Matenda a Loeys-Dietz

Zamkati

• Mitundu
• Ndi mbali ziti za thupi zomwe zimakhudzidwa ndi matenda a Loeys-Dietz?
• Kutalika kwa moyo ndi kudandaula
• Zizindikiro za matenda a Loeys-Dietz
• Mavuto a mtima ndi magazi
• Mawonekedwe osiyana
• Mafupa dongosolo zizindikiro
• Zizindikiro za khungu
• Mavuto amaso
• Zizindikiro zina
• Nchiyani chimayambitsa matenda a Loeys-Dietz?
• Matenda a Loeys-Dietz ndi pakati
• Kodi Loeys-Dietz Syndrome amathandizidwa bwanji?
• Tengera kwina

Chidule

Matenda a Loeys-Dietz ndimatenda amtundu omwe amakhudza minofu yolumikizana. Minofu yolumikizira ndikofunikira popereka mphamvu komanso kusinthasintha kwa mafupa, mitsempha, minofu, ndi mitsempha yamagazi.

Matenda a Loeys-Dietz adafotokozedwa koyamba mu 2005.Mawonekedwe ake amafanana ndi Marfan's syndrome ndi Ehlers-Danlos, koma matenda a Loeys-Dietz amayamba chifukwa cha kusintha kosiyanasiyana kwa majini. Zovuta zamalumikizidwe zimatha kukhudza thupi lonse, kuphatikiza mafupa, khungu, mtima, maso, komanso chitetezo chamthupi.

Anthu omwe ali ndi matenda a Loeys-Dietz ali ndi nkhope zawo, monga maso otalikirana kwambiri, kutseguka padenga pakamwa (pakamwa), ndi maso omwe samaloza mbali imodzi (strabismus) - koma palibe anthu awiri omwe ali ndi chisokonezo chimafanana.

Mitundu

Pali mitundu isanu ya matenda a Loeys-Dietz, otchedwa I kudzera pa V. Mtunduwo umadalira mtundu wa kusintha kwa majini komwe kumayambitsa matendawa:

• Lembani I Zimayambitsidwa ndi kusintha kwa kukula kwa beta receptor 1 (TGFBR1) kusintha kwa majini
• Mtundu Wachiwiri Zimayambitsidwa ndi kusintha kwa kukula kwa beta receptor 2 (TGFBR2) kusintha kwa majini
• Mtundu Wachitatu amayambitsidwa ndi amayi motsutsana ndi decapentaplegic homolog 3 (SMAD3) kusintha kwa majini
• Mtundu wachinayi Zimayambitsidwa ndi kusintha kwakukula kwa beta 2 ligand (TGFB2) kusintha kwa majini
• Lembani V Zimayambitsidwa ndi kusintha kwakukula kwa beta 3 ligand (TGFB3) kusintha kwa majini

Popeza Loeys-Dietz akadali vuto latsopanoli, asayansi akuphunzirabe zakusiyana kwazachipatala pakati pa mitundu isanu.

Ndi mbali ziti za thupi zomwe zimakhudzidwa ndi matenda a Loeys-Dietz?

Monga vuto la minyewa yolumikizirana, matenda a Loeys-Dietz amatha kukhudza pafupifupi gawo lililonse la thupi. M'munsimu muli madera omwe anthu ambiri amakhala ndi nkhawa:

• mtima
• Mitsempha yamagazi, makamaka aorta
• maso
• nkhope
• mafupa, kuphatikizapo chigaza ndi msana
• mafupa
• khungu
• chitetezo cha mthupi
• njira yogaya chakudya
• ziwalo zopanda pake, monga ndulu, chiberekero, ndi matumbo

Matenda a Loeys-Dietz amasiyanasiyana malinga ndi munthu. Chifukwa chake si aliyense amene ali ndi matenda a Loeys-Dietz omwe amakhala ndi zizindikilo m'magawo onse amthupi.

Kutalika kwa moyo ndi kudandaula

Chifukwa cha zovuta zambiri zowopsa zokhudzana ndi mtima wamunthu, mafupa, komanso chitetezo chamthupi, anthu omwe ali ndi matenda a Loeys-Dietz ali pachiwopsezo chachikulu chokhala ndi moyo wamfupi. Komabe, kupita patsogolo kwa chithandizo chamankhwala kumachitika nthawi zonse kuti zithandizire kuchepetsa zovuta kwa iwo omwe akhudzidwa ndi matendawa.

Monga matendawa adziwika posachedwapa, ndizovuta kuyerekezera chiyembekezo cha moyo wa munthu amene ali ndi matenda a Loeys-Dietz. Kawirikawiri, ndi matenda okhaokha omwe ali ovuta kwambiri omwe amadza kuchipatala. Milanduyi sikuwonetsa kupambana pakadali pano pakuthandizidwa. Masiku ano, ndizotheka kuti anthu omwe amakhala ndi Loeys-Dietz akhale ndi moyo wautali, wokwanira.

Zizindikiro za matenda a Loeys-Dietz

Zizindikiro za matenda a Loeys-Dietz zitha kuwuka nthawi iliyonse ali mwana mpaka munthu wamkulu. Kulimba kwake kumasiyana kwambiri ndi munthu.

Izi ndi zizindikiro zodziwika kwambiri za matenda a Loeys-Dietz. Komabe, nkofunika kuzindikira kuti zizindikirozi sizimawonedwa mwa anthu onse ndipo nthawi zambiri sizimayambitsa matenda olondola:

Mavuto a mtima ndi magazi

• kukulitsa kwa aorta (chotengera chamagazi chomwe chimatulutsa magazi kuchokera pansi pamtima kupita ku thupi lonse)
• aneurysm, chotupa pamakoma amitsempha yamagazi
• kung'ambika kwa minyewa, kung'ambika kwadzidzidzi kwa zigawo za khoma la msempha
• kuvuta kwamitsempha yamitsempha, kupindika kapena kupindika kwa mitsempha
• Matenda ena obadwa nawo a mtima

Mawonekedwe osiyana

• hypertelorism, maso ambiri
• bifid (split) kapena broad uvula (kachidutswa ka mnofu kamene kamapachikidwa kumbuyo kwa kamwa)
• mafupa apatalala
• kutsetsereka pang'ono pang'ono pamaso
• craniosynostosis, kusakanikirana koyambirira kwa mafupa a chigaza
• m'kamwa mwake pali mphako
• buluu sclerae, buluu wobiriwira kwa azungu amaso
• micrognathia, chibwano chaching'ono
• retrognathia, chibwano chobwerera

Mafupa dongosolo zizindikiro

• zala zazitali ndi zala
• contractures zala
• kalabu
• scoliosis, kupindika kwa msana
• kusakhazikika kwa khomo lachiberekero
• kulekana pamodzi
• pectus excavatum (chifuwa chowotcha) kapena pectus carinatum (chifuwa chotuluka)
• nyamakazi, kutupa olowa
• pes planus, phazi lathyathyathya

Zizindikiro za khungu

• khungu loyera
• khungu lofewa kapena la velvety
• kuvulaza kosavuta
• magazi osavuta
• chikanga
• zipsera zosazolowereka

Mavuto amaso

• myopia, kuwona pafupi
• kusokonezeka kwa minofu yamaso
• strabismus, maso omwe samaloza mbali yomweyo
• gulu la diso

Zizindikiro zina

• chakudya kapena ziwengo zachilengedwe
• matenda otupa m'mimba
• mphumu

Nchiyani chimayambitsa matenda a Loeys-Dietz?

Matenda a Loeys-Dietz ndimatenda amtundu omwe amayamba chifukwa cha kusintha kwa majini mu cholakwika chimodzi mwa zisanu. Mitundu isanu iyi imayambitsa kupanga zolandilira ndi mamolekyu ena munjira yosinthira kukula-beta (TGF-beta). Njirayi ndiyofunikira pakukula koyenera ndikukula kwa minyewa yolumikizira thupi. Majini awa ndi:

• TGFBR1
• TGFBR2
• SMAD-3
• TGFBR2
• TGFBR3

Vutoli limakhala ndi cholowa chambiri pa autosomal. Izi zikutanthauza kuti mtundu umodzi wokha wa jini losinthidwa ndikokwanira kuyambitsa vutoli. Ngati muli ndi matenda a Loeys-Dietz, pali mwayi wa 50 peresenti kuti mwana wanu adzakhalanso ndi matendawa. Komabe, pafupifupi 75 peresenti ya matenda a Loeys-Dietz amapezeka mwa anthu omwe alibe mbiri yabanja yokhudzana ndi vutoli. M'malo mwake, chilema chimabadwa chokha mchiberekero.

Matenda a Loeys-Dietz ndi pakati

Kwa amayi omwe ali ndi matenda a Loeys-Dietz, ndikulimbikitsidwa kuti muwunikenso zoopsa zanu ndi mlangizi wamtundu musanatenge mimba. Pali zoyeserera zomwe zimachitika panthawi yapakati kuti mudziwe ngati mwana ali ndi vutoli.

Mzimayi yemwe ali ndi matenda a Loeys-Dietz amathanso kukhala ndi chiopsezo chachikulu chodulidwa minyewa ya minyewa komanso kuphulika kwa chiberekero panthawi yapakati komanso atangobereka kumene. Izi ndichifukwa choti kutenga mimba kumawonjezera nkhawa pamtima komanso pamitsempha yamagazi.

Amayi omwe ali ndi matenda aortic kapena opunduka pamtima ayenera kukambirana ndi dokotala kapena mayi wobereka asanayambe kutenga pakati. Mimba yanu idzaonedwa kuti ndi "chiopsezo chachikulu" ndipo imafunikira kuwunikiridwa mwapadera. Ena mwa mankhwala omwe amagwiritsidwa ntchito pochiza matenda a Loeys-Dietz sayeneranso kugwiritsidwa ntchito panthawi yapakati chifukwa cha chiwopsezo cha kubadwa kwa mwana komanso kutaya mwana.

Kodi Loeys-Dietz Syndrome amathandizidwa bwanji?

M'mbuyomu, anthu ambiri omwe ali ndi matenda a Loeys-Dietz adapezeka kuti ali ndi Marfan's syndrome. Tsopano amadziwika kuti matenda a Loeys-Dietz amachokera ku mitundu yosiyanasiyana ya majini ndipo amafunika kuyendetsedwa mosiyanasiyana. Ndikofunika kukumana ndi dokotala yemwe amadziwa bwino vutoli kuti adziwe njira zamankhwala.

Palibe njira yothetsera vutoli, choncho chithandizo chimayesetsa kupewa ndi kuchiza zizindikiro. Chifukwa cha chiwopsezo chachikulu chophukira, munthu amene ali ndi vutoli ayenera kutsatiridwa mosamala kuti aunikire momwe zimakhalira ndi zovuta zina. Kuwunika kungaphatikizepo:

• ma echocardiograms apachaka kapena apabanja
• pachaka computed tomography angiography (CTA) kapena magnetic resonance angiography (MRA)
• khomo lachiberekero X-ray

Kutengera ndi zizindikilo zanu, mankhwala ena ndi njira zopewera zitha kuphatikizira izi:

• mankhwala kuchepetsa kupsyinjika kwa mitsempha yayikulu mthupi pochepetsa kugunda kwa mtima ndi kuthamanga kwa magazi, monga angiotensin receptor blockers kapena beta-blockers
• opaleshoni yamitsempha monga kusintha kwa mizu ya aortic ndikukonzanso kwamtsempha kwama aneurysms
• zoletsa zolimbitsa thupi, monga kupewa masewera ampikisano, masewera olumikizana nawo, kuchita masewera olimbitsa thupi, komanso zolimbitsa thupi zomwe zimafinya minofu, monga pushups, pullups, ndi situps
• zinthu zochepa zamtima monga kukwera mapiri, kupalasa njinga, kuthamanga komanso kusambira
• opaleshoni ya mafupa kapena kulimba chifukwa cha scoliosis, kupunduka kwa phazi, kapena mgwirizano
• mankhwalawa komanso kufunsira kwa allergist
• chithandizo chamankhwala kuchiza kusakhazikika kwa msana kwa khomo lachiberekero
• kufunsa katswiri wazakudya za m'mimba

Tengera kwina

Palibe anthu awiri omwe ali ndi matenda a Loeys-Dietz omwe angakhale ndi zofananira. Ngati inu kapena adotolo mukukayikira kuti muli ndi matenda a Loeys-Dietz, tikulimbikitsidwa kuti mukakumane ndi katswiri wodziwa za majini yemwe amadziwika bwino ndi zovuta zamagulu. Chifukwa matendawa adangodziwika mu 2005, madokotala ambiri sangadziwe. Ngati kusinthika kwa majini kungapezeke, akuti tikayesenso mamembala kuti asinthe momwemo.

Asayansi akamaphunzira zambiri za matendawa, akuyembekezeredwa kuti matenda am'mbuyomu azitha kusintha zotsatira zamankhwala ndikutsogolera kuzithandizo zatsopano.