Pyruvate kinase erughi

Enweghị pyruvate kinase bụ enweghi eketa nke enzyme pyruvate kinase, nke mkpụrụ ndụ ọbara uhie na-eji. Enweghi enzyme a, mkpụrụ ndụ ọbara uhie na-agbaji ngwa ngwa, na-ebute ogo nke mkpụrụ ndụ ndị a (hemolytic anemia).

Pyruvate kinase erughi (PKD) a gafere dị ka ihe autosomal recessive àgwà. Nke a pụtara na nwatakịrị ga-enwetara mkpụrụ ndụ ihe nketa nke na-adịghị arụ ọrụ site n'aka nne na nna ọ bụla iji mepụta nsogbu ahụ.

Enwere ọtụtụ nsogbu dị iche iche metụtara enzyme nke sel ọbara uhie nke nwere ike ibute anaemia hemolytic. PKD bụ ihe nke abụọ na - ebutekarị, mgbe ụkọ glucose-6-phosphate dehydrogenase (G6PD).

A na-ahụ PKD na agbụrụ niile. Mana, ụfọdụ ndị mmadụ, dịka ndị Amish, nwere ike ibute ọnọdụ ahụ.

Mgbaàmà nke PKD gụnyere:

• Ọnụ ọgụgụ dị ala nke mkpụrụ ndụ ọbara uhie uhie (anaemia)
• Ọzịza nke splin (splenomegaly)
• Agba agba odo nke anụ ahụ, akpụkpọ anụ mucous, ma ọ bụ akụkụ anya ọcha (jaundice)
• Ọnọdụ Neurologic, nke a na-akpọ kernicterus, nke na-emetụta ụbụrụ
• Ike ọgwụgwụ, ike ọgwụgwụ
• Icha dị ọcha (pallor)
• N'ime ụmụ ọhụrụ, na-ebughi ibu ma na-eto eto dịka a tụrụ anya ya (ọdịda anaghị eto eto)
• Nkume gall, na-abụkarị n'afọ iri na ụma na okenye

Onye nlekọta ahụike ga-eme nyocha anụ ahụ ma jụọ maka ya ma lelee maka mgbaàmà dịka mgbatị buru ibu. Ọ bụrụ na a na-enyo PKD enyo, ule a ga - enye iwu gụnyere:

• Bilirubin n’ime ọbara
• CBC
• Nnyocha mkpụrụ ndụ maka mmụba na mkpụrụ ndụ pyruvate kinase
• Nnwale ọbara Haptoglobin
• Ọkpụkpụ osmotic
• Ọrụ Pyruvate kinase
• Ifuanụ urobilinogen

Ndị nwere nnukwu ọbara n’ahụ nwere ike ịchọ mmịnye ọbara. Iwepụ splin (splenectomy) nwere ike inye aka belata mbibi nke mkpụrụ ndụ ọbara uhie. Mana, nke a anaghị enyere aka n'ọnọdụ niile. Mụ amụrụ ọhụrụ nwere ụdị jaundice dị egwu, onye na-eweta ya nwere ike ịkwado mmịnye mgbanwe. Usoro a gụnyere iji nwayọ wepụ ọbara nwatakịrị ahụ ma were ọbara inye onyinye ọhụrụ ma ọ bụ plasma dochie ya.

Onye nwere splenectomy kwesịrị ịnata ọgwụ mgbochi ọrịa pneumococcal n'oge etiti oge a tụrụ aro ya. Ha kwesịkwara ịnara ọgwụ nje mgbochi ruo afọ 5.

Ihe ndi a nwere ike inye ndi ozo banyere PKD:

• Organizationtù Na-ahụ Maka Ọrịa Na-ahụ Maka Ọrịa - www.rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
• NIH / NLM Nkọwapụta etlọ Genetik - ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency

Nsonaazụ dị iche. Fọdụ ndị nwere obere ma ọ bụ enweghị mgbaàmà. Ndị ọzọ nwere ajọ mgbaàmà. Ọgwụgwọ na-emekarị ka mgbaàmà ghara isi ike.

Nkume gall bụ nsogbu nkịtị. A na-eji bilirubin arụ ọrụ nke ukwuu, nke a na - emepụta n'oge anaemia hemolytic. Ọrịa pneumococcal siri ike bụ nsogbu nwere ike ime mgbe splenectomy gasịrị.

Hụ onye na-ahụ maka ọrụ gị ma ọ bụrụ na:

• Have nwere jaundice ma ọ bụ anaemia.
• Have nwere akụkọ ihe mere eme nke ezinụlọ banyere ọrịa a ma na-eme atụmatụ ịmụ ụmụ. Ndụmọdụ mkpụrụ ndụ ihe nketa nwere ike inyere gị aka ịma ka ọ ga - esi bụrụ na nwa gị ga - enwe PKD. I nwekwara ike ịmụ banyere ule na-enyocha ọrịa mkpụrụ ndụ ihe nketa, dị ka PKD, ka ị nwee ike ikpebi ma ị ga-achọ ịnwale ule a.

PK erughi; PKD

Brandow AM. Pyruvate kinase erughi. Na: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Akwụkwọ ọgụgụ nke Ọrịa edimụaka. 21nke. Philadelphia, PA: Elsevier; 2020: isi 490.1.

Gallagher PG. Hemolytic anemias: akpụkpọ ahụ ọbara uhie na ntụpọ metabolic. Na: Goldman L, Schafer AI, eds. Ọgwụ Goldman-Cecil. Nke 26th. Philadelphia, PA: Elsevier; 2020: isi 152.