Hämophilie B (Faktor-IX-Mangel) mit begleitender Faktor-XII-Erniedrigung bei einem Mischlingskater
Standard
Hämophilie B (Faktor-IX-Mangel) mit begleitender Faktor-XII-Erniedrigung bei einem Mischlingskater. / Lutze, Gerd; Kutschmann, Klaus; Fürst, Katrin; Schneppenheim, Reinhard.
In: BERL MUNCH TIERARZTL, Vol. 118, No. 5-6, 28.05.2005, p. 255-60.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Hämophilie B (Faktor-IX-Mangel) mit begleitender Faktor-XII-Erniedrigung bei einem Mischlingskater
AU - Lutze, Gerd
AU - Kutschmann, Klaus
AU - Fürst, Katrin
AU - Schneppenheim, Reinhard
PY - 2005/5/28
Y1 - 2005/5/28
N2 - A male cat suffered from a severe haemorrhagic disorder manifesting as deep, partly infected cutaneous haematomas, enhanced and prolonged bleeding after injuries and subsequent lameness at several occasions. Bleeding resulted in severe anaemia with haematocrit falling to as low as 0.10 L/L. Haemophilia B was diagnosed based on factor IX deficiency with a functional residual activity of 5% and factor IX antigen of 8%, respectively. Additionally, factor XII activity was reduced to 32% of normal. The mutation 31217G==>A in exon 8 of the factor IX gene, predicting the amino acid exchange G366R was identified as the cause of moderate factor IX deficiency. This is the first mutation identified in cats with haemophilia B. Treatment was limited to local therapy and palliation, insufficient to prevent lethal outcome due to severe anaemia.
AB - A male cat suffered from a severe haemorrhagic disorder manifesting as deep, partly infected cutaneous haematomas, enhanced and prolonged bleeding after injuries and subsequent lameness at several occasions. Bleeding resulted in severe anaemia with haematocrit falling to as low as 0.10 L/L. Haemophilia B was diagnosed based on factor IX deficiency with a functional residual activity of 5% and factor IX antigen of 8%, respectively. Additionally, factor XII activity was reduced to 32% of normal. The mutation 31217G==>A in exon 8 of the factor IX gene, predicting the amino acid exchange G366R was identified as the cause of moderate factor IX deficiency. This is the first mutation identified in cats with haemophilia B. Treatment was limited to local therapy and palliation, insufficient to prevent lethal outcome due to severe anaemia.
KW - Animals
KW - Blood Coagulation
KW - Cat Diseases
KW - Cats
KW - Factor IX
KW - Factor XII Deficiency
KW - Fatal Outcome
KW - Hemophilia B
KW - Male
KW - Mutation
M3 - SCORING: Zeitschriftenaufsatz
C2 - 15918491
VL - 118
SP - 255
EP - 260
JO - BERL MUNCH TIERARZTL
JF - BERL MUNCH TIERARZTL
SN - 0005-9366
IS - 5-6
ER -
