Ubu-Albino

I-Albinism yiphutha lokukhiqizwa kwe-melanin. I-Melanin yinto engokwemvelo emzimbeni enikeza umbala ezinweleni zakho, esikhunjeni nase-iris yeso.

I-Albinism yenzeka lapho okunye kokukhubazeka kwezakhi zofuzo kwenza umzimba ungakwazi ukukhiqiza noma ukusabalalisa i-melanin.

Lokhu kukhubazeka kungadluliswa (kuzuzwe njengefa) ngemindeni.

Uhlobo olubi kakhulu lwe-albinism lubizwa ngokuthi yi-oculocutaneous albinism. Abantu abanalolu hlobo lwama-albino banezinwele ezimhlophe noma ezibomvana, isikhumba nombala we-iris. Banenkinga yokubona.

Olunye uhlobo lwe-albinism, olubizwa nge-ocular albinism type 1 (OA1), luthinta amehlo kuphela. Isikhumba somuntu nombala wamehlo kuvame ukuba sebangeni elijwayelekile. Kodwa-ke, ukuhlolwa kwamehlo kuzokhombisa ukuthi awukho umbala ngemuva kweso (i-retina).

IHermansky-Pudlak syndrome (HPS) iwuhlobo lwe-albinism olubangelwa ukushintshela kufuzo olulodwa. Kungenzeka ngesifo sokopha, kanye namaphaphu, izinso nezifo zamathumbu.

Umuntu one-albinism angaba nenye yalezi zimpawu:

• Awukho umbala ezinweleni, esikhumbeni, noma ku-iris yeso
• Ikhanya ngaphezu kwesikhumba nezinwele ezijwayelekile
• Amachashazi ombala wesikhumba olahlekile

Izinhlobo eziningi ze-albinism zihambisana nalezi zimpawu ezilandelayo:

• Amehlo awele
• Ukuzwela ukukhanya
• Ukunyakaza kweso okusheshayo
• Izinkinga zombono, noma ubumpumputhe obusebenzayo

Ukuhlolwa kofuzo kunikeza indlela enembile kunazo zonke yokuxilonga i-albinism. Ukuhlolwa okunjalo kuyasiza uma unomlando womndeni we-albinism. Kuyasiza futhi emaqenjini athile abantu abaziwayo ukuthi bathola lesi sifo.

Umhlinzeki wakho wezokunakekelwa kwempilo angahle ahlolisise isimo ngokuya ngokubukeka kwesikhumba, izinwele namehlo akho. Udokotela wamehlo obizwa nge-ophthalmologist angenza i-electroretinogram. Lesi isivivinyo esingaveza izinkinga zombono ezihlobene ne-albinism. Isivivinyo esibizwa ngokuthi yi-visual evoked potential test singasiza kakhulu lapho ukuxilongwa kungaqinisekile.

Umgomo wokwelashwa ukukhulula izimpawu.Kuzoya ngokuthi isifo sibi kangakanani.

Ukwelashwa kubandakanya ukuvikela isikhumba namehlo elangeni. Ukwenza lokhu:

• Nciphisa ubungozi bokushiswa yilanga ngokugwema ilanga, usebenzisa i-sunscreen, nokumboza ngokuphelele ngezingubo lapho uvezwa yilanga.
• Sebenzisa i-sunscreen ene-high sun protection factor (SPF).
• Gqoka izibuko zelanga (i-UV ivikelwe) ukusiza ukukhulula ukuzwela kokukhanya.

Izibuko zivame ukunikezwa ukulungisa izinkinga zombono nokuma kwamehlo. Ukuhlinzwa kwemisipha yamehlo kwesinye isikhathi kunconywa ukulungisa ukunyakaza kwamehlo okungajwayelekile.

Amaqembu alandelayo anganikeza imininingwane eminingi nezinsizakusebenza:

• Inhlangano Kazwelonke Ye-Albinism ne-Hypopigmentation - www.albinism.org
• Isethenjwa Sasekhaya se-NIH / NLM - ghr.nlm.nih.gov/condition/ocular-albinism

Ubu-Albino abuvamile ukuthinta isikhathi sokuphila. Kodwa-ke, i-HPS inganciphisa isikhathi sokuphila komuntu ngenxa yesifo samaphaphu noma izinkinga zokopha.

Abantu abane-albinism kungenzeka bakhawulelwe emisebenzini yabo ngoba abakwazi ukubekezelela ilanga.

Lezi zinkinga zingenzeka:

• Ukwehla kokubona, ukungaboni
• Umdlavuza wesikhumba

Shayela umhlinzeki wakho uma une-albinism noma izimpawu ezifana nokuzwela okukhanyayo okudala ukungakhululeki. Fonela futhi uma ubona noma yiziphi izinguquko zesikhumba ezingaba uphawu lokuqala lomdlavuza wesikhumba.

Ngenxa yokuthi i-albinism izuzwe njengefa, ukwelulekwa ngezakhi zofuzo kubalulekile. Abantu abanomlando womndeni we-albinism noma imibala elula kakhulu kufanele bacabangele ukwelulekwa ngezakhi zofuzo.

I-oculocutaneous albinism; I-Ocular albinism

• I-Melanin

UCheng KP. I-Ophthalmology. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 20.

UJoyce JC. Izilonda ezine-hypopigmented. 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 672.

UPaller AS, uMancini AJ. Ukuphazamiseka kombala. Ku: Paller AS, Mancini AJ, ama-eds. IHurwitz Clinical Pediatric Dermatology. Umhlaka 5. IPhiladelphia, PA: Elsevier; 2016: isahluko 11.