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Haemolytic anaemia and exercise intolerance due to phosphofructokinase deficiency in related springer spaniels
Author(s) -
Skibild E.,
Dahlgaard K.,
Rajpurohit Y.,
Smith B. F.,
Giger U.
Publication year - 2001
Publication title -
journal of small animal practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.7
H-Index - 67
eISSN - 1748-5827
pISSN - 0022-4510
DOI - 10.1111/j.1748-5827.2001.tb02043.x
Subject(s) - exercise intolerance , medicine , phosphofructokinase , myopathy , myoglobinuria , pediatrics , glycolysis , heart failure , rhabdomyolysis , metabolism
Phosphofructokinase (PFK) deficiency is an autosomal recessive inherited disorder in dogs causing haemolytic crises and exertional myopathy. The clinical signs may be confused with those of recurrent immune‐mediated haemolytic anaemia. The deficiency has been commonly observed in field trial (working) English springer spaniels (ESSPs), but also in the conformation line of ESSPs in the USA over the past two decades. This report documents the first family of ESSPs found with PFK deficiency in Europe. Two related adult ESSPs in Denmark had intermittent signs of pigmenturia after exercise (hunting) and had evidence of a regenerative haemolytic anaemia. Based upon DNA sequencing data, both dogs had the previously described nonsense point mutation in the muscle‐type PFK gene (A2228G >A). Study of 17 related family members using a simple and accurate PFK‐DNA test revealed one additional PFK‐deflcient dog (with minor exercise intolerance), nine carriers and seven normal (or ‘clear’) ESSPs. Recently, the authors have also identified PFK carriers and affected ESSPs in the UK. Screening for PFK deficiency is recommended for ESSPs with suspicious clinical signs and before using any for field trials or breeding in order to prevent the further spread of this hereditary disorder.