atenge chitsanzo cha madzi amniotic m'chiberekero.

Mwana akabadwa, dokotala wa mwanayo amatha kuzindikira matenda a Jacobsen Syndrome pochita mayeso a majini . Mu mayeso awa a majini, dokotalayo amatenga chitsanzo cha magazi a mwana ndikuyang'ana pansi pa maikulosikopu. Amapaka ma chromosome omwe ali mu chitsanzocho, omwe amawoneka ngati barcode. Izi zitha kuyang'ana ma chromosome osweka, majini omwe akusowa. Nthawi zambiri, gawo losweka limakhala pa chromosome 11. Komabe, mayeso ena a majini amafunika kuti apeze malo enieni omwe asweka.

Mayeso ena ndi Microarray Comparative Genomic Hybridization (Array CGH).Nthawi zina kusintha kochepa kwambiri kwa ma chromosome, komwe ndi kochepa kwambiri kuti kuonekere pogwiritsa ntchito maikulosikopu, kungayambitse Jacobsen Syndrome. Apa ndi pomwe madokotala amachita mayeso a Array CGH. Izi zimasonyeza kusintha kochepa kwambiri mu DNA m'ma chromosome onse a mwana. Zingathe kudziwa ngati DNA yabwerezedwa, yasokonekera, kapena yasowa.

Kodi matenda a Jacobsen amachiritsidwa bwanji?

Palibe mankhwala a Jacobsen Syndrome. Chithandizo chimayang'ana kwambiri pa:

• Kusamalira zizindikiro za mwana wanu
• Kumuthandiza kukwaniritsa zolinga zake zachitukuko
• Kupewa mavuto azaumoyo

Kwa makanda omwe ali ndi vuto la kudya, madokotala angakulangizeni kuti mugwiritse ntchito chubu cha gastrostomy (G-tube) . Chubuchi chimayikidwa mwachindunji m'mimba mwa mwana kuti apereke chakudya. Opaleshoni yotchedwa fundoplication ingakonze vuto la valavu pansi pa mmero.

Mwana wanu angafunike opaleshoni ina. Mwachitsanzo, opaleshoni yokonza mavuto a khungu monga trigonocephaly . Opaleshoni ingafunikenso kuti ikonze mavuto a maso kapena maso. Opaleshoni ingafunikenso kuti ikonze zolakwika za mafupa, mtima, ndi zina.

Dokotala wa mwana wanu angakupatseni mankhwala enaake a matenda ena a mtima. Mwachitsanzo, mankhwala oletsa kupweteka kwa mtima . Awa ndi mankhwala omwe amathandiza kupewa kapena kukonza kayendedwe ka mtima kosazolowereka. Angakupatseninso mankhwala ochepetsa mphamvu ya mtima . Awa ndi mankhwala omwe amathandiza kuchotsa madzi ochulukirapo m'thupi.

Madokotala angakulangizeni kuti mugwiritse ntchito magalasi owongolera, magalasi olumikizirana, kapena opaleshoni ya maso ngati muli ndi vuto la maso.

Madokotala angapereke magazi kapena ma platelet kuti athetse mavuto a Paris-Trousseau syndrome . Angakupatsenso mankhwala otchedwa desmopressin , omwe amathandiza magazi kuundana.

Mwana wanu adzafika pachimake pa kukula kwake nthawi ina. Komabe, kuchitapo kanthu mwamsanga kungamuthandize kukwaniritsa zomwe angathe. Dokotala wa mwana wanu angakulangizeni izi:

• Maphunziro apadera othandizira odwala
• Kuchiza thupi
• Chithandizo cha kulankhula

Kodi ndingayembekezere chiyani ngati mwana wanga ali ndi Jacobsen Syndrome?

Moyo wa anthu omwe ali ndi Jacobsen Syndrome umasiyana malinga ndi kuopsa kwa zizindikiro zawo. Chifukwa cha matenda aakulu a mtima ndi mavuto otsekeka kwa magazi, pafupifupi 20% ya makanda omwe ali ndi Jacobsen Syndrome amamwalira asanakwanitse zaka ziwiri.

Komabe, ana ambiri omwe ali ndi Jacobsen Syndrome apulumuka mpaka atakula. Akuluakulu omwe ali ndi vutoli akhoza kukhala ndi moyo wosangalala komanso wokhutiritsa komanso wodziyimira pawokha pamlingo wosiyanasiyana.

Kodi matenda a Jacobsen Syndrome angapewedwe?

Popeza ndi matenda a majini, Jacobsen Syndrome singathe kupewedwa. Ngati muli ndi pakati kapena mukukonzekera kutenga pakati, funsani dokotala wanu za uphungu wa majini . Mlangizi wa majini angakuthandizeni kumvetsetsa chiopsezo chanu chokhala ndi mwana ndi Jacobsen Syndrome.

Kupeza kuti mwana wanu ali ndi Jacobsen Syndrome kungakhale koopsa. Musachite mantha, koma tengani nthawi yophunzira zambiri momwe mungathere za matenda a mwana wanu. Ngati n'kotheka, yesani kupeza dokotala amene akumvetsa vuto la mwana wanu. Iye angapatse mwana wanu njira zabwino kwambiri zochiritsira.

Kuti muthandizidwe kuthana ndi matenda a mwana wanu, yang'anani magulu othandizira . Ena omwe adakumanapo ndi vuto lomweli angakupatseni chidziwitso ndi mphamvu zomwe mukufunikira kuti muthandize mwana wanu.

Uthenga Wopita Nawo Kunyumba

Matenda a Jacobsen ndi matenda osowa komanso ovuta kuwazindikira, koma kumbukirani kuti simuli nokha.

• Izi zimachitika chifukwa cha kusintha kwa majini mwachisawawa , osati chifukwa cha makolo.
• Kuzindikira msanga ndi kuchitapo kanthu ndikofunikira kwambiri kuti moyo wa mwana ukhale wabwino.
• Funsani thandizo kwa madokotala, akatswiri azachipatala, ndi alangizi .
• Mphamvu ndi chidziwitso chomwe chapezeka kuchokera ku magulu othandizirana ndi makolo ena n'chofunika kwambiri.
• Mwana aliyense ndi wosiyana. Chitani mwana wanu mwachikondi komanso moleza mtima malinga ndi luso lake ndi zosowa zake.

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

Matenda a Jacobsen, kusokonekera kwa ma chromosome, chromosome 11, matenda a majini, kuchedwa kwa chitukuko, matenda a Paris-Trousseau, vuto la mtima wobadwa nalo, upangiri wa majini