[Hemophilia A in a male cat with intermittent lameness].

Autor:	Beetz S; Klein- und Heimtierklinik, Fachbereich Veterinärmedizin, Freie Universität Berlin., Weingart C; Klein- und Heimtierklinik, Fachbereich Veterinärmedizin, Freie Universität Berlin., Renner A; Klein- und Heimtierklinik, Fachbereich Veterinärmedizin, Freie Universität Berlin., Kehl A; Laboklin GmbH & Co. KG, Bad Kissingen., Menzel D; Klinik für Kleintiere, Stiftung Tierärztliche Hochschule Hannover., Mischke R; Klinik für Kleintiere, Stiftung Tierärztliche Hochschule Hannover., Müller E; Laboklin GmbH & Co. KG, Bad Kissingen., Kohn B; Klein- und Heimtierklinik, Fachbereich Veterinärmedizin, Freie Universität Berlin.
Jazyk:	němčina
Zdroj:	Tierarztliche Praxis. Ausgabe K, Kleintiere/Heimtiere [Tierarztl Prax Ausg K Kleintiere Heimtiere] 2024 Oct; Vol. 52 (5), pp. 314-323. Date of Electronic Publication: 2024 Oct 24.
DOI:	10.1055/a-2404-1427
Abstrakt:	A 3-month-old domestic shorthair tomcat born on a farm was unsuccessfully treated with meloxicam for alternating lameness, fever and inappetence. On presentation, there was lameness (grade 2/4) of the right forelimb with mild swelling of the soft tissue. Rectal temperature was 39.9°C, a moderate anemia developed. Inadequate bleeding occurred during arthrocentesis performed on suspicion of polyarthritis. Coagulation tests revealed an isolated prolonged activated partial thromboplastin time (aPTT). Activity of factor VIII was 5% (reference range: 70-125%), of factor IX 55% (80-130%), and of factor XII 73% (50-140%).In a genetic study, exons and adjacent intron sequences of the feline F8-gene were sequenced and compared with the reference (ENSFCAT000078256.1). While no non-synonymous variants were found in coding sequences, intron 19 revealed the variant c.6073+2 T>C. This variant likely results in splice site alteration, atypical splicing, and thus an altered mRNA for FVIII.The patient was treated symptomatically (metamizole, buprenorphine, tranexamic acid) and clinical signs improved. Chemical castration with a GnRH implant was performed at 8 and 18 months of age, whereby minor bleeding at the implantation site occurred after the second implantation. After 3.5 years, the cat lives nearly without clinical signs of bleeding.aPTT prolongation with normal PT indicated a factor deficiency. Determination of factor activity led to the diagnosis of hemophilia A. Genetic testing detected a splice variant in the F8-gene. Competing Interests: Die Autoren versichern, dass keine persönlichen Interessen, sei es beruflicher oder anderer Art, an einem Produkt oder Unternehmen bestehen, die Einfluss auf die im vorliegenden Fallbericht behandelten Inhalte ausüben könnten. (Thieme. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu