Pyruvate kinase tsis muaj peev xwm

Pyruvate kinase deficiency yog qhov muaj keeb kwm tsis txaus ntawm pyruvate kinase muaj enzyme, uas yog siv los ntawm cov ntshav liab. Yog tsis muaj lub enzyme no, cov ntshav liab yuav tawg ua kom yooj yim, uas ua rau cov qe ntshav tsawg (ntshav tsis txaus ntshav).

Pyruvate kinase deficiency (PKD) tau dhau mus ua ib qho kev rov qab zoo ntawm lub cev. Qhov no txhais tau hais tias ib tug menyuam yuav tsum tau txais ib lub cev tsis ua haujlwm los ntawm leej niam leej txiv los tsim tus kabmob.

Muaj ntau ntau yam ntawm cov kab mob enzyme-cuam tshuam los ntawm cov ntshav liab uas tuaj yeem ua rau tus mob ntshav qab zib (hemolytic anemia). PKD yog qhov ua rau ntau yam thib ob, tom qab ua qabzib-6-phosphate dehydrogenase (G6PD) tsis txaus.

PKD pom nyob hauv cov neeg ntawm txhua haiv neeg. Tab sis, qee cov neeg, xws li Amish, yog cov neeg muaj tus mob no ntau dua.

Cov tsos mob ntawm PKD suav nrog:

• Kev suav tsawg ntawm cov ntshav liab uas tsis muaj ntshav qab zib (kuaj ntshav liab)
• P o ntawm spleen (splenomegaly)
• Daj daj ntawm daim tawv nqaij, tawv nqaij, lossis dawb ntawm lub qhov muag (daj)
• Mob puas siab ntsws (neurologic), hu ua kernicterus, uas cuam tshuam rau lub hlwb
• Qaug zog, qaug zog
• Tawv nqaij daj (pallor)
• Hauv cov menyuam mos, tsis nce phaus thiab loj hlob raws li kev cia siab (tsis ua haujlwm)
• Gallstones, feem ntau yog rau cov hluas thiab cov laus dua

Tus kws kho mob yuav kuaj mob lub cev thiab nug txog thiab kuaj seb puas muaj cov tsos mob xws li mob hnoos qeev. Yog tias lub PKD xav tias tsam no, kev ntsuam xyuas uas yuav zoo yuav xam nrog rau:

• Bilirubin nyob rau hauv cov ntshav
• CBC
• Kev kuaj caj ces rau kev sib faib hauv keeb pyruvate kinase
• Kuaj ntshav Haptoglobin
• Osmotic tsis muaj zog
• Kev ua haujlwm Pyruvate kinase
• Quav urobilinogen

Cov neeg muaj ntshav tsis txaus yuav tsum tau txhaj ntshav ntxiv. Kev tshem tawm tus hnoos qeev (splenectomy) tuaj yeem pab txo kev puas tsuaj ntawm cov ntshav liab. Tab sis, qhov no tsis pab txhua qhov teeb meem. Hauv cov menyuam mos uas muaj lub ntsej muag txaus ntshai, tus kws kho mob yuav pom zoo kom hloov ntshav ntxiv. Tus txheej txheem no koom nrog maj mam tshem cov ntshav cov menyuam thiab hloov nws nrog cov ntshav pub dawb lossis ntshav tshiab.

Qee tus neeg uas tau mob txha caj qaum yuav tsum tau txais tshuaj tiv thaiv tus mob pneumococcal ntawm cov sij hawm xav tau. Lawv kuj yuav tsum tau txais cov tshuaj tiv thaiv tiv thaiv txog thaum muaj hnub nyoog 5 xyoo.

Cov chaw pabcuam hauv qab no tuaj yeem muab cov ntaub ntawv qhia ntxiv ntawm PKD:

• Koom Haum Koom Tes rau Kab Mob Tsis Muaj Kab Mob - www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• NIH / NLM Genetics Hauv Tsev Kev Pom Zoo - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Qhov tshwm sim sib txawv. Qee tus neeg muaj ob peb lossis tsis muaj tsos mob. Lwm tus muaj cov tsos mob hnyav. Kev kho kho feem ntau tuaj yeem ua rau cov tsos mob hnyav dua.

Gallstones yog qhov teeb meem uas ib txwm muaj. Lawv tau ua los ntawm cov bilirubin ntau dhau lawm, uas yog tsim tawm thaum lub sijhawm kuaj ntshav tsis huv. Kab mob pneumococcal mob hnyav tuaj yeem yog qhov kev phom sij tuaj yeem tshwm sim tom qab mob splenectomy.

Mus ntsib koj tus kws khomob yog:

• Koj muaj jaundice lossis anemia.
• Koj muaj ib tsev neeg muaj keeb kwm muaj qhov tsis zoo no thiab npaj yuav muaj me nyuam. Kev pab tswv yim rau caj ces tuaj yeem pab koj paub tias yuav ua li cas koj tus menyuam yuav muaj PKD. Koj tseem tuaj yeem kawm txog cov kev ntsuas uas tshawb xyuas cov kev mob caj ces, xws li PKD, kom koj tuaj yeem txiav txim siab yog tias koj xav muaj cov kev kuaj no.

PK tsis txaus; PKD

Brandow AM. Pyruvate kinase tsis muaj peev xwm. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 490.1.

Gallagher PG. Hemolytic anemias: lub ntsej muag ntshav liab thiab cov teeb meem ntawm metabolic. Hauv: Goldman L, Schafer AI, eds. Goldman-Cecil TshuajCov. 26th ed. Philadelphia, PA: Elsevier; 2020: chap 152.