Pyruvate Kinase Deficiency
Pyruvate kinase deficiency
Ringkasnya
Pyruvate kinase deficiency is an uncommon inherited enzyme disorder in dogs and cats that causes red blood cells to break down prematurely. This leads to chronic anemia, bone marrow scarring, and potential liver failure. Learn how to recognize the signs, how vets diagnose it using genetic testing, and what this diagnosis means for your pet's future.
TL;DR. Penyakit keturunan dengan hemolisis awal, anemia kronik dan fibrosis sumsum tulang pada anjing dan kucing.
Boleh menjejaskan anjing dan kucing.
Apakah ia?
Kecacatan enzim autosomal resesif: sel darah merah tidak menghasilkan ATP cukup melalui glikolisis dan hemolisis awal. Regenerasi pampasan, kemudian myelofibrosis/osteosklerosis dan kerosakan hati akibat besi.
"Although heritable HA is relatively uncommon, heritable defects may be common in a given breed... When present, hemolysis is more likely to be detected in young adults than in puppies or kittens."
Punca dan faktor risiko
Hanya keturunan. Pembawa sihat. Yang terjejas mempunyai dua alel mutan. Tanda sering pada dewasa muda. Berkaitan baka pada banyak baka anjing dan kucing.
Tanda
- Anemia (utama)
- Letih, pucat, kurang tahan senaman, aktiviti berkurang (biasa)
- Myelofibrosis/osteosklerosis (biasa, progresif)
- Ikterus; kegagalan hati dari hemosiderosis (kadang-kadang)
Gusi pucat: tanda utama anemia.
Diagnosis
Kiraan darah (mula regeneratif, kemudian tidak regeneratif); ujian enzim di makmal khas; DNA piawaian emas untuk yang sakit dan pembawa.
Ujian genetik ialah piawaian emas.
Rawatan
Tiada penawar. Sokongan: transfusi semasa krisis; pengurusan besi teliti; splenektomi kes demi kes; pemindahan sumsum jarang boleh dilakukan.
Prognosis
Anjing: berhati-hati hingga buruk; sering merosot pada 3–5 tahun. Kucing: lebih berubah-ubah; sesetengah hidup bertahun dengan anemia kronik di bawah pemantauan.
Pencegahan
Saringan genetik sebelum pembiakan; jangan kawan dua pembawa.
Bila hubungi doktor haiwan
Kecemasan jika rebah, susah bernafas, ikterus, air kencing gelap atau enggan makan/minum.
Sumber
- Small Animal Critical Care Medicine, 2nd Edition, p. 653
- Internal Medicine, 5th Edition, p. 1235
My highlights & notes
Tanda & simptom
Baka berisiko lebih tinggi
Cara didiagnosis
- Genetic testsStandard emas
- Physical and functional tests of the RBC
Soalan lazim
What is Pyruvate Kinase Deficiency?
Pyruvate kinase deficiency is an uncommon inherited enzyme disorder in dogs and cats that causes red blood cells to break down prematurely. This leads to chronic anemia, bone marrow scarring, and potential liver failure. Learn how to recognize the signs, how vets diagnose it using genetic testing, and what this diagnosis means for your pet's future.
What are the symptoms of Pyruvate Kinase Deficiency?
Anaemia (pale gums)、Decreased overall activity、Lethargy、Myelofibrosis、Osteosclerosis、Tiring easily during activity、Pallor、Hemosiderosis-associated hepatic failure
How is Pyruvate Kinase Deficiency diagnosed?
Genetic tests、Physical and functional tests of the RBC
Sumber
- Small Animal Critical Care Medicine, 2nd Edition (VetBooks.ir) · p. 653
- Small Animal Critical Care Medicine, 2nd Edition (VetBooks.ir) · p. 653
- Internal Medicine 5th · p. 1235
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