Kodi Chachikulu Kwambiri Ndi Chiyani?

Zamkati

• Mitundu 5 ndi zizindikiro zawo
• Zithunzi
• 1. Microcephalic osteodysplastic primordial dwarfism, mtundu 1 (MOPD 1)
• 2. Microcephalic osteodysplastic primordial dwarfism, mtundu 2 (MOPD 2)
• 3. Matenda a Seckel
• 4. Matenda a Russell-Silver
• 5. Matenda a Meier-Gorlin
• Zoyambitsa zazing'ono kwambiri
• Kuzindikira kwakanthawi kochepa kwambiri
• Kujambula
• Chithandizo cha kuchepa kwakukulu
• Chiyembekezo chazinthu zazing'ono kwambiri

Chidule

Kukula kwakanthawi kochepa ndi gulu lodziwika bwino komanso lowopsa lomwe limapangitsa kuti thupi likhale laling'ono komanso zovuta zina. Zizindikiro za vutoli zimawonekera koyamba mu gawo la fetus ndikupitilira kuyambira ubwana, unyamata, ndikukula.

Ana obadwa kumene omwe ali ndi vuto lalikulu kwambiri amatha kulemera mapaundi awiri ndikulemera mainchesi 12 okha.

Pali mitundu isanu ikuluikulu yazinthu zazing'ono kwambiri. Zina mwa mitundu iyi zimatha kubweretsa matenda owopsa.

Palinso mitundu ina ya zazing'ono zomwe sizapamwamba. Zina mwazinthu zazing'onozi zitha kuchiritsidwa ndi mahomoni okula. Koma kuchepa kwakukulu sikumayankha chithandizo cha mahomoni, chifukwa ndi chibadwa.

Matendawa ndi osowa kwambiri. Akatswiri akuganiza kuti mulibe milandu yoposa 100 ku United States ndi Canada. Ndizofala kwambiri kwa ana omwe ali ndi makolo omwe amakhala obadwa nawo.

Mitundu 5 ndi zizindikiro zawo

Pali mitundu isanu yayikulu yazinthu zazing'ono kwambiri. Zonse zimadziwika ndi kukula kwakanthawi kathupi ndi msinkhu wamfupi womwe umayamba koyambirira kwamwana wosabadwayo.

Zithunzi

1. Microcephalic osteodysplastic primordial dwarfism, mtundu 1 (MOPD 1)

Anthu omwe ali ndi MOPD 1 nthawi zambiri amakhala ndi ubongo wosatukuka, womwe umatsogolera ku khunyu, matenda obanika kutulo, komanso vuto la nzeru. Nthawi zambiri amamwalira adakali aang'ono.

Zizindikiro zina ndizo:

• wamfupi msinkhu
• kolala yayitali
• fupa la ntchafu lopindika
• tsitsi lochepa kapena losowa
• khungu lowuma komanso lakale

MOPD 1 amatchedwanso matenda a Taybi-Linder.

2. Microcephalic osteodysplastic primordial dwarfism, mtundu 2 (MOPD 2)

Ngakhale ndizosowa, uwu ndi mtundu wofala kwambiri kuposa MOPD 1. Kuphatikiza pakukula kwakuthupi, anthu omwe ali ndi MOPD 2 atha kukhala ndi zovuta zina, kuphatikiza:

• mphuno yotchuka
• maso otupa
• mano ang'onoang'ono (microdontia) okhala ndi enamel osauka
• mawu ofinya
• msana wopindika (scoliosis)

Zina zomwe zitha kupitilira nthawi ndi monga:

• mitundu yachilendo ya khungu
• kuona patali
• kunenepa kwambiri

Anthu ena omwe ali ndi MOPD 2 amakhala ndi mitsempha yotulutsa ubongo. Izi zitha kuyambitsa kukha mwazi ndi sitiroko, ngakhale akadali aang'ono.

MOPD 2 imawoneka yofala kwambiri mwa akazi.

3. Matenda a Seckel

Matenda a Seckel ankatchedwa kuti kufupi ndi mbalame chifukwa cha zomwe zimawoneka ngati mutu wa mbalame.

Zizindikiro zake ndi izi:

• wamfupi msinkhu
• mutu wawung'ono ndi ubongo
• maso akulu
• kutuluka mphuno
• nkhope yopapatiza
• kutsika nsagwada zakumunsi
• kubwerera pamphumi
• mtima wopunduka

Matenda otukuka amatha kutha kuchitika, koma siofala monga momwe angaganizire kupatsidwa ubongo wawung'ono.

4. Matenda a Russell-Silver

Uwu ndiye mtundu umodzi wamankhwala ochepetsetsa omwe nthawi zina amayankha kuchipatala ndi mahomoni okula. Zizindikiro za matenda a Russell-Silver ndi awa:

• wamfupi msinkhu
• mutu wamakona atatu wopindika pamphumi ndi chibwano choloza
• asymmetry ya thupi, yomwe imachepa ndi zaka
• chala chopindika kapena zala (camptodactyly)
• mavuto a masomphenya
• mavuto olankhula, kuphatikiza kuvuta kupanga mawu omveka bwino (dyspraxia) komanso kuchedwa kuyankhula

Ngakhale ndizocheperako kuposa zachilendo, anthu omwe ali ndi matendawa amakhala ataliatali kuposa omwe ali ndi mitundu ya MOPD 1 ndi 2 kapena Seckel.

Mtundu wocheperako wakalewu umadziwikanso kuti Silver-Russell dwarfism.

5. Matenda a Meier-Gorlin

Zizindikiro zamtundu wakucheperako ndizophatikizira izi:

• wamfupi msinkhu
• khutu lotukuka (microtia)
• mutu wawung'ono (microcephaly)
• nsagwada yosakhazikika (micrognathia)
• kneecap yemwe wasowa kapena wosakhazikika (patella)

Pafupifupi matenda onse a Meier-Gorlin amawonetsa kuchepa, koma si onse omwe amawonetsa mutu wawung'ono, nsagwada zosakhazikika, kapena kneecap yemwe kulibe.

Dzina lina la matenda a Meier-Gorlin ndi khutu, patella, matenda amfupi.

Zoyambitsa zazing'ono kwambiri

Mitundu yonse yazinthu zazing'ono kwambiri imayamba chifukwa cha kusintha kwa majini. Kusintha kosiyanasiyana kwa majini kumayambitsa zikhalidwe zosiyanasiyana zomwe zimakhala zazing'ono kwambiri.

Nthawi zambiri, koma osati onse, anthu omwe ali ndi vuto laling'ono amatenga jini losintha kuchokera kwa kholo lililonse. Izi zimatchedwa kuti autosomal recessive condition. Makolowo samafotokoza okha matendawo.

Komabe, milandu yambiri yakuchepa kwamasinthidwe ndikusintha kwatsopano, kotero makolo sangakhale ndi jini.

Kwa MOPD 2, kusinthaku kumachitika mu jini lomwe limayang'anira kupanga protein pericentrin. Imayang'anira kubereka ndikukula kwa maselo amthupi lanu.

Chifukwa ndimavuto amtundu womwe umayang'anira kukula kwama cell, osati kuchepa kwa hormone yakukula, chithandizo chokhala ndi mahomoni okula sichimakhudza mitundu yambiri yazopanda tanthauzo. Chokhacho ndi matenda a Russell-Silver.

Kuzindikira kwakanthawi kochepa kwambiri

Kuperewera kwakukulu kumakhala kovuta kuzindikira. Izi ndichifukwa choti kukula kwakanthawi kochepa komanso kuchepa kwa thupi kumatha kukhala chizindikiro cha zinthu zina, monga kusadya bwino kapena matenda amadzimadzi.

Kuzindikira kumatengera mbiri ya banja, mawonekedwe ake, ndikuwunika mosamala ma X-ray ndi zina zojambula. Popeza ana awa amakhala ocheperako pakubadwa, nthawi zambiri amakhala mchipatala kwakanthawi, ndipo njira yodziwira matenda amayamba pamenepo.

Madokotala, monga dokotala wa ana, neonatologist, kapena katswiri wazofufuza, adzakufunsani za kutalika kwa kutalika kwa abale, makolo, ndi agogo kuti athandizire kudziwa ngati kutalika kwakanthawi ndi banja osati matenda. Adzasunganso kutalika kwa kutalika, kulemera, ndi kuzungulira kwa mwana wanu kuti azifanizitsa izi ndi momwe amakulira.

Kuyesedwa kwa majini kulinso pano kuti zithandizire kutsimikizira mtundu wakusowa kwenikweni.

Kujambula

Zina mwazinthu zazikuluzikuluzikuluzikulu zomwe zimawonedwa pama X-ray ndi izi:

• kuchedwa msinkhu wa mafupa zaka ziwiri kapena zisanu
• nthiti 11 zokha m'malo mwa 12 wamba
• chiuno chopapatiza komanso chofewa
• kutsitsa (kugubuduza) kwa shaft ya mafupa ataliatali

Nthawi zambiri, zizindikiritso zazamanthu zazing'ono zimatha kupezeka pa nthawi yobala ya ultrasound.

Chithandizo cha kuchepa kwakukulu

Kupatula chithandizo cha mahomoni pakagwa matenda a Russell-Silver, mankhwala ambiri sangathetse kuchepa kapena kuchepa kwa thupi poyambira pang'ono.

Opaleshoni nthawi zina imatha kuthana ndi mavuto okhudzana ndi kukula kwa mafupa.

Mtundu wa opaleshoni wotchedwa kutalika kwa miyendo ingayesedwe. Izi zimaphatikizapo njira zingapo. Chifukwa chowopsa komanso kupsinjika, makolo nthawi zambiri amadikirira mpaka mwanayo atakula asanayese.

Chiyembekezo chazinthu zazing'ono kwambiri

Kuperewera kwakukulu kumatha kukhala koopsa, koma ndikosowa kwambiri. Sikuti ndi ana onse omwe ali ndi vutoli omwe amakhala ndi moyo mpaka atakula. Kuwunika pafupipafupi komanso kupita kukaonana ndi dokotala kumatha kuthandizira kuzindikira zovuta ndikusintha moyo wamwana wanu.

Kupita patsogolo kwa njira zochiritsira majini kumalonjeza kuti tsiku lina chithandizo chamankhwala ochepetsa chidwi kwambiri chitha kupezeka.

Kugwiritsa ntchito bwino nthawiyo kungathandize kuti mwana wanu komanso ena a m'banja lanu akhale ndi moyo wabwino. Talingalirani kuwona zidziwitso zamankhwala ndi zothandizira pakuchepa koperekedwa ndi Little People of America.