Kuperewera kwa Pyruvate kinase

Kuperewera kwa Pyruvate kinase ndi kusowa kwa cholowa cha enzyme pyruvate kinase, chomwe chimagwiritsidwa ntchito ndi maselo ofiira amwazi. Popanda enzyme iyi, maselo ofiira amafa mosavuta, zomwe zimapangitsa kuti maselowa akhale ochepa (hemolytic anemia).

Kuperewera kwa Pyruvate kinase (PKD) kumatsitsidwa ngati chizolowezi chodziyimira palokha. Izi zikutanthauza kuti mwana ayenera kulandira jini losagwira ntchito kuchokera kwa kholo lililonse kuti akhale ndi vutoli.

Pali mitundu ingapo yamavuto okhudzana ndi ma enzyme ofiira ofiira omwe angayambitse kuchepa kwa magazi m'thupi. PKD ndiye chifukwa chachiwiri chodziwika kwambiri, pambuyo poti kuchepa kwa glucose-6-phosphate dehydrogenase (G6PD).

PKD imapezeka mwa anthu amitundu yonse. Koma, anthu ena, monga Amish, amatha kukhala ndi vutoli.

Zizindikiro za PKD ndi izi:

• Kuchepa kwa maselo ofiira ofiira (kuchepa magazi)
• Kutupa kwa ndulu (splenomegaly)
• Mtundu wachikaso wa khungu, mamina am'mimbamo, kapena gawo loyera la maso (jaundice)
• Matenda a Neurologic, otchedwa kernicterus, omwe amakhudza ubongo
• Kutopa, ulesi
• Khungu loyera (pallor)
• Kwa makanda, osayamba kunenepa ndikukula monga momwe amayembekezera (kulephera kukula bwino)
• Miyala yamiyala, makamaka achinyamata ndi achikulire

Wothandizira zaumoyo adzayesa thupi ndikufunsa ndikuyang'ana ngati ali ndi nthenda yotakasa. Ngati PKD ikuwakayikira, mayeso omwe atha kuyitanidwa ndi awa:

• Bilirubin m'magazi
• Zamgululi
• Kuyesa kwachibadwa kwa kusintha kwa mtundu wa pyruvate kinase gene
• Kuyesa magazi kwa Haptoglobin
• Chidwi cha Osmotic
• Pyruvate kinase ntchito
• Chopondapo urobilinogen

Anthu omwe ali ndi kuchepa kwa magazi m'thupi amafunika kuthiridwa magazi. Kuchotsa ndulu (splenectomy) kungathandize kuchepetsa kuwonongeka kwa maselo ofiira. Koma, izi sizithandiza nthawi zonse. Kwa akhanda omwe ali ndi vuto la jaundice lowopsa, woperekayo amalimbikitsa kuti awonjezere magazi. Njirayi imaphatikizapo kuchotsa pang'onopang'ono magazi amwanayo ndikumuika magazi atsopano a woperekayo kapena plasma.

Wina yemwe anali ndi splenectomy ayenera kulandira katemera wa pneumococcal pafupipafupi. Ayeneranso kulandira maantibayotiki mpaka zaka 5.

Zida zotsatirazi zitha kupereka zambiri pa PKD:

• National Organisation for Rare Disease Disways - www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• Buku Lofotokozera la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Zotsatira zimasiyanasiyana. Anthu ena ali ndi zizindikiro zochepa kapena alibe. Ena ali ndi zizindikiro zoopsa. Chithandizo chimatha kupangitsa zizindikilo kuchepa kwambiri.

Miyala yamiyala ndimavuto ofala. Zimapangidwa ndi bilirubin yochuluka kwambiri, yomwe imapangidwa panthawi ya kuchepa kwa magazi m'thupi. Matenda owopsa a pneumococcal ndi vuto lomwe lingachitike pambuyo pa splenectomy.

Onani omwe akukuthandizani ngati:

• Muli ndi jaundice kapena kuchepa kwa magazi m'thupi.
• Muli ndi mbiri yakubanja ya vutoli ndipo mukukonzekera kukhala ndi ana. Uphungu wamtunduwu ungakuthandizeni kudziwa momwe zingakhalire kuti mwana wanu atha kukhala ndi PKD. Muthanso kuphunzira za mayeso omwe amayang'ana zovuta zamtunduwu, monga PKD, kuti muthe kusankha ngati mungafune kuyesedwa.

Kulephera kwa PK; PKD

Brandow AM. Kuperewera kwa Pyruvate kinase. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 490.1.

Gallagher PG. Hemolytic anemias: maselo ofiira am'magazi komanso zopindika zamagetsi. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. 26 wa. Philadelphia, PA: Elsevier; 2020: chap 152.