Matenda a Aarskog

Matenda a Aarskog ndi matenda osowa kwambiri omwe amakhudza kutalika kwa munthu, minofu, mafupa, maliseche, ndi mawonekedwe. Itha kupitilira kudzera m'mabanja (obadwa nawo).

Matenda a Aarskog ndimatenda amtundu womwe amalumikizidwa ndi X chromosome. Zimakhudza makamaka amuna, koma akazi amatha kukhala ndi mawonekedwe ofatsa. Vutoli limayamba chifukwa cha kusintha (kusintha) mu jini yotchedwa "faciogenital dysplasia" (FGD1).

Zizindikiro za matendawa ndi monga:

• Batani la Belly lomwe limatuluka
• Bulge mu kubuula kapena scrotum
• Kuchedwa kukhwima
• Mano akuchedwa
• Kutsika kwa palpebral kutsetsereka kumaso (palpebral slant ndiye kolowera kopendekera kuchokera kunja mpaka pakona lamkati la diso)
• Tsitsi lokhala ndi "nsonga yamasiye"
• Chifuwa chololedwa modekha
• Wofooka pang'ono pang'ono
• Kutalika pang'ono pang'ono pang'ono komwe sikungakhale kowonekera mpaka mwana atakwanitsa zaka 1 mpaka 3
• Gawo lakumaso lopanda bwino
• Nkhope yozungulira
• Mpweya umazungulira mbolo (shawl scrotum)
• Zala zazing'ono ndi zala zazing'ono zopota
• Kutsekemera kumodzi mdzanja lamanja
• Manja ang'onoang'ono, otakata ndi mapazi ndi zala zazifupi komanso chala chopindika chachisanu
• Mphuno yaying'ono yokhala ndi mphuno yakutsogolo
• Machende omwe sanatsike (osakondedwa)
• Gawo lapamwamba la khutu lopindidwa pang'ono
• Malo okwera pamwamba pa mlomo wapamwamba, kutsika pansi pa mlomo wapansi
• Maso otakata ndi zikope zakugwa

Mayesowa atha kuchitika:

• Kuyesa kwachibadwa kwa masinthidwe mu FGD1 jini
• X-ray

Kusuntha mano kumatha kuchitidwa kuti muchepetse nkhope zina zomwe munthu yemwe ali ndi matenda a Aarskog angakhale nazo.

Zida zotsatirazi zitha kukupatsani chidziwitso chambiri pa matenda a Aarskog:

• National Organisation for Rare Disways - rarediseases.org/rare-diseases/aarskog-syndrome
• Buku Lofotokozera la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

Anthu ena amatha kuchepa kwamaganizidwe, koma ana omwe ali ndi vutoli nthawi zambiri amakhala ndi maluso ochezera. Amuna ena amatha kukhala ndi vuto la kubereka.

Zovuta izi zitha kuchitika:

• Zosintha muubongo
• Zovuta zakukula mchaka choyamba cha moyo
• Mano ogwirizana bwino
• Kugwidwa
• Machende osatsitsidwa

Itanani foni kwa omwe akukuthandizani ngati mwana wanu wachedwa kukula kapena ngati muwona zizindikiro zilizonse za matenda a Aarskog. Funsani upangiri wamtundu ngati muli ndi mbiri yaza banja la matenda a Aarskog. Lumikizanani ndi katswiri wamtundu wa zamoyo ngati omwe akukupatsani akuganiza kuti inu kapena mwana wanu mungakhale ndi matenda a Aarskog.

Kuyezetsa magazi kumatha kupezeka kwa anthu omwe ali ndi mbiri yakubadwa ya vutoli kapena kusintha kosadziwika kwa jini komwe kumayambitsa.

Matenda a Aarskog; Matenda a Aarskog-Scott; AAS; Matenda a Faciodigitogenital; Gaciogenital dysplasia

• Nkhope
• Pectus excavatum

D'Cunha Burkardt D, Graham JM. Kukula kwakukulu kwa thupi ndi kuchuluka kwake. Mu: Pyeritz RE, Korf BR, Grody WW, olemba., Eds. Mfundo za Emery ndi Rimoin ndi Zochita za Medical Genetics ndi Genomics: Mfundo Zachipatala ndi Mapulogalamu. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2019: chaputala 4.

Jones KL, Jones MC, Del Campo M. Kutalika pang'ono, nkhope ± maliseche. Mu: Jones KL, Jones MC, Del Campo M, olemba. Mitundu Yodziwika ya Smith Yosintha Kwaanthu. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier Saunders; 2013: chap.