Wiskott-Aldrich syndrome: incazelo isifo

Wiskott-Aldrich syndrome kuyisifo esiwufuzo esithinta abafana kuphela. It kubonakala ingane isencane futhi ngokuvamile kuholela ekufeni ngaphakathi eminyakeni emihlanu kuya kweyishumi.

Ngokokuqala ngqá sifo achazwa 1937 by wezingane German Wiscott. Wayebuka ke kusukela wezingane ezintathu, owahlupheka engapheli uhudo olunegazi, eczema nokuvuvukala njalo indlebe, nakuba odade amane ayengezansi engumqemane. Kakade ngo-1954, udokotela wezingane American amagama Aldrich wathola ukuthi isifo ngofuzo njengenhlangano X-exhumene imfanelo esikhubazayo.

Lesi sifo kuthiwa adluliselwa abafana kanti nomgodla mutating Ama-chromosomes e bangabesifazane. Isici ezindawo akunamthelela nokudlanga inkinga.

Izimpawu zesifo

Wiskott-Aldrich syndrome lihlotshaniswa enciphile platelet count. Eminyakeni yokuqala yokuphila isiguli ubukisa zimpawu ezilandelayo: abampofu igazi ekunqandeni, eczema ophikelelayo, uhudo olunegazi. Ngemva kwalokho, kukhona immunodeficiency eyinhloko. Ngenxa yokushoda T B lymphocyte umuntu kuncike zonke izinhlobo ezibangelwa amagciwane kanye nezifo ezibangelwa amagciwane. Immunodeficiency ezinganeni avuse unomphela maphakathi nendlebe ukutheleleka, inyumoniya, sinusitis, isifo sokuvuvuka nezinye izifo eziningi ezinkulu. Thina uhlushwa isifo ingozi kakhulu kunalokhu nomdlavuza. Kufanele kuqashelwe ukuthi umdlavuza ivame abadala.

Sibhekana onaso Viskota-Aldrich sifo sivame ukuba khona kuphela oluhambisana syndrome, okuholela uphethwe okungalungile. Ezimweni ezinjalo, kuphela emva ukuhlaziya DNA, lapho kungenzeka ukuhlonza isakhi sofuzo esiyimbangela yalesi sifo linqume ukwelashwa okufanelekile.

ukuhlola

• A ephelele segazi ukuhlonza nokuncipha inani platelet.
• Lolu cwaningo wegazi smear phezu ukuntula isakhi platelet.
• ukuhlaziywa kwezakhi zofuzo (kwenziwe nxa uzingela ukuguquka kwezakhi zofuzo e isakhi sofuzo esiyimbangela yalesi nokwakheka iphrotheni esegazini).
• Icacisa ezingeni immunoglobulin.
• Ukuqhuba ukuxilongwa okufanele kwangaphambi kokubeletha, ukukhomba Wiskott-Aldrich syndrome ekukhulelweni ekuseni.
• Ukunqunywa amaprotheni ku amazinga igazi Wiskott-Aldrich syndrome.

ukwelashwa

Ngeshwa, isayensi yesimanje akakamtholi ikhambi le isifo esithena amandla. Kuyaziwa ukuthi platelet ayafa e ubende, ukuze iziguli abaye batholakala bene-"Wiskott-Aldrich Syndrome", isuswe ngu umzimba. Futhi iziguli waqala ukuzizwa engcono kakhulu. ukumpontshelwa njalo immunoglobulin kanye nokuqokwa kwama-antibiotic ezifanele futhi ngcono isimo jikelele isiguli. Okwamanje, umkhuba ethula iziguli umnkantsha of stem cells enempilo. Kodwa ngenkathi le ndlela Kwenziwa kuphela isilingo. Futhi imibhangqwana abaye baba nale sifo ngo-umndeni, kutuswa ukuba kudlule bonke ukuhlolwa ezidingekayo ngaphambi uhlela ukukhulelwa.