Ukushoda kwePyruvate kinase

Ukushoda kwePyruvate kinase ukuntuleka okuzuzwe njengefa kwe-enzyme pyruvate kinase, esetshenziswa ngamaseli abomvu egazi. Ngaphandle kwale enzyme, amangqamuzana abomvu egazi ehla kalula, okuholela ezingeni eliphansi lala maseli (i-hemolytic anemia).

Ukushoda kwePyruvate kinase (PKD) kudluliselwa phansi njengokuziphatha ngokweqile kwe-autosomal. Lokhu kusho ukuthi ingane kufanele ithole isakhi esingasebenzi kusuka kumzali ngamunye ukuze athuthukise lesi sifo.

Kunezinhlobo eziningi zokukhubazeka okuhlobene ne-enzyme yeseli elibomvu legazi elingadala i-hemolytic anemia. I-PKD iyimbangela yesibili ejwayelekile, ngemuva kokushoda kwe-glucose-6-phosphate dehydrogenase (G6PD).

I-PKD itholakala kubantu bazo zonke izinhlanga. Kepha, abantu abathile, njengama-Amish, banamathuba amaningi okuthuthukisa lesi simo.

Izimpawu ze-PKD zifaka:

• Ukubalwa okuphansi kwamaseli abomvu abomvu (i-anemia)
• Ukuvuvukala kobende (splenomegaly)
• Umbala ophuzi wesikhumba, ulwelwesi lwamafinyila, noma ingxenye emhlophe yamehlo (i-jaundice)
• Isimo se-Neurologic, esibizwa nge-kernicterus, esithinta ubuchopho
• Ukukhathala, ukukhathala
• Isikhumba esiphaphathekile (i-pallor)
• Ezinganeni, ukungakhuli kwesisindo nokukhula njengoba kulindelwe (ukwehluleka ukukhula)
• Amatshe amatshe amatshe amhlophe, imvamisa kuba kwentsha nangaphezulu

Umhlinzeki wezokunakekelwa kwempilo uzokwenza isivivinyo somzimba abuze futhi abheke izimpawu ezifana nobende obukhulisiwe. Uma kusolwa i-PKD, izivivinyo okungenzeka zi-odwe zifaka:

• Bilirubin egazini
• I-CBC
• Ukuhlolwa kofuzo lokuguqulwa kwesakhi zofuzo ku-pyruvate kinase gene
• Ukuhlolwa kwegazi le-Haptoglobin
• Ubuhle be-Osmotic
• Umsebenzi wePyruvate kinase
• Indle urobilinogen

Abantu abane-anemia enamandla bangadinga ukumpontshelwa igazi. Ukususa ubende (splenectomy) kungasiza ukunciphisa ukubhujiswa kwamaseli abomvu egazi. Kepha, lokhu akusizi kuzo zonke izimo. Ezinganeni ezisanda kuzalwa ezinezinga eliyingozi le-jaundice, umhlinzeki angancoma ukufakwa kokushintshaniswa. Le nqubo ifaka phakathi ukukhipha kancane kancane igazi losana bese ulifaka esikhundleni segazi elisha lomnikeli noma i-plasma.

Umuntu obene-splenectomy kufanele athole umuthi wokugoma we-pneumococcal ngezikhathi ezinconyiwe. Futhi kufanele bathole ama-antibiotic okuvikela kuze kube yiminyaka engu-5.

Izinsizakusebenza ezilandelayo zinganikeza imininingwane eminingi nge-PKD:

• Inhlangano Kazwelonke Yezinkinga Zezifo Ezingajwayelekile - www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• Isethenjwa Sasekhaya se-NIH / NLM - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Umphumela uyehluka. Abanye abantu banezimpawu ezimbalwa noma abanazo nhlobo. Abanye banezimpawu ezinzima. Ukwelashwa kungenza izimpawu zibe nzima kakhulu.

Ama-gallstones ayinkinga ejwayelekile. Zenziwe nge-bilirubin eningi kakhulu, ekhiqizwa ngesikhathi se-hemolytic anemia. Isifo esibi se-pneumococcal siyinkinga engenzeka ngemuva kwe-splenectomy.

Bona umhlinzeki wakho uma:

• Une-jaundice noma i-anemia.
• Unomlando womndeni walesi sifo futhi uhlela ukuba nezingane. Ukwelulekwa ngofuzo kungakusiza wazi ukuthi kungenzeka kanjani ukuthi ingane yakho ibe ne-PKD. Ungafunda futhi ngezivivinyo ezihlola ukuphazamiseka kofuzo, njenge-PKD, ukuze ukwazi ukunquma ukuthi ungathanda yini ukuthola lezi zivivinyo.

Ukushoda kwe-PK; I-PKD

IBrandow AM. Ukushoda kwePyruvate kinase. 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 490.1.

IGallagher PG. Ama-anemia we-hemolytic: ulwelwesi lwegazi elibomvu nokukhubazeka komzimba. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 152.