Isifo esingapheliyo se-granulomatous

Isifo esingapheliyo se-granulomatous (CGD) yisifo esizuzwe njengefa lapho amaseli athile omzimba engasebenzi kahle. Lokhu kuholela ekuthelelweni okuphindaphindiwe futhi okunzima.

Ku-CGD, amaseli omzimba abizwa ngama-phagocyte awakwazi ukubulala izinhlobo ezithile zamagciwane nesikhunta. Lesi sifo siholela ezifweni zesikhathi eside (ezingalapheki) neziphindaphindwayo (eziphindaphindwayo). Isimo sivame ukutholakala sisencane kakhulu ebuntwaneni. Amafomu amaMilder angatholwa phakathi neminyaka yobusha, noma lapho esemdala.

Izici zobungozi zifaka umlando womndeni wezifo eziphindaphindayo noma ezingalapheki.

Cishe uhhafu wamacala e-CGD adluliselwa emindenini njengenkambiso eyehlayo yezocansi. Lokhu kusho ukuthi abafana banamathuba amaningi okuthola lesi sifo kunamantombazane. Isakhi sofuzo esonakele sithwalwa nge-X chromosome. Abafana bane-1 X chromosome ne-1 Y chromosome. Uma umfana ene-X chromosome enofuzo olungasebenzi, angazuza lesi simo. Amantombazane anama-chromosomes ama-2 X. Uma intombazane ine-chromosome engu-1 X enofuzo olungasebenzi, enye i-chromosome engu-X ingaba nesakhi sofuzo esisebenzelayo ukuyenzela yona. Intombazane kufanele izuze ifa lohlobo X olungaphelele kumzali ngamunye ukuze ithole lesi sifo.

I-CGD ingadala izinhlobo eziningi zezifo zesikhumba okunzima ukuzelapha, kufaka phakathi:

• Amabhamuza noma izilonda ebusweni (impetigo)
• I-Eczema
• Ukukhula okugcwala ubomvu (amathumba)
• Izigaxa ezigcwala ubomvu esikhunjeni (amathumba)

I-CGD nayo ingadala:

• Uhudo oluqhubekayo
• I-lymph nodes evuvukile entanyeni
• Ukutheleleka kwamaphaphu, njenge-pneumonia noma ithumba lamaphaphu

Umhlinzeki wezokunakekelwa kwempilo uzohlola futhi angathola:

• Ukuvuvukala kwesibindi
• Ukuvuvukala kobende
• Ama-lymph node avuvukile

Kungaba nezimpawu zokutheleleka kwamathambo, ezingathinta amathambo amaningi.

Ukuhlolwa okungenziwa kufaka phakathi:

• Ukuskena kwamathambo
• I-x-ray yesifuba
• Qedela ukubalwa kwegazi (CBC)
• Ukuhlolwa kwe-cytometry yokugeleza ukusiza ukuqinisekisa lesi sifo
• Ukuhlolwa kofuzo ukuqinisekisa ukuxilongwa
• Ukuhlolwa kokusebenza kwamangqamuzana amhlophe egazi
• I-biopsy yezicubu

Ama-antibiotic asetshenziselwa ukwelapha lesi sifo, futhi angasetshenziswa futhi ukuvikela ukutheleleka. Umuthi obizwa nge-interferon-gamma nawo ungasiza ekwehliseni inani lezifo ezinzima. Ukuhlinzwa kungadingeka ukwelapha amanye amathumba.

Ukuphela kokwelapha kwe-CGD umnkantsha noma ukufakelwa kwe-stem cell.

Imithi yokwelashwa yesikhathi eside ingasiza ekwehliseni ukutheleleka, kepha ukufa kusenesikhathi kungavela ekuthelelekeni okuphindaphindiwe kwamaphaphu.

I-CGD ingadala lezi zinkinga:

• Ukulimala kwamathambo nezifo
• Izifo ezingapheli emakhaleni
• I-pneumonia elokhu ibuya futhi kunzima ukuyelapha
• Ukulimala kwamaphaphu
• Ukulimala kwesikhumba
• Ama-lymph node avuvukile ahlala evuvukile, avela kaningi, noma enza amathumba adinga ukuhlinzwa ukuze awaqede

Uma wena noma ingane yakho unalesi simo futhi usola ukuthi inyumoniya noma esinye isifo, shayela umhlinzeki wakho khona manjalo.

Tshela umhlinzeki wakho uma iphaphu, isikhumba, noma okunye ukutheleleka kungaphenduli ekwelashweni.

Ukwelulekwa ngofuzo kuyanconywa uma uhlela ukuba nezingane futhi unomlando womndeni walesi sifo. Ukuthuthuka ekuhlolweni kwezofuzo nokwanda kokusetshenziswa kwesampuli ye-chorionic villus (isivivinyo esingenziwa ngesikhathi seviki leshumi kuya kwele-12 lokukhulelwa lowesifazane) kwenze ukutholwa kwe-CGD kusenesikhathi. Noma kunjalo, le mikhuba ayikasakazeki noma ayemukelwa ngokuphelele.

I-CGD; I-granulomatosis ebulalayo yobuntwana; Isifo esingapheliyo se-granulomatous ebuntwaneni; I-granulomatosis eqhubekayo ye-septic; Ukushoda kwePhagocyte - isifo esingalapheki segranulomatous

Ukuphazamiseka komsebenzi we-phagocyte. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-25. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 169.

Ukushoda kweHolland SM, Uzel G. Phagocyte. Ku: Rich RR, Fleisher TA, Shearer WT, Schroeder JR. HW, Frew AJ, Weyand CM, ama-eds. I-Clinical Immunology: Izimiso Nokwenza. Umhlaka 5. IPhiladelphia, PA: Elsevier; 2019: isahluko 22.