Loeys-Dietz Syndrome

Zvemukati

• Mhando
• Ndeapi matunhu emuviri anokanganiswa neLoeys-Dietz syndrome?
• Hupenyu hunotarisirwa uye kufungidzira
• Zviratidzo zveLoeys-Dietz syndrome
• Zvinetso zvemwoyo neropa
• Kusiyanisa kumeso maficha
• Skeletal system zviratidzo
• Zviratidzo zveganda
• Matambudziko eziso
• Zvimwe zviratidzo
• Chii chinokonzera Loeys-Dietz syndrome?
• Loeys-Dietz syndrome uye nhumbu
• Inoitwa sei Loeys-Dietz Syndrome?
• Tora woenda nazvo

Mhedziso

Loeys-Dietz syndrome chirwere chinokonzerwa nehutachiona chinokanganisa hutachiona. Iyo inosanganisa matishu yakakosha pakupa simba uye kushanduka kune mapfupa, ligaments, mhasuru, uye tsinga dzeropa.

Loeys-Dietz syndrome yakatanga kutsanangurwa muna 2005.Zviratidzo zvaro zvakafanana neMarfan's syndrome uye Ehlers-Danlos syndrome, asi Loeys-Dietz syndrome inokonzerwa nekusiyana kwemajini. Kukanganisika kwetiki inobatanidza kunogona kukanganisa muviri wese, kusanganisira skeletal system, ganda, moyo, maziso, uye immune system.

Vanhu vane Loeys-Dietz syndrome vane zvakasarudzika kumeso, semeso akapararira, kuvhurika padenga mumuromo (cleft palate), uye maziso asinganongedze munzira imwechete (strabismus) - asi hapana vanhu vaviri vane kusagadzikana kwakafanana.

Mhando

Kune mashanu marudzi eLoeys-Dietz syndrome, yakanyorwa kuti I kuburikidza naV. Rudzi rwacho rwunoenderana nekuti majini ekuchinja anokonzera kukonzera kusagadzikana.

• Tora I inokonzerwa nekushandura kukura chinhu beta receptor 1 (TGFBR1) majini kuchinja
• Rudzi rwechipiri inokonzerwa nekushandura kukura chinhu beta receptor 2 (TGFBR2) kuchinja kwemajini
• Rudzi rwechitatu inokonzerwa navanamai vachipesana ne decapentaplegic homolog 3 (SMAD3) majini kuchinja
• Rudzi IV inokonzerwa nekushandura kukura chinhu beta 2 ligand (TGFB2) majini kuchinja
• Tora V inokonzerwa nekushandura kukura chinhu beta 3 ligand (TGFB3) majini kuchinja

Sezvo Loeys-Dietz ichiri hosha ichangobva kuzivikanwa, vesaenzi vachiri kudzidza nezve mutsauko muzvikamu zvemakiriniki pakati pemhando shanu.

Ndeapi matunhu emuviri anokanganiswa neLoeys-Dietz syndrome?

Sechirwere chechimiro chinobatanidza, Loeys-Dietz syndrome inogona kukanganisa chinenge chikamu chose chemuviri. Izvi zvinotevera nzvimbo dzakajairika dzekunetsekana kune vanhu vane dambudziko iri:

• mwoyo
• tsinga dzeropa, kunyanya aorta
• maziso
• kumeso
• marangwanda, kusanganisira dehenya uye musana
• majoini
• ganda
• immune system
• kugaya hurongwa
• nhengo dzine mhango, senge denda, chibereko, uye ura

Loeys-Dietz syndrome inosiyana pamunhu nemunhu. Saka havazi vese munhu ane Loeys-Dietz syndrome achave nezviratidzo mune ese aya mativi emuviri.

Hupenyu hunotarisirwa uye kufungidzira

Nekuda kwehupenyu hwakawanda hunotyisidzira hupenyu hune hukama nemoyo wemunhu, marangwanda, uye immune system, vanhu vane Loeys-Dietz syndrome vari panjodzi huru yekuve nehupenyu hupfupi. Nekudaro, kufambira mberi mune zvekurapa kuri kugara kuchiitwa kubatsira kubatsira kudzikisa matambudziko kune avo vanokanganiswa nechirwere ichi.

Sezvo chirwere ichi chave kungozivikanwa munguva pfupi yapfuura, zvakaoma kufungidzira tarisiro yechokwadi yehupenyu kune mumwe munhu ane Loeys-Dietz syndrome. Kazhinji, chete kesi dzakakomba kwazvo dzechirwere chitsva ndidzo dzinouya kuchipatara. Aya makesi haaratidze budiriro yazvino mukurapa. Mazuva ano, zvinokwanisika kuti vanhu vanogara naLoeys-Dietz vatungamire hupenyu hwakareba, hwakazara.

Zviratidzo zveLoeys-Dietz syndrome

Zviratidzo zveLoeys-Dietz syndrome zvinogona kumuka chero nguva panguva yehucheche kuburikidza nekukura. Kuomarara kunosiyana zvakanyanya kubva pamunhu kuenda kumunhu.

Izvi zvinotevera zviratidzo zveLoeys-Dietz syndrome. Nekudaro, zvakakosha kuti uzive kuti izvi zviratidzo hazvionekwe muvanhu vese uye hazviwanzo kutungamira kune chaiyo kuongororwa kwechirwere ichi:

Zvinetso zvemwoyo neropa

• kuwedzera kweaorta (iro reropa reropa rinonunura ropa kubva pamoyo kuenda kune iro rese muviri)
• aneurysm, bhuru mumadziro eropa
• aortic dissection, nekukasira kubvarura kwematanda mumadziro eorta
• arterial tortuosity, kumonyanisa kana kuputira tsinga
• kumwe kuberekwa kwemoyo kuremara

Kusiyanisa kumeso maficha

• hypertelorism, yakawanda nzvimbo maziso
• bifid (kupatsanurwa) kana yakafara kuvhura (chidimbu chenyama chinorembera pasi kumashure kwemuromo)
• sandara matama mapfupa
• zvishoma zvakadzika zvakadzika kumeso
• craniosynostosis, kutanga kusanganiswa kwemapfupa ehenya
• mukanwa, gomba padenga remuromo
• bhuruu sclerae, bhuruu tinge kune vachena vemeso
• micrognathia, chidiki chidiki
• retrognathia, receding chin

Skeletal system zviratidzo

• minwe mirefu nezvigunwe
• zvibvumirano zveminwe
• clubfoot
• scoliosis, kupindika kwemuzongoza
• cervical-musana kusagadzikana
• joint laxity
• pectus excavatum (chipfuva chakanyura) kana pectus carinatum (chipfuva chinoputika)
• osteoarthritis, kuzvimba pamwe
• pes planus, sandara tsoka

Zviratidzo zveganda

• ganda rinopenya
• rakapfava kana velvety ganda
• kupwanya kuri nyore
• kubuda ropa nyore
• eczema
• chisina kujairika vanga

Matambudziko eziso

• myopia, pedyo
• ziso retsandanyama yemaziso
• strabismus, maziso asingatarise munzira imwechete
• retinal boka

Zvimwe zviratidzo

• chikafu kana kusagadzikana kwezvakatipoteredza
• chirwere chemudumbu
• asima

Chii chinokonzera Loeys-Dietz syndrome?

Loeys-Dietz syndrome chirwere chemagene chinokonzerwa negenegen mutation (kukanganisa) mune rimwe remashanu majeni. Aya majeni mashanu ane basa rekugadzira zvinogamuchirwa uye mamwe mamorekuru munzira yekushandura kukura-beta (TGF-beta) nzira. Iyi nzira yakakosha mukukura kwakakodzera uye kusimudzira kwenyama inobatanidza nyama. Aya majini ndeaya:

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

Iyo kusagadzikana ine autosomal yakakosha pateni yenhaka. Izvi zvinoreva kuti imwe chete kopi yeiyo mutated geni inokwana kukonzera kusagadzikana. Kana iwe uine Loeys-Dietz syndrome, pane makumi mashanu muzana mukana wekuti mwana wako avewo nedambudziko. Nekudaro, ingangoita makumi manomwe neshanu muzana ezviitiko zveLoeys-Dietz syndrome inoitika muvanhu vasina nhoroondo yemhuri yechirwere ichi. Panzvimbo pezvo, urema hwechibereko hunongoerekana hwaitika mudumbu.

Loeys-Dietz syndrome uye nhumbu

Kune vakadzi vane chirwere cheLoeys-Dietz, zvinokurudzirwa kuti uongorore njodzi dzako neyechibharanzi usati wabata pamuviri. Pane sarudzo dzekuyedza dzinoitwa panguva yekuzvitakura kuti uone kana fetus ichave nechirwere.

Mukadzi ane Loeys-Dietz syndrome anozove nenjodzi yakakwira yekuparara kweaortic uye kuputika kwechibereko panguva yekuzvitakura uye chaipo mushure mekubereka. Izvi zvinodaro nekuti nhumbu inoisa kunetseka kwakanyanya pamoyo nemutsinga weropa.

Vakadzi vane chirwere cheaortic kana kusakwana kwemoyo vanofanirwa kukurukura njodzi nachiremba kana chiremba wekubereka vasati vafunga nhumbu. Kubata kwako kunozotarisirwa se "njodzi huru" uye zvingangoda kuongororwa kwakakosha. Mimwe yemishonga inoshandiswa pakurapa kweLoeys-Dietz syndrome zvakare haifanire kushandiswa panguva yekuzvitakura nekuda kwenjodzi yekuremara kwekuzvarwa uye kurasikirwa kwechibereko.

Inoitwa sei Loeys-Dietz Syndrome?

Munguva yakapfuura, vanhu vazhinji vane Loeys-Dietz syndrome vakaonekwa zvisirizvo vaine Marfan's syndrome. Izvo zvava kuzivikanwa kuti Loeys-Dietz syndrome inokonzerwa nekusiyana kwemajini uye inoda kutarisirwa zvakasiyana. Zvakakosha kusangana nachiremba anoziva nezvechirwere ichi kuti aone chirongwa chekurapa.

Iko hakuna kurapwa kwechirwere, saka kurapwa kunoitirwa kudzivirira uye kurapa zviratidzo. Nekuda kwenjodzi huru yekutyoka, mumwe munhu ane chirwere ichi anofanirwa kuteverwa padhuze kuti aongorore kuumbwa kweaneurysms uye mamwe matambudziko. Kuongorora kunogona kusanganisira:

• yegore kana biannual echocardiograms
• pagore computed tomography angiography (CTA) kana magnetic resonance angiography (MRA)
• remuromo musana X-rays

Zvichienderana nezviratidzo zvako, mamwe marapirwo uye matanho ekudzivirira anogona kusanganisira:

• mishonga kudzikisira kuomesera kwetsinga huru dzemuviri nekuderedza kurova kwemwoyo uye kuwedzerwa kweropa, senge angiotensin receptor blockers kana beta-blockers
• kuvhiya tsinga senge aortic midzi kutsiva uye arterial kugadzirisa kweaneurysms
• kurovedza muviri, sekudzivirira kukwikwidza mitambo, kubata mitambo, kurovedza muviri, uye kurovedza muviri kunokanganisa mhasuru, kunge pushups, pullups, uye situps
• kujekesa zviitiko zvemoyo kufanana nekukwira, kuchovha bhasikoro, kumhanya, uye kushambira
• orthopedic kuvhiyiwa kana bracing ye scoliosis, kuremara kwetsoka, kana zvibvumirano
• mishonga yemakemikari nekutaurirana nachiremba
• kurapa kwepanyama kurapa remuromo musana kusagadzikana
• kutaurirana nenyanzvi yezvokudya yezvinhu zvemudumbu

Tora woenda nazvo

Hapana vanhu vaviri vane Loeys-Dietz syndrome vanozove nehunhu hwakafanana. Kana iwe kana chiremba wako uchifungidzira kuti une chirwere cheLoeys-Dietz, zvinokurudzirwa kuti usangane nanagneticist uyo anoziva nezvematambudziko ehunhu. Nekuti iyo syndrome yakangozivikanwa muna 2005, vanachiremba vazhinji vanogona kunge vasingazvizive. Kana geni mutation ikawanikwa, zvinokurudzirwa kuyedzawo nhengo dzemhuri shanduko imwechete.

Sezvo masayendisiti achidzidza zvakawanda nezve chirwere ichi, zvinotarisirwa kuti kuongororwa kwekutanga kuchakwanisa kuvandudza mhedzisiro yekurapa uye kutungamira kune matsva ekurapa sarudzo.