Matenda a Sturge-Weber

Matenda a Sturge-Weber (SWS) ndi matenda osowa omwe amapezeka pakubadwa. Mwana yemwe ali ndi vutoli amakhala ndi chikhomo chobayira vinyo (doko kumaso) ndipo amatha kukhala ndi mavuto amanjenje.

Kwa anthu ambiri, chifukwa cha Sturge-Weber ndichifukwa cha kusintha kwa GNAQ jini. Jini imeneyi imakhudza mitsempha ing'onoing'ono yamagazi yotchedwa capillaries. Mavuto a ma capillaries amachititsa kuti dothi la vinyo wapa doko lipange.

Sturge-Weber silingaganizidwe kuti ingaperekedwe (kubadwa nayo) kudzera m'mabanja.

Zizindikiro za SWS ndi izi:

• Dontho la vinyo wapa Port (lofala kwambiri pankhope yakumaso ndi chivindikiro cha diso kuposa thupi lonse)
• Kugwidwa
• Mutu
• Kufa ziwalo kapena kufooka mbali imodzi
• Kulephera kuphunzira
• Glaucoma (kuthamanga kwambiri kwamadzi m'maso)
• Chithokomiro chochepa (hypothyroidism)

Glaucoma ikhoza kukhala chizindikiro chimodzi cha vutoli.

Mayeso atha kuphatikiza:

• Kujambula kwa CT
• Kujambula kwa MRI
• X-ray

Chithandizo chimakhazikitsidwa ndi zizindikilo za munthu, ndipo atha kukhala:

• Mankhwala a anticonvulsant okomoka
• Madontho a diso kapena opaleshoni yochizira glaucoma
• Chithandizo cha Laser pamadontho a vinyo wa doko
• Thandizo lakuthupi lofa ziwalo kapena kufooka
• Kutheka kwaubongo kuti muteteze kugwidwa

Zida zotsatirazi zitha kupereka zambiri pa SWS:

• Sturge-Weber Foundation - sturge-weber.org
• National Organisation for Rare Disways - rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
• Buku Lofotokozera la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

SWS nthawi zambiri siyowopseza moyo. Vutoli limafunika kutsatiridwa nthawi zonse. Moyo wamunthu umadalira momwe zizindikilo zake (monga kugwidwa) zingapewere kapena kuthandizidwa.

Munthuyo ayenera kukaonana ndi dokotala wa maso (ophthalmologist) kamodzi pachaka kuti akachiritse khungu. Ayeneranso kukawona katswiri wa zamankhwala kuti azitha kugwidwa ndi matenda ena amanjenje.

Zovuta izi zitha kuchitika:

• Kukula kwachilendo kwa chotengera chamagazi mu chigaza
• Kukula kopitilira muyeso wa vinyo wapa doko
• Kuchedwa kwachitukuko
• Mavuto am'mutu ndi machitidwe
• Glaucoma, yomwe ingayambitse khungu
• Kufa ziwalo
• Kugwidwa

Wopereka chithandizo chamankhwala ayenera kuwunika zizindikilo zonse zobadwira, kuphatikiza zodetsa vinyo. Kugwidwa, mavuto amaso, ziwalo, ndi kusintha kwa kukhala tcheru kapena malingaliro kungatanthauze kuphimba kwaubongo kumakhudzidwa. Zizindikirozi ziyenera kuyesedwa nthawi yomweyo.

Palibe njira yodziwika yopewera.

Encephalotrigeminal angiomatosis; SWS

• Matenda a Sturge-Weber - mapazi okha
• Matenda a Sturge-Weber - miyendo
• Diso la vinyo wapa Port kumaso kwa mwana

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Mphamvu SM, Garzon MC. Zovuta zam'mimba. Mu: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, olemba. Matenda a Neonatal ndi Khanda. Wachitatu ed. Philadelphia, PA: Elsevier Saunders; 2015: mutu 22.

Sahin M, Ullrich N, Srivastava S, Pinto A. Ma syndromes amtundu wosagwirizana. 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 614.