Sturge-Weber chirwere

Sturge-Weber syndrome (SWS) chirwere chisingawanzo chiripo pakuzvarwa. Mwana ane chirwere ichi anozove nechiteshi-waini banga rekuzvara (kazhinji pachiso) uye anogona kunge aine matambudziko etsinga.

Muvanhu vazhinji, chikonzero cheSturge-Weber chiri nekuda kwekuchinja kweiyo GNAQ geni. Iri geni rinobata mitsipa midiki yeropa inonzi capillaries Zvinetso muma capillaries zvinokonzeresa kuti chiteshi-waini tsvina isvike.

Sturge-Weber haina kufungidzirwa kuti inopfuudzwa pasi (nhaka) kuburikidza nemhuri.

Zviratidzo zveSWS zvinosanganisira:

• Port-waini tsvina (inowanzoonekwa kumusoro uye kumeso-chivharo kupfuura iyo yese muviri)
• Kufenda
• Kutemwa nemusoro
• Kuoma mitezo kana kushaya simba kudivi rimwe
• Kuremara pakudzidza
• Glaucoma (yakanyanya kukwirisa kwemvura muziso)
• Utachiona hwakaderera (hypothyroidism)

Glaucoma inogona kunge iri imwe chiratidzo chemamiriro acho.

Miedzo inogona kusanganisira:

• CT scan
• MRI scan
• X-ray

Kurapa kunoenderana nezviratidzo zvemunhu, uye zvinogona kusanganisira:

• Anticonvulsant mishonga yekubatwa
• Madonhwe eziso kana kuvhiya kurapa glaucoma
• Laser kurapa kwechiteshi-waini tsvina
• Kurapa kwepanyama kwekuoma mitezo kana kushaya simba
• Inogona kuvhiyiwa huropi kudzivirira kubata

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve SWS:

• Iyo Sturge-Weber Foundation - yakameti-weber.org
• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
• NIH / NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

SWS kazhinji haisi kutyisidzira hupenyu. Mamiriro acho anoda kuteedzerwa kweupenyu hwese. Hupenyu hwemunhu hunoenderana nekuti zviratidzo zvavo (sekubatwa) zvinogona kudzivirirwa kana kurapwa sei.

Munhu wacho anozofanirwa kushanyira chiremba weziso (ophthalmologist) kamwe chete pagore kuti arape glaucoma. Ivo zvakare vanozoda kuona chiremba wezvehutano kurapa pfari uye zvimwe zvehurongwa hwetsinga zviratidzo.

Aya matambudziko anogona kuitika:

• Isina kujairika yeropa mudziyo kukura mudehenya
• Kuenderera mberi kukura kwechiteshi-waini tsvina
• Kukurumidza kunonoka
• Emotional uye maitiro matambudziko
• Glaucoma, iyo inogona kutungamira kuhupofu
• Kuoma mitezo
• Kufenda

Mutapi wezvehutano anofanirwa kutarisa zvese zvekuzvarwa, kusanganisira chiteshi-chewaini waini. Kubatwa, matambudziko ekuona, kuoma mitezo, uye shanduko mukusvinura kana mamiriro epfungwa zvinogona kureva kuti kufukidzwa kwehuropi kunosanganisirwa. Zviratidzo izvi zvinofanirwa kuongororwa ipapo ipapo.

Iko hakuna kunozivikanwa kudzivirira.

Encephalotrigeminal angiomatosis; SWS

• Sturge-Weber syndrome - tsoka dzetsoka
• Sturge-Weber chirwere - makumbo
• Port waini tsvina pane kumeso kwemwana

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Kukura SM, Garzon MC. Vascular malformations. Mune: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. Neonatal uye Mucheche Dermatology. 3rd ed. Philadelphia, PA: Elsevier Saunders; 2015: chitsiko 22.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 614.