Isifo sokuqina kwemithambo (tuberous sclerosis)

I-Tuberous sclerosis yisifo sofuzo esithinta isikhumba, ubuchopho / uhlelo lwezinzwa, izinso, inhliziyo namaphaphu. Lesi simo singadala nokuthi izicubu zikhule ebuchosheni. Lezi zicubu zinesigaxa noma ukubukeka okunjengezimpande.

I-tuberous sclerosis yisimo esizuzwe njengefa. Izinguquko (ukuguqulwa) kolunye kwezakhi zofuzo ezimbili, TSC1 futhi TSC2, zibhekene nezimo eziningi.

Munye kuphela umzali odinga ukudlulisa ukuguquka kwengane ukuze ithole lesi sifo. Kodwa-ke, izingxenye ezimbili kwezintathu zamacala zibangelwa ukuguqulwa okusha. Ezimweni eziningi, awukho umlando womndeni we-tuberous sclerosis.

Lesi simo singesinye sezifo ezibizwa ngama-neurocutaneous syndromes. Kokubili isikhumba nesistimu yezinzwa emaphakathi (ubuchopho nomgogodla) kuyabandakanyeka.

Azikho izinto ezinobungozi ezaziwayo, ngaphandle kokuba nomzali one-tuberous sclerosis. Uma kunjalo, ingane ngayinye inethuba elingu-50% lokuzuza lesi sifo njengefa.

Izimpawu zesikhumba zifaka:

• Izindawo zesikhumba ezimhlophe (ngenxa yokwehla kombala) futhi zineqabunga lomlotha noma ukubukeka kwe-confetti
• Amachashazi abomvu ebusweni aqukethe imithambo yegazi eminingi (ama-angiofibromas ebusweni)
• Izikhumba ezinamabala ezikhuphukile ezinokuthungwa okusawolintshi (amabala we-shagreen), kaningi ngemuva

Izimpawu zobuchopho zifaka:

• Ukuphazamiseka kwe-Autism spectrum
• Ukubambezeleka kwentuthuko
• Ukukhubazeka kwengqondo
• Ukuquleka

Ezinye izimpawu zifaka:

• Uqweqwe lwawo lwamazinyo.
• Ukukhula okuluhlaza ngaphansi noma eduze kwezinzipho zeminwe nezinzwani.
• Izicubu ezingenamdlavuza zenjoloba noma ezungeze ulimi.
• Isifo samaphaphu esaziwa nge-LAM (lymphangioleiomyomatosis). Lokhu kuvame kakhulu kwabesifazane. Ezimweni eziningi, azikho izimpawu. Kwabanye abantu, lokhu kungaholela ekuphefumuleni, ukuphefumula igazi, nokuwa kwamaphaphu.
  

Izimpawu ziyahlukahluka kuye ngomuntu. Abanye abantu banobuhlakani obujwayelekile futhi abanakho ukuquleka. Abanye banokukhubazeka kwengqondo noma ukuquleka okunzima ukulawula.

Izimpawu zingafaka:

• Isigqi senhliziyo esingajwayelekile (arrhythmia)
• Ukufakwa kwe-calcium ebuchosheni
• "Izilimo eziyizigaxa" ezingadabukisi ebuchosheni
• Ukukhula kwerabha olimini noma ezinsinini
• Ukukhula okufana nesimila (i-hamartoma) kwi-retina, amabala akhanyayo esweni
• Izimila zobuchopho noma izinso

Ukuhlolwa kungafaka:

• I-CT scan yekhanda
• Isifuba CT
• I-Echocardiogram (i-ultrasound yenhliziyo)
• I-MRI yekhanda
• I-Ultrasound yezinso
• Ukuhlolwa kwesikhumba okukhanya kwe-Ultraviolet

Ukuhlolelwa i-DNA kwezakhi zofuzo ezimbili ezingadala lesi sifo (TSC1 noma TSC2) iyatholakala.

Ukuhlolwa njalo kwezinso kwe-ultrasound kubalulekile ukuqinisekisa ukuthi akukho ukukhula kwesimila.

Alikho ikhambi elaziwayo le-tuberous sclerosis. Ngoba lesi sifo singahluka kumuntu nomuntu, ukwelashwa kusekelwe ezinkampanini.

• Ngokuya ngobukhulu bokukhubazeka kwengqondo, ingane ingadinga imfundo ekhethekile.
• Okunye ukuquleka kulawulwa ngomuthi (vigabatrin). Ezinye izingane zingadinga ukuhlinzwa.
• Ukukhula okuncane ebusweni (ama-angiofibromas ebusweni) kungasuswa ngokwelashwa kwelaser. Lokhu kukhula kuvame ukubuya, futhi ukuphinda ukwelashwa kuzodingeka.
• Ama-rhabdomyomas enhliziyo avame ukunyamalala ngemuva kokuthomba. Ukuhlinzwa ukuze ususwe ngokuvamile akudingeki.
• Izicubu zobuchopho zingelashwa ngemithi ebizwa nge-mTOR inhibitors (sirolimus, everolimus).
• Izicubu zezinso zilashwa ngokuhlinzwa, noma ngokunciphisa ukuphakelwa kwegazi kusetshenziswa izindlela ezikhethekile ze-x-ray. Ama-mTOR inhibitors afundelwa njengenye indlela yokwelapha izicubu zezinso.

Ngeminye imininingwane nezinsizakusebenza, thintana neTuberous Sclerosis Alliance ku: www.tsalliance.org.

Izingane ezine-tuberous sclerosis emnene zivame ukwenza kahle. Kodwa-ke, izingane ezinokukhubazeka okukhulu kwengqondo noma ukuquleka okungalawuleki kaningi zidinga usizo lwempilo yonke.

Kwesinye isikhathi lapho ingane izalwa inesifo esibucayi se-tuberous sclerosis, omunye wabazali kutholakala ukuthi ubenesifo esincane se-tuberous sclerosis esingatholakalanga.

Izicubu ezikulesi sifo zivame ukungabi nomdlavuza (benign). Kodwa-ke, ezinye izicubu (ezinjengezinso noma izicubu zobuchopho) zingaba nomdlavuza.

Izinkinga zingafaka:

• Izicubu zobuchopho (i-astrocytoma)
• Izicubu zenhliziyo (rhabdomyoma)
• Ukukhubazeka okukhulu kwengqondo
• Ukuquleka okungalawuleki

Shayela umhlinzeki wakho wezempilo uma:

• Noma iluphi uhlangothi lomndeni wakho lunomlando we-tuberous sclerosis
• Uyazibona izimpawu zesifo sofuba emntwaneni wakho

Shayela uchwepheshe wezofuzo uma ingane yakho kutholakala ukuthi ine-rhabdomyoma yenhliziyo. I-tuberous sclerosis iyimbangela ehamba phambili yalesi sifo.

Ukwelulekwa ngofuzo kunconyelwa imibhangqwana enomlando womndeni wesifo sofuba futhi efuna ukuba nezingane.

Ukuxilongwa ngaphambi kokubeletha kuyatholakala emindenini enokuguquka kwezakhi zofuzo noma umlando walesi simo. Kodwa-ke, i-tuberous sclerosis ivame ukuvela njengokuguqulwa okusha kwe-DNA. Lawa macala awavikeleki.

Isifo seBourneville

• I-tuberous sclerosis, i-angiofibromas - ubuso
• I-tuberous sclerosis - i-macule ene-hypopigmented

I-National Institute of Neurological Disorders and Stroke iwebhusayithi. Ishidi lamaqiniso le-Tuberous sclerosis. Ukushicilelwa kwe-NIH 07-1846. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. Kubuyekezwe uMashi 2020. Kufinyelelwe ngoNovemba 3, 2020.

UNorthrup H, uKoenig MK, uPearson DA, et al. I-Tuberous sclerosis complex. Ukubuyekezwa kweGeneReviews. Seattle (WA): Inyuvesi yase Washington, Seattle; Julayi 13, 1999. Kubuyekezwe u-Ephreli 16, 2020. PMID: 20301399 pubmed.ncbi.nlm.nih.gov/20301399/.

USahin M, Ullrich N, Srivastava S, Pinto A. Ama-syndromes we-Neurocutaneous. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 614.

I-Tsao H, Luo S. Neurofibromatosis kanye ne-tuberous sclerosis complex. Ku: Bolognia JL, Schaffer JV, Cerroni L, et al, ama-eds. Isikhumba. Umhla wesi-4. IPhiladelphia, PA: Elsevier; 2018: isahluko 61.