Ilifa elifa ngokufa elingu-telangiectasia

I-Terediectasia hemorrhagic telangiectasia (HHT) sisifo esifa njengelifa kwimithambo yegazi enokubangela ukopha kakhulu.

I-HHT idluliswa kwiintsapho ezikwimo ye-autosomal ephezulu. Oku kuthetha ukuba ufuzo olungaqhelekanga luyafuneka kumzali omnye kuphela ukuze usifumane esi sifo.

Izazinzulu zichonge iijini ezine ezichaphazelekayo kule meko. Zonke ezi zofuzo zibonakala zibalulekile kwimithambo yegazi ukuze ikhule kakuhle. Utshintsho kuyo nayiphi na kwezi zofuzo luxanduva lwe-HHT.

Abantu abane-HHT banokuphuhlisa imithambo yegazi engaqhelekanga kwiindawo ezininzi zomzimba. Ezi nqanawa zibizwa ngokuba yi-arteriovenous malformations (AVMs).

Ukuba zikulusu, zibizwa ngokuba zii-telangiectasias. Ezona ndawo zixhaphakileyo zibandakanya imilebe, ulwimi, iindlebe kunye neminwe. Imithambo yegazi engaqhelekanga inokukhula kwingqondo, imiphunga, isibindi, amathumbu, okanye ezinye iindawo.

Iimpawu zesi sifo zibandakanya:

• Ukuphuma kweempumlo rhoqo kubantwana
• Ukopha kwithumbu lesisu (GI), kubandakanya ukulahleka kwegazi esitofini, okanye ilindle emnyama okanye emnyama
• Ukuxhuzula okanye ukungachazeki, ukubetha okuncinci (ukuphuma kwegazi kwingqondo)
• Ukuqhawukelwa ngumphefumlo
• Ukwandiswa kwesibindi
• Ukumelwa yintliziyo
• I-anemia ibangelwa yintsimbi ephantsi

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kwaye abuze malunga neempawu zakho. Umboneleli onamava unokufumana i-telangiectases ngexesha loviwo lomzimba. Rhoqo kukho imbali yosapho yale meko.

Uvavanyo lubandakanya:

• Uvavanyo lwegesi yegazi
• Uvavanyo lwegazi
• Ukujonga uvavanyo lwentliziyo ebizwa ngokuba yi-echocardiogram
• I-Endoscopy, esebenzisa ikhamera encinci encanyathiselwe kumbhobho omncinci ukujonga ngaphakathi komzimba wakho
• I-MRI yokufumanisa ii-AVM kwingqondo
• I-CT okanye i-ultrasound scans ukufumana ii-AVM kwisibindi

Uvavanyo lwemfuzo luyafumaneka ukukhangela utshintsho kwimfuza ehambelana nesi sifo.

Unyango lunokubandakanya:

• Utyando lokunyanga ukopha kwezinye iindawo
• I-Electrocautery (ukufudumeza izicubu ngombane) okanye utyando lwe-laser ukunyanga ukuphuma kwempumlo okanye nzima
• I-Endovascular embolization (ukujoba into ngokusebenzisa ityhubhu encinci) ukunyanga imithambo yegazi engaqhelekanga kwingqondo nakwezinye iindawo zomzimba

Abanye abantu baphendula kunyango lwe-estrogen, olunokuthi lunciphise iziqwengana zokopha. Intsimbi nayo inokunikezelwa ukuba kukho ukulahleka kwegazi okuninzi, okukhokelela kwi-anemia. Kuphephe ukuthatha amayeza okucheba igazi. Amanye amachiza achaphazela ukukhula kwemithambo yegazi afundwa njengonyango olulandelayo.

Abanye abantu banokufuna ukuthatha ii-antibiotics ngaphambi kokuba benze umsebenzi wamazinyo okanye utyando. Abantu abanee-AVM zemiphunga kufuneka baphephe ukuntywila ekukhuseleni ukuthintela ukugula okungafunekiyo (ukugoba). Buza umboneleli wakho ukuba zeziphi ezinye iindlela zokukhusela omele uzithathe.

Ezi zixhobo zinokubonelela ngolwazi oluthe kratya kwi-HHT:

• Amaziko oLawulo lweNtsholongwane kunye noThintelo- www.cdc.gov/ncbddd/hht
• Unyango lwe-HHT ngonyango-htht.org
• Umbutho weSizwe woNxunguphalo oluNqabileyo- rarediseases.org/rare-diseases/redited-hemorrhagic-telangiectasia

Abantu abanesi sifo banokuphila ubomi obuqhelekileyo, kuxhomekeke kwindawo ekuyo ii-AVM emzimbeni.

Ezi ngxaki zinokwenzeka:

• Ukumelwa yintliziyo
• Uxinzelelo lwegazi oluphezulu emiphungeni (uxinzelelo lwegazi)
• Ukopha ngaphakathi
• Ukuqhawukelwa ngumphefumlo
• Ukubetha

Tsalela umnikezeli wakho ukuba wena okanye umntwana wakho uhlala uphuma igazi empumlweni okanye ezinye iimpawu zesi sifo.

Ukucebisa ngemfuza kuyacetyiswa kwizibini ezifuna ukuba nabantwana kwaye ezinembali yosapho ye-HHT. Ukuba unale meko, unyango lwamayeza lunokuthintela iintlobo ezithile zokubetha kunye nokusilela kwentliziyo.

IHHT; Isifo sika-Osler-Weber-Rendu; Isifo sika-Osler-Weber-Rendu; Isifo sikaRendu-Osler-Weber

• Inkqubo yokujikeleza
• Imithambo yengqondo

UBrandt LJ, Aroniadis OC. Ukuphazamiseka kwemithambo yephecana lesisu. Ku: UFeldman M, uFriedman LS, uBrandt LJ, ii-eds. Sleisenger kunye neFordtran's Gastrointestinal and Liver Disease. Ngomhla we-10. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 37.

I-Cappell MS, i-Lebwohl O. I-telangiectasia eyophayo yelifa kwiLebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, eds. Unyango lwezifo zolusu: Amacandelo oBuchule oNyango. Ngomhla we-4. IPhiladelphia, PA: Elsevier Saunders; 2014: isahluko 98.

UMcDonald J, uPyeritz RE. Ilifa elifa ngokufa elingu-telangiectasia. Ku: UAdam MP, uArdinger HH, uPagon RA, et al, ii-eds. Uhlolo lwe-Gene [i-Intanethi]. Seattle, WA: IYunivesithi yaseWashington, Seattle; Ngo-1993-2019. Ukuhlaziywa ngoFebruwari 2, 2017. Kufikeleleke ngoMeyi 6, 2019.