Ho haella ha Pyruvate kinase

Ho haella ha Pyruvate kinase ke khaello ea lefa la enzyme pyruvate kinase, e sebelisoang ke lisele tse khubelu tsa mali. Ntle le enzyme ena, lisele tse khubelu tsa mali li senyeha habonolo, ho fella ka boemo bo tlase ba lisele tsena (hemolytic anemia).

Ho haella ha Pyruvate kinase (PKD) ho fetisoa joalo ka tšobotsi e fetelletseng ea likoloi. Sena se bolela hore ngoana o tlameha ho fumana liphatsa tsa lefutso tse sa sebetseng ho motsoali ka mong ho ba le bothata.

Ho na le mefuta e fapaneng ea liphoso tse amanang le enzyme tsa sele e khubelu ea mali e ka bakang phokolo ea mali ea hemolytic. PKD ke sesosa sa bobeli se tloaelehileng haholo, kamora khaello ea glucose-6-phosphate dehydrogenase (G6PD).

PKD e fumaneha ho batho ba merabe eohle. Empa, batho ba bang, joalo ka Amish, ba na le monyetla oa ho ba le boemo bona.

Matšoao a PKD a kenyelletsa:

• Palo e tlase ea lisele tse khubelu tsa mali (anemia)
• Ho ruruha ha spleen (splenomegaly)
• 'Mala o mosehla oa letlalo, lisele tsa' mele, kapa karolo e tšoeu ea mahlo (jaundice)
• Boemo ba Neurologic, bo bitsoang kernicterus, bo amang boko
• Mokhathala, ho tepella
• Letlalo le letšo (pallor)
• Ho masea, ho se be boima le ho hola joalo ka ha ho lebelletsoe (ho hloleha ho atleha)
• Majoe a majoe, hangata ho bacha le ho feta

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele' me a botse le ho hlahloba matšoao a joalo ka spleen e holisitsoeng. Haeba PKD e belaelloa, liteko tse kanna tsa laeloa li kenyelletsa:

• Bilirubin maling
• CBC
• Ho etsa liteko tsa liphatsa tsa lefutso bakeng sa phetoho ea mofuta oa pyruvate kinase
• Teko ea mali ea Haptoglobin
• Bofokoli ba Osmotic
• Ketsahalo ea Pyruvate kinase
• Setulo sa urobilinogen

Batho ba nang le phokolo ea mali e matla ba ka hloka litšelo tsa mali. Ho tlosa spleen (splenectomy) ho ka thusa ho fokotsa tšenyo ea lisele tse khubelu tsa mali. Empa, sena ha se thuse maemong 'ohle. Ho masea a sa tsoa tsoaloa a nang le lefu la jaundice le kotsi, mofani oa thepa a ka khothaletsa tšelo ea mali. Mokhoa ona o kenyelletsa ho tlosa butle-butle mali a lesea ebe o le nkela sebaka ka mali a macha a mofani kapa lero la mali.

Motho e mong ea neng a e-na le splenectomy o lokela ho fumana ente ea pneumococcal ka linako tse khothalletsoang. Ba boetse ba lokela ho fumana lithibela-mafu ho fihlela lilemo tse 5.

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ka PKD:

• Mokhatlo oa Naha oa Mathata a Rare a Mafu - www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• Tshupiso ea Lehae la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Phello e fapana. Batho ba bang ba na le matšoao a fokolang kapa ha ba na eona. Ba bang ba na le matšoao a matla. Kalafo hangata e ka etsa hore matšoao a se ke a ba matla haholo.

Majoe a majoe ke bothata bo tloaelehileng. Li entsoe ka bilirubin e ngata haholo, e hlahisoang nakong ea phokolo ea mali ea hemolytic. Lefu le matla la pneumococcal ke bothata bo ka bang teng kamora splenectomy.

Bona mofani oa hau haeba:

• O na le jaundice kapa phokolo ea mali.
• U na le nalane ea lelapa ea lefu lena mme u rera ho ba le bana. Tlhabollo ea lefutso e ka u thusa ho tseba hore na ho tla ba bonolo hakae hore ngoana oa hau a be le PKD. U ka ithuta ka liteko tse hlahlobang mathata a liphatsa tsa lefutso, joalo ka PKD, e le hore u tsebe ho etsa qeto ea hore na u ka rata ho etsa liteko tsena.

Ho haella ha PK; PKD

Brandow AM. Ho haella ha Pyruvate kinase. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 490.1.

Gallagher PG. Hemolytic anemias: lisele tse khubelu tsa lisele tsa mali le likoli tsa metabolism. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 26th. Philadelphia, PA: Elsevier; 2020: khaolo ea 152.