Bovine Top 6 Genetic Diseases Flashcards
what is the classic case presentation of bovine leukocyte adhesion deficiency?
stunted holstein calf with recurrent infections (pneumonia, peridontitis, ulcerative stomatitis, & enteritis)
when do cows with BLAD die?
death by 2 weeks to 8 months of age
how is BLAD diagnosed? what is seen on lab tests? histopathology?
genetic testing, persistent neutrophilia, over 100,000/uL & lymphocytosis, & histopathology shows neutrophils in vessels but not in tissues
what treatment is done for BLAD?
none
T/F: BLAD is an autosomal recessive disease
TRUE
what is the pathophysiology of BLAD?
neutrophils in affected cows lack glycoproteins essential for normal leukocyte adherence & emigration from vasculature
what is the classic case presentation of congenital hypotrichosis?
short, curly frosted looking pale coat, normal appearing skin, hair loss by 2 weeks of age, & lack of horns, macroglossia, dental anomalies, abnormal coat coloration, & death
how is congenital hypotrichosis diagnosed?
genetic tests available in some breeds & presence of clinical signs
what animals other than cows can get congenital hypotrichosis?
sheep & goats
T/F: there are at least 13 different types of congenital hypotrichosis in cattle in different breeds
TRUE
what kind of genetic disease is congential hypotrichosis?
autosomal recessive
T/F: hypophyseal hypoplasia may be present in cows with congenital hypotrichosis
TRUE
what cattle breeds are affected by chediak-higashi syndrome?
hereford, japenese black, & brangus
what is the classic case presentation of a cow affected by chediak-higashi syndrome?
filuted coat color/incomplete albinism, recurrent infections, & bleeding tendencies after trauma
how is chediak-higashi syndrome diagnosed in cows?
usually evident on physical exam, labwork to assess serum ionized calcium, potassium, phosphorus, magnesium, PCV, & total protein for iv fluid plan
how is chediak-higashi syndrome treated?
palliative - abx for bacterial infections & blood transfusions for hemostasis
what is seen in blood cells of cows with chediak-higashi syndrome?
abnormal giant granules in leukocytes, melanocytes, platelets, renal tubular cells, epithelial cells, & kuppfer’s cells
what kind of genetic disease is chediak-higashi syndrome?
autosomal recessive
what cattle breeds are affected by alpha mannosidosis? what is the classic case presentation?
angusm murray gray, simmental, galloway, & holstein - abortion, neonatal death, or death within 1 year, & in young calves, poor doers, ataxia, head tremors, aggression, & failure to thrive
what cattle breeds are affected by beta-mannosidosis? what is the classic case presentation?
saler cattle, nubian & nubian cross goats - ataxia & recumbency in young animals
how is mannosidosis diagnosed in cows?
PCR
how is mannosidosis treated in cows?
no treatment
what kind of genetic disease is mannosidosis in cows?
autosomal recessive - lysosomal storage disease
what cows are affected by weaver syndrome?
most common in brown swiss cattle
what is the classic case presentation of weaver syndrome in cows?
5-8 month old cow with progressive odd weaving gait, ataxia, dysmetria in pelvic limbs, progressive paraparesis, & decreased conscious proprioception & ataxia in all 4 limbs
how is weaver syndrome diagnosed?
genetic test
how is weaver syndrome treated?
no treatment - euthanize
T/F: cows with weaver syndrome will have normal spinal reflexes & cranial nerves
TRUE
what is weaver syndrome also called?
bovine progressive degenerative myeloencephalopathy
what cows are affected by citrullinemia?
occurs in holstein & holstein-friesian cows
what is the classic case presentstion of citrullinemia in cows?
healthy at birth & then acute onset of depression, aimless wandering, blindness, seizures, opisthotonus, & recumbency - affected calves die of acute neurologic disease in 1-4 days
how is citrullinemia in cows diagnosed?
pcr-restriction fragment length polymorphism
why do cows have signs from citrullinemia?
signs are due to the hyperammonemia
how is citrullinemia in cows prevented?
screen breeding sires
what is the pathophysiology of citrullinemia in cows?
single base substitution that causes deficiency in argininosuccinate synthetase leading to enzymatic disruption of the urea cycle
what kind of genetic disease is citrullinemia in cows?
autosomal recessive
