Pyruvate kinase kushomeka

Pyruvate kinase kushomeka kushaya nhaka kweiyo enzyme pyruvate kinase, iyo inoshandiswa nemasero matsvuku eropa. Pasina iyi enzyme, masero matsvuku eropa anoputsika zviri nyore, zvichikonzera mwero wakaderera wemasero aya (hemolytic anemia).

Pyruvate kinase kushomeka (PKD) inopfuudzwa pasi seyotomomal recessive hunhu. Izvi zvinoreva kuti mwana anofanirwa kugashira isiri-inoshanda geni kubva kumubereki wega wega kukudziridza kusagadzikana.

Kune akawanda marudzi akasiyana ehurema hwakanangana ne enzyme yesero dzvuku reropa iro rinogona kukonzera hemolytic anemia. PKD ndiyo yechipiri inonyanya kukonzeresa, mushure mekushomeka kweglucose-6-phosphate dehydrogenase (G6PD).

PKD inowanikwa muvanhu vemarudzi ese. Asi, vamwe vanhu, vakadai seAmish, vanogona kuita mamiriro acho.

Zviratidzo zvePKD zvinosanganisira:

• Kuverenga kushoma kwemasero matsvuku eropa (anemia)
• Kuzvimba kwesle (splenomegaly)
• Yero ruvara rweganda, mucous membranes, kana chena chikamu chemeso (jaundice)
• Neurologic mamiriro, anonzi kernicterus, ayo anokanganisa uropi
• Kuneta, kuneta
• Ganda rakachenuruka (pallor)
• Mune vacheche, kusawana huremu nekukura sezvinotarisirwa (kutadza kubudirira)
• Matombo ematombo, kazhinji ari muchiri kuyaruka nekure

Anopa hutano anoita bvunzo dzemuviri uye obvunza nezvazvo uye otarisa zviratidzo zvakaita seakakura spleen. Kana PKD ichifungidzirwa, bvunzo dzinogona kunge dzakarairwa dzinosanganisira:

• Bilirubin muropa
• CBC
• Genetic kuyedza kwekuchinja mune pyruvate kinase geni
• Haptoglobin kuongororwa ropa
• Osmotic fragility
• Pyruvate kinase chiitiko
• Chituru urobilinogen

Vanhu vane anemia yakakomba vangangoda kuwedzerwa ropa. Kubvisa spleen (splenectomy) kunogona kubatsira kudzikisa kuparadzwa kwemasero matsvuku eropa. Asi, izvi hazvibatsire mune zvese zviitiko. Mune vacheche vane huwandu hunotyisa hwejaundice, mupi anogona kukurudzira kuwedzerwa kuwedzerwa. Maitiro aya anosanganisira kubvisa zvishoma nezvishoma ropa remucheche uye kuritsiva nerutsva rweanopa ropa kana plasma.

Mumwe munhu aive ne splenectomy anofanirwa kugamuchira mushonga wepneumococcal panguva dzakakurudzirwa. Ivo zvakare vanofanirwa kugamuchira ekudzivirira mabhakitiriya kusvika makore mashanu.

Izvi zvinotevera zviwanikwa zvinogona kupa rumwe ruzivo nezve PKD:

• Sangano reNyika reRare Zvirwere Zvirwere - www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• NIH / NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Mhedzisiro yacho inosiyana. Vamwe vanhu vane mashoma kana vasina zviratidzo. Vamwe vane zviratidzo zvakakomba. Kurapa kunogona kuita kuti zviratidzo zvisanyanya.

Matombo ematombo idambudziko rakajairika. Izvo zvinogadzirwa neyakawandisa bilirubin, iyo inogadzirwa panguva yehemolytic anemia. Yakakomba pneumococcal chirwere ingangoita kusangana mushure me splenectomy.

Ona mupiki wako kana:

• Une jaundice kana kupererwa neropa.
• Une nhoroondo yemhuri yechirwere ichi uye uri kuronga kuita vana. Kurairidzwa kwemajini kunogona kukubatsira iwe kuti uzive kuti zvingangoita sei kuti mwana wako ave nePKD. Iwe unogona zvakare kudzidza nezve bvunzo dzinotarisa kusagadzikana kwemajini, senge PKD, kuitira kuti iwe ugone kusarudza kana iwe uchida kuve neiyi bvunzo.

PK kushomeka; PKD

Brandow AM. Pyruvate kinase kushomeka. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsipa 490.1.

Gallagher PG. Hemolytic anemias: red sero membrane membrane uye metabolic kukanganisa. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 26th ed. Philadelphia, PA: Elsevier; 2020: chitsiko 152.