Pyruvate Kinase Deficiency
Pyruvate kinase deficiency
Singkatnya
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 genetik dengan hemolisis dini, anemia kronis, dan fibrosis sumsum tulang pada anjing dan kucing.
Dapat mengenai anjing dan kucing.
Apa itu?
Cacat enzim autosomal resesif: eritrosit tidak menghasilkan ATP cukup lewat glikolisis dan hemolisis dini. Regenerasi kompensasi, lalu mielofibrosis/osteosklerosis dan kerusakan hati karena zat 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."
Penyebab dan faktor risiko
Hanya herediter. Pembawa sehat. Yang sakit punya dua alel mutan. Tanda sering pada dewasa muda. Terkait ras pada banyak ras anjing dan kucing.
Tanda
- Anemia (utama)
- Lesu, pucat, intoleransi olahraga, aktivitas menurun (umum)
- Mielofibrosis/osteosklerosis (umum, progresif)
- Ikterus; gagal hati akibat hemosiderosis (kadang)
Gusi pucat: tanda kunci anemia.
Diagnosis
Darah lengkap (dulu regeneratif, kemudian non-regeneratif); uji enzim di lab khusus; DNA standar emas untuk sakit dan pembawa.
Tes genetik adalah standar emas.
Pengobatan
Tidak ada penyembuhan. Suportif: transfusi saat krisis; kelola zat besi hati-hati; splenektomi kasus per kasus; transplantasi sumsum jarang feasible.
Prognosis
Anjing: waspada hingga buruk; sering memburuk di usia 3–5 tahun. Kucing: lebih bervariasi; sebagian hidup bertahun-tahun dengan anemia kronis di bawah pantauan.
Pencegahan
Skrining genetik sebelum breeding; jangan kawinkan dua pembawa.
Kapan hubungi dokter hewan
Darurat jika kolaps, napas sulit, ikterus, urine gelap, atau menolak makan/minum.
Sumber
- Small Animal Critical Care Medicine, 2nd Edition, p. 653
- Internal Medicine, 5th Edition, p. 1235
My highlights & notes
Tanda & gejala
Ras berisiko lebih tinggi
Cara didiagnosis
- Genetic testsStandar emas
- Physical and functional tests of the RBC
Pertanyaan umum
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
Artikel ini edukasi umum, bukan pengganti saran dokter hewan. Jika hewan sakit, konsultasikan dokter hewan.
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