Ukusilela kwePyruvate kinase

Ukusilela kwePyruvate kinase kukuswela ilifa le-enzyme pyruvate kinase, esetyenziswa ziiseli ezibomvu zegazi. Ngaphandle kwale enzyme, iiseli ezibomvu zegazi zihla ngokulula, zikhokelela kwinqanaba elisezantsi lezi seli (hemolytic anemia).

Ukunqongophala kwePyruvate kinase (PKD) kudluliswa njengesiqhelo sokuhamba ngokuzimela. Oku kuthetha ukuba umntwana kufuneka afumane uhlobo olungasebenziyo kumzali ngamnye ukuze akhule engalunganga.

Zininzi iintlobo ezahlukeneyo zeziphene ezinxulumene ne-enzyme yeseli ebomvu enokubangela i-hemolytic anemia. I-PKD sesona sizathu sixhaphakileyo, emva kokusilela kweglucose-6-phosphate dehydrogenase (G6PD).

I-PKD ifumaneka kubantu bazo zonke iintlanga. Kodwa, abantu abathile, abanjengoAmish, kunokwenzeka ngakumbi ukuba baphuhlise imeko.

Iimpawu zePKD zibandakanya:

• Inani eliphantsi leeseli ezibomvu ezisegazini (i-anemia)
• Ukudumba kwepleen (splenomegaly)
• Umbala omthubi wolusu, inwebu yangaphakathi, okanye inwebu emhlophe yamehlo (i-jaundice)
• Imeko ye-Neurologic, ebizwa ngokuba yi-kernicterus, echaphazela ingqondo
• Ukukhathala, ukonqena
• Ulusu oluthuthu (pallor)
• Kubantwana, bangafumani ubunzima kunye nokukhula njengoko kulindelwe (ukusilela ukukhula)
• Amatye egallstones, ihlala ikwishumi elivisayo nangaphezulu

Umboneleli wezempilo uya kwenza uvavanyo lomzimba kwaye abuze malunga kwaye ajonge iimpawu ezinje ngepeni eyandisiweyo. Ukuba i-PKD iyarhanelwa, iimvavanyo ezinokuthi zi-odolwe zibandakanya:

• Bilirubin egazini
• I-CBC
• Uvavanyo lwe-Genetic lokutshintsha kohlobo lwe-pyruvate kinase
• Uvavanyo lwegazi lweHaptoglobin
• Ubuhle be-Osmotic
• Umsebenzi wePyruvate kinase
• Ilindle urobilinogen

Abantu abane-anemia enzima banokufuna ukutofelwa igazi. Ukususa udakada (splenectomy) kunokunceda ukunciphisa ukutshatyalaliswa kweeseli ezibomvu zegazi. Kodwa, oku akuncedi kuzo zonke iimeko. Kwiintsana ezisandul 'ukuzalwa kunye nenqanaba eliyingozi le-jaundice, umboneleli unokucebisa ukutshintshwa kwegazi. Le nkqubo ibandakanya ukususwa kancinci kwegazi losana kwaye endaweni yalo kufakwe igazi lomnikeli okanye iplasma entsha.

Umntu owayene-splenectomy kufuneka afumane isitofu sokugonya se-pneumococcal ngamaxesha amiselweyo. Kwakhona kufuneka bafumane i-antibiotics yokukhusela kude kube yiminyaka emi-5.

Ezi zixhobo zilandelayo zinokubonelela ngolwazi oluthe kratya kwi-PKD:

• Umbutho weSizwe wezifo ezinqabileyo zezifo- www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• Isalathiso sasekhaya se-NIH / NLM yemfuzo - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Iziphumo ziyahluka. Abanye abantu baneempawu ezimbalwa okanye abanazo kwaphela. Abanye baneempawu ezinzima. Unyango lunokwenza ukuba iimpawu zingaphantsi kakhulu.

Gallstones yingxaki eqhelekileyo. Zenziwe nge-bilirubin eninzi kakhulu, eveliswa ngexesha le-hemolytic anemia. Isifo esibuhlungu se-pneumococcal sisinto esinokubakho emva kwe-splenectomy.

Jonga umboneleli wakho ukuba:

• Unayo i-jaundice okanye i-anemia.
• Unembali yosapho kwesi sifo kwaye uceba ukuba nabantwana. Ukucebisa ngemfuza kungakunceda ukuba ubenamathuba angakanani ukuba umntwana wakho abe ne-PKD. Unako nokufunda malunga neemvavanyo ezijonga ukuphazamiseka kwemfuzo, ezinje nge-PKD, ukuze ukwazi ukuthatha isigqibo sokuba ungathanda na ukuvavanywa.

Ukusilela kwe-PK; PKD

IBrandow AM. Ukusilela kwePyruvate kinase. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 490.1.

IGallagher PG. I-hemolytic anemias: inwebu ebomvu yegazi kunye neziphene kwimetabolism. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahl. 152.