Ka nele o Pyruvate kinase

ʻO ka hemahema ʻo Pyruvate kinase kahi hemahema hoʻoilina o ka enzyme pyruvate kinase, i hoʻohana ʻia e nā ʻulaʻula koko. Me ka ʻole o kēia ʻenemema, e wāwahi maʻalahi nā hunaola ʻulaʻula, a laila e hopena i kahi pae haʻahaʻa o kēia mau hunaola (hemolytic anemia).

ʻO ka hemahema Pyruvate kinase (PKD) i hoʻoiho ʻia ma ke ʻano he autessomal recessive traitive. ʻO kēia ke kumu e loaʻa i kahi keiki kahi ʻohana hana ʻole mai kēlā me kēia makua e hoʻomohala i ka maʻi.

Nui a hewahewa nā ʻano ʻē aʻe e pili ana i ka enzyme o ke keʻa ʻulaʻula i hiki ke hana i ka hemolytic anemia. ʻO PKD ka lua o nā kumu maʻamau, ma hope o ka loaʻa ʻole o glucose-6-phosphate dehydrogenase (G6PD).

Loaʻa ʻo PKD i nā poʻe o nā lāhui āpau. Akā, ʻo kekahi mau lehulehu, e like me ka Amish, ʻoi aku paha ka hoʻomohala ʻana i kēia ʻano.

Nā ʻōuli o PKD me:

• Ka helu haʻahaʻa o nā hunaola ʻulaʻula olakino (anemia)
• ʻO ka pehu ʻana o ka spleen (splenomegaly)
• ʻO kaʻula melemele o kaʻili, nā membrane mucous, a keʻokeʻo paha o nā maka (jaundice)
• ʻO ke kūlana Neurologic, i kapa ʻia ʻo kernicterus, e hoʻopili i ka lolo
• Ka luhi, lethargy
• ʻO kaʻili pale (pallor)
• I nā pēpē, ʻaʻole loaʻa ke kaupaona a me ka ulu ʻana e like me ka mea i manaʻo ʻia (ʻaʻole e holomua)
• ʻO nā Gallstones, maʻamau i nā ʻōpio a ʻoi aku

E hana ka mea mālama ola i kahi hoʻokolohua kino a nīnau e pili ana a nānā i nā ʻōuli e like me ka spleen hoʻonui ʻia. Inā kuhi ʻia ʻo PKD, hoʻāʻo ʻia nā hoʻokolohua e kauoha ʻia.

• Bilirubin i loko o ke koko
• CBC
• ʻO ka hoʻāʻo genetic no ka hoʻololi ʻana i ka ʻohana pyruvate kinase
• Hōʻike koko Haptoglobin
• Palupalu Osmotic
• ʻO ka hana kinase pyruvate
• Urobilinogen noho

ʻO ka poʻe me ka anemia koʻikoʻi e pono i nā transfusions o ke koko. Ke kōkua nei i ka hemo ʻana o ka spleen (splenectomy) e hōʻemi i ka luku ʻia o nā hunaola ʻulaʻula. Akā, ʻaʻole kōkua kēia i nā hihia āpau. I nā keiki hānau hou me kahi pae weliweli o ka jaundice, hiki i ka mea hāʻawi ke paipai i kahi transfusion exchange. Pili kēia hana i ka lawe lohi ʻana i ke koko o ke pēpē a hoʻololi iā ia me ke koko hāʻawi hou a i ʻole ka plasma.

Pono e loaʻa i ka mea i loaʻa i ka splenectomy i ka lāʻau vaccine pneumococcal i nā wā i ʻōlelo ʻia. Pono lākou e loaʻa i nā antibiotic preventive a hiki i ka makahiki 5.

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻike hou aku ma PKD:

• National Organization for Rare Disease Disorder - www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• NIH / NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Hoʻololi ka hopena. Loaʻa i kekahi poʻe he mau hōʻailona a ʻaʻohe paha. Loaʻa nā ʻōuli koʻikoʻi kekahi. Hiki i ka mālama ʻana ke hana maʻamau i nā ʻōuli ma muli o ke koʻikoʻi.

ʻO Gallstones kahi pilikia maʻamau. Hana ʻia lākou i nā bilirubin nui loa, i hana ʻia i ka wā o ka hemolytic anemia. ʻO ka maʻi pneumococcal nui loa kahi pilikia ma hope o ka splenectomy.

E ʻike i kāu mea hāʻawi inā:

• Loaʻa iā ʻoe ka jaundice a anemia paha.
• He moʻolelo ʻohana kāu no kēia maʻi a ke hoʻolālā nei i nā keiki. Hiki i ke ʻōlelo aʻoaʻo genetic ke kōkua iā ʻoe e ʻike i ka ʻano PKD paha o kāu keiki. Hiki iā ʻoe ke aʻo e pili ana i nā hoʻokolohua e nānā ai i nā maʻi genetics, e like me PKD, i hiki ai iā ʻoe ke hoʻoholo inā makemake ʻoe e loaʻa kēia mau hoʻāʻo.

Hemahema PK; PKD

Brandow AM. Ka nele o Pyruvate kinase. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 490.1.

ʻO Gallagher PG. Hemolytic anemias: ʻulaʻula koko membrane a me nā kīnā metabolik. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 152.