Tuberous sclerosis

Tuberous sclerosis chirwere chinokanganisa ganda, huropi / huta, itsvo, moyo nemapapu. Mamiriro acho anogona zvakare kukonzera kuti mamota akure muuropi. Aya mamota ane tuber kana chimiro chakaita semidzi.

Tuberous sclerosis inzvimbo yekugara nhaka. Shanduko (shanduko) mune rimwe remaviri majeni, TSC1 uye TSC2, vane mhosva yezviitiko zvakawanda.

Mubereki mumwe chete ndiye anoda kupfuudza shanduko kuti mwana awane chirwere. Zvisinei, zvikamu zviviri kubva muzvitatu zvemhosva zvinokonzerwa nekuchinja kutsva. Muzviitiko zvakawanda, hapana nhoroondo yemhuri ye tuberous sclerosis.

Aya mamiriro ndeimwe eboka rezvirwere zvinodaidzwa neurocutaneous syndromes. Ose ari maviri ganda uye epakati tsinga system (huropi uye musana musana) zvinobatanidzwa.

Iko hakuna kuzivikanwa njodzi zviitiko, kunze kwekunge uine mubereki ane tuberous sclerosis. Pakadai, mwana wega wega ane mukana we50% wekugara nhaka chirwere.

Zviratidzo zveganda zvinosanganisira:

• Nzvimbo dzeganda chena (nekuda kwekudzikira kwe pigment) uye dzine shizha remadota kana chitarisiko checonfetti
• Zvitsvuku zvitsvuku kumeso zvine yakawanda tsinga dzeropa (kumeso angiofibromas)
• Yakasimudzwa zvigamba zveganda neorenji-peel dhizaini (shagreen mavara), kazhinji kumashure

Zviratidzo zvehuropi zvinosanganisira:

• Autism spectrum kusagadzikana
• Kukurumidza kunonoka
• Urema hwekuziva
• Kufenda

Zvimwe zviratidzo zvinosanganisira:

• Yakatemerwa zino enamel.
• Kukura kwakashata pasi kana kutenderedza nzara nezvigunwe.
• Rubber isina mamota mamota pane kana kutenderedza rurimi.
• Chirwere chemapapu chinozivikanwa seLAM (lymphangioleiomyomatosis). Izvi zvinowanzoitika kune vakadzi. Muzviitiko zvakawanda, hapana zviratidzo. Mune vamwe vanhu, izvi zvinogona kutungamira mukufema kwekufema, kukosora ropa, uye kuputsika kwemapapu.
  

Zviratidzo zvinosiyana pamunhu nemunhu. Vamwe vanhu vane njere dzakasarudzika uye hapana kubatwa. Vamwe vane hurema hwepfungwa kana kuomarara kubata-kubata.

Zviratidzo zvinogona kusanganisira:

• Asina kujairika moyo rhythm (arrhythmia)
• Calcium inoisa muuropi
• Asina kenza "tubers" muuropi
• Rubha kukura pa rurimi kana matadza
• Tumora-senge kukura (hamartoma) pane iro retina, mavara akachenuruka muziso
• Tumota dzehuropi kana itsvo

Miedzo inogona kusanganisira:

• CT scan yemusoro
• Chest CT
• Echocardiogram (Ultrasound yemoyo)
• MRI yemusoro
• Ultrasound yeitsvo
• Ultraviolet mwenje kuongororwa kweganda

Kuongororwa kweDNA kwemajini maviri anogona kukonzera chirwere ichi (TSC1 kana TSC2) inowanikwa.

Kugara uchiongorora ultrasound yeitsvo kwakakosha kuti uone kuti hapana bundu rinokura.

Iko hakuna kurapwa kunozivikanwa kwe tuberous sclerosis. Nekuti chirwere ichi chinogona kusiyana pamunhu nemunhu, kurapwa kunoenderana nezviratidzo.

• Zvichienderana nekuoma kwehurema hwepfungwa, mwana angangoda dzidzo yakasarudzika.
• Kumwe kubata kunodzorwa nemushonga (vigabatrin). Vamwe vana vangangoda kuvhiyiwa.
• Kukura kudiki kumeso (kumeso angiofibromas) kunogona kubviswa ne laser kurapwa. Uku kukura kunowanzo dzoka, uye kudzokorora kurapwa kuchazodiwa.
• Cardiac rhabdomyomas inowanzo nyangarika mushure mekuyaruka. Kuvhiya kuvabvisa hakuwanzo kudikanwa.
• Mamota ehuropi anogona kurapwa nemishonga inonzi mTOR inhibitors (sirolimus, everolimus).
• Itsvo mamota anorapwa nekuvhiyiwa, kana nekudzikisa kuwedzerwa kweropa uchishandisa akakosha x-ray matekinoroji. mTOR inhibitors iri kuongororwa seimwe kurapwa kwezvironda zveitsvo.

Kuti uwane rumwe ruzivo uye zviwanikwa, bata Tuberous Sclerosis Alliance pawww.tsalliance.org.

Vana vane hunyoro tuberous sclerosis kazhinji vanoita zvakanaka. Nekudaro, vana vane hurema hwakakomba hwepfungwa kana kubatwa kusingadzoreki kazhinji vanoda rubatsiro rweupenyu hwese.

Dzimwe nguva apo mwana anozvarwa aine chirwere chakakomba chetuberous sclerosis, mumwe wevabereki anowanikwa aine chirwere chakareruka chetuberous sclerosis iyo isina kuongororwa.

Mamota ari muchirwere ichi anowanzo kuve asiri enancer (benign). Nekudaro, mamwe mamota (akadai seitsvo kana mapundu europi) anogona kuita cancer.

Zvinetso zvinogona kusanganisira:

• Brain tumors (astrocytoma)
• Mamota emwoyo (rhabdomyoma)
• Kuremara kwakakomba kwepfungwa
• Kusabata kusingadzoreki

Fonera wako mupi wezvehutano kana:

• Chero mativi emhuri yako ane nhoroondo ye tuberous sclerosis
• Iwe unoona zviratidzo zve tuberous sclerosis mumwana wako

Dana nyanzvi yezvechibereko kana mwana wako akaonekwa aine chirwere chemwoyo rhabdomyoma. Tuberous sclerosis ndiyo inonyanya kukonzera bundu iri.

Genetic counselling inokurudzirwa kune vakaroorana vane mhuri nhoroondo ye tuberous sclerosis uye vanoda kuve nevana.

Kuongororwa kwepamuviri kunowanikwa kumhuri dzine inozivikanwa geni mutation kana nhoroondo yeichi chiitiko. Nekudaro, tuberous sclerosis inowanzo kuoneka sekuchinja kweDNA kutsva. Aya makesi haagoni kudzivirirwa.

Bourneville chirwere

• Tuberous sclerosis, angiofibromas - kumeso
• Tuberous sclerosis - hypopigmented macule

National Institute yeNeurological Dambudziko uye Stroke webhusaiti. Tuberous sclerosis chokwadi pepa. NIH kuburitsa 07-1846. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Yakagadziridzwa Kurume 2020. Yakasvika munaNovember 3, 2020.

Northrup H, Koenig MK, Pearson DA, et al. Tuberous sclerosis yakaoma. GeneReviews. Seattle (WA): Yunivhesiti yeWashington, Seattle; Chikunguru 13, 1999. Yakagadziridzwa Kubvumbi 16, 2020. PMID: 20301399 pubmed.ncbi.nlm.nih.gov/20301399/.

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.

Tsao H, Luo S. Neurofibromatosis uye tuberous sclerosis yakaoma. Mune: Bolognia JL, Schaffer JV, Cerroni L, et al, eds. Dermatology. 4th ed. Philadelphia, PA: Elsevier; 2018: chits. 61.