Rashin ƙarancin kinase

Rashin ƙarancin kinase shine rashin gado na enzyme pyruvate kinase, wanda jan ƙwayoyin jini ke amfani dashi. Ba tare da wannan enzyme ba, jajayen ƙwayoyin jini suna saurin lalacewa, wanda ke haifar da ƙananan matakin waɗannan ƙwayoyin (anadarin hemolytic anemia).

Rashin ƙarancin kinase (PKD) an ba da shi azaman yanayin haɓakar autosomal. Wannan yana nufin cewa yaro dole ne ya karɓi kwayar halittar da ba ta aiki daga kowane iyaye don ci gaba da cutar.

Akwai nau'ikan daban-daban na lahani masu nasaba da enzyme na jan jinin da zai iya haifar da anemia hemolytic.PKD shine sanadi na biyu mafi yawan mutane, bayan rashi glucose-6-phosphate dehydrogenase (G6PD).

Ana samun PKD a cikin mutane daga kowane ƙabila. Amma, wasu alumma, kamar su Amish, suna iya haɓaka yanayin.

Kwayar cutar PKD sun hada da:

• Countananan adadin ƙwayoyin jini ja (anemia)
• Kumburi daga mahaifa (splenomegaly)
• Launi mai launi na launin rawaya, membran mucous, ko farin ɓangaren idanu (jaundice)
• Yanayin jijiyoyin jiki, da ake kira kernicterus, wanda ke shafar ƙwaƙwalwa
• Gajiya, kasala
• Fata mai haske (mai launi)
• A cikin jarirai, rashin samun nauyi da girma kamar yadda ake tsammani (gazawar bunƙasa)
• Duwatsu masu daraja, yawanci a cikin samari da mazan

Mai ba da sabis na kiwon lafiya zai yi gwajin jiki kuma ya yi tambaya game da bincika alamomin kamar ƙawon sifa. Idan ana zargin PKD, gwaje-gwajen da za a iya ba da umarnin sun haɗa da:

• Bilirubin a cikin jini
• CBC
• Gwajin kwayoyin halitta don maye gurbi a cikin kwayar halittar pyruvate kinase
• Haptoglobin gwajin jini
• Marfafawar Osmotic
• Ayyukan kinase
• Matsayin urobilinogen

Mutanen da ke fama da matsanancin ƙarancin jini na iya buƙatar ƙarin jini. Cire saifa (splenectomy) na iya taimakawa rage lalata jajayen ƙwayoyin jini. Amma, wannan baya taimakawa a kowane yanayi. A cikin jarirai sabbin haihuwa tare da matakin haɗari na jaundice, mai ba da sabis na iya ba da shawarar musanyawar musanya. Wannan aikin ya hada da cire jinin jinnu a hankali tare da maye gurbinsa da sabon jinin mai bayarwa ko kuma jini.

Wani wanda ke da cutar tabin hankali ya kamata ya karɓi allurar rigakafin cutar sankarau a lokacin da ya dace. Hakanan yakamata su karɓi maganin rigakafi har zuwa shekara 5.

Wadannan albarkatu na iya ba da ƙarin bayani game da PKD:

• Nationalungiyar forasa ta Rare cututtukan Cututtuka - www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• NIH / NLM Tsarin Gida na Gida - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Sakamakon ya bambanta. Wasu mutane suna da kaɗan ko babu alamun bayyanar. Wasu kuma suna da mummunan alamomi. Jiyya yawanci na iya sa alamun rashin ƙarfi.

Matattun duwatsu matsala ce ta gama gari. Ana yin su ne da yawa na bilirubin, wanda ake samarwa a yayin da ake rashin jini. Ciwon pneumococcal mai tsanani yana iya zama matsala bayan splenectomy.

Duba mai baka idan:

• Kuna da jaundice ko anemia.
• Kuna da tarihin iyali na wannan rikicewar kuma kuna shirin samun yara. Shawarwarin kwayoyin halitta na iya taimaka maka sanin yadda wataƙila ɗanka zai sami PKD. Hakanan zaka iya koya game da gwaje-gwajen da ke bincika cututtukan kwayar halitta, kamar PKD, don haka zaka iya yanke shawara idan kana son yin waɗannan gwaje-gwajen.

Rashin PK; PKD

Brandow AM. Rashin ƙarancin kinase. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi 490.1.

Gallagher PG. Hemolytic anemias: membrane din jinin jini da lahani na rayuwa. A cikin: Goldman L, Schafer AI, eds. Magungunan Goldman-Cecil. 26th ed. Philadelphia, PA: Elsevier; 2020: babi na 152.