Matenda a Marfan

Matenda a Marfan ndimatenda amtundu wolumikizana. Izi ndiye minofu yomwe imalimbitsa mamangidwe amthupi.

Kusokonezeka kwa minofu yolumikizana kumakhudza mafupa, dongosolo lamtima, maso, ndi khungu.

Matenda a Marfan amayamba chifukwa cha zolakwika za jini yotchedwa fibrillin-1. Fibrillin-1 imagwira gawo lofunikira ngati zomangira zomangiriza mthupi.

Vutoli limayambitsanso mafupa aatali a thupi kukula kwambiri. Anthu omwe ali ndi matendawa amakhala ndi kutalika kwakutali ndi mikono yayitali ndi miyendo. Momwe izi zikuchulukira sizikumveka bwino.

Madera ena amthupi omwe akhudzidwa ndi awa:

• Minofu yamapapo (pakhoza kukhala pneumothorax, momwe mpweya umatha kutuluka m'mapapo kulowa pachifuwa ndikugwa mapapo)
• Aorta, chotengera chachikulu chamagazi chomwe chimachotsa magazi kuchokera pamtima kupita mthupi chimatha kutambasula kapena kufooka (kotchedwa aortic dilation kapena aortic aneurysm)
• Mtima mavavu
• Maso, kuchititsa ng'ala ndi mavuto ena (monga kuchotsa magalasi)
• Khungu
• Minofu yophimba msana
• Kuphatikizana

Nthawi zambiri, matenda a Marfan amapitilira m'mabanja (obadwa nawo). Komabe, mpaka 30% ya anthu alibe mbiri yakubanja, yomwe imadziwika kuti "nthawi ndi nthawi." Nthawi zambiri, matendawa amakhulupirira kuti amayamba chifukwa cha kusintha kwa majini atsopano.

Anthu omwe ali ndi matenda a Marfan nthawi zambiri amakhala ataliatali ndi mikono yayitali, yopyapyala ndi miyendo komanso zala zangaude (zotchedwa arachnodactyly). Kutalika kwa mikono kumakhala kwakukulu kuposa kutalika pamene mikono yatambasulidwa.

Zizindikiro zina ndizo:

• Chifuwa chomwe chimamira kapena kutuluka, chotchedwa funnel chest (pectus excavatum) kapena chifuwa cha njiwa (pectus carinatum)
• Mapazi apansi
• M'kamwa mwamphamvu kwambiri ndi mano ambiri
• Hypotonia
• Magulu osinthika kwambiri (koma zigongono zimatha kukhala zosasintha)
• Kulephera kuphunzira
• Kusuntha kwa mandala a diso pamalo ake abwinobwino (kusunthika)
• Kuyang'ana pafupi
• Nsagwada yaying'ono (micrognathia)
• Mphepete zomwe zimayambira mbali imodzi (scoliosis)
• Woonda, nkhope yopapatiza

Anthu ambiri omwe ali ndi matenda a Marfan amadwala matenda am'mimba komanso ophatikizana.

Wothandizira zaumoyo adzayesa. Malumikizowo amatha kuyenda mozungulira kuposa zachilendo. Pakhoza kukhala zizindikiro za:

• Kuzindikira
• Mapapu atagwa
• Mavuto a valavu yamtima

Kuyesedwa kwa diso kumatha kuwonetsa:

• Zofooka za mandala kapena cornea
• Gulu la Retinal
• Mavuto masomphenya

Mayesero otsatirawa akhoza kuchitidwa:

• Zojambulajambula
• Kuyesa kusintha kwa Fibrillin-1 (mwa anthu ena)

Echocardiogram kapena mayeso ena ayenera kuchitika chaka chilichonse kuti ayang'ane m'munsi mwa aorta ndipo mwina ma valve amtima.

Mavuto a masomphenya ayenera kuthandizidwa ngati kuli kotheka.

Kuwunika kwa scoliosis, makamaka pazaka zaunyamata.

Mankhwala ochepetsa kugunda kwa mtima komanso kutsika kwa magazi kumathandizira kupewa kupsinjika kwa msempha. Pofuna kupewa kuvulala kwa aorta, anthu omwe ali ndi vutoli amayenera kusintha zochita zawo. Anthu ena angafunike kuchitidwa opaleshoni kuti asinthe mizu ya aortic ndi valavu.

Amayi apakati omwe ali ndi matenda a Marfan ayenera kuyang'aniridwa kwambiri chifukwa cha kupsinjika kwa mtima ndi aorta.

National Marfan Foundation - www.marfan.org

Mavuto okhudzana ndi mtima amatha kufupikitsa moyo wa anthu omwe ali ndi matendawa. Komabe, anthu ambiri amakhala azaka zopitilira 60 kapena kupitilira apo. Kusamalira bwino ndikuchita opareshoni kumatha kupititsa patsogolo moyo wautali.

Zovuta zingaphatikizepo:

• Kubwezeretsa kwa aortic
• Kuphulika kwa aortic
• Bakiteriya endocarditis
• Kutulutsa aneurysm ya aortic
• Kukulitsa kwa m'munsi mwa msempha
• Mtima kulephera
• Mitral valve yayenda
• Scoliosis
• Mavuto masomphenya

Mabanja omwe ali ndi vutoli ndipo akukonzekera kukhala ndi ana angafune kuti alankhule ndi azachipembedzo asanayambe banja.

Kusintha kwadzidzidzi kwa majini omwe amatsogolera ku Marfan (osachepera gawo limodzi mwa magawo atatu a milandu) sikungapeweke. Ngati muli ndi matenda a Marfan, onani omwe amakuthandizani kamodzi pachaka.

Aortic aneurysm - Marfan

• Pectus excavatum
• Matenda a Marfan

Doyle JJ, Doyle AJ, Dietz HC (Adasankhidwa) Matenda a Marfan. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 722.

Madan-Khetarpal S, Arnold G. Matenda amtundu komanso zovuta za dysmorphic. Mu: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 1.

Pyeritz RE. Matenda obadwa nawo a minofu yolumikizana. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. 26 wa. Philadelphia, PA: Elsevier; 2020: chap 244.