Bovine Top 6 Genetic Diseases

Question 1

what is the classic case presentation of bovine leukocyte adhesion deficiency?

Answer 1

stunted holstein calf with recurrent infections (pneumonia, peridontitis, ulcerative stomatitis, & enteritis)

Question 2

when do cows with BLAD die?

Answer 2

death by 2 weeks to 8 months of age

Question 3

how is BLAD diagnosed? what is seen on lab tests? histopathology?

Answer 3

genetic testing, persistent neutrophilia, over 100,000/uL & lymphocytosis, & histopathology shows neutrophils in vessels but not in tissues

Question 4

what treatment is done for BLAD?

Answer 4

none

Question 5

T/F: BLAD is an autosomal recessive disease

Answer 5

TRUE

Question 6

what is the pathophysiology of BLAD?

Answer 6

neutrophils in affected cows lack glycoproteins essential for normal leukocyte adherence & emigration from vasculature

Question 7

what is the classic case presentation of congenital hypotrichosis?

Answer 7

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

Question 8

how is congenital hypotrichosis diagnosed?

Answer 8

genetic tests available in some breeds & presence of clinical signs

Question 9

what animals other than cows can get congenital hypotrichosis?

Answer 9

sheep & goats

Question 10

T/F: there are at least 13 different types of congenital hypotrichosis in cattle in different breeds

Answer 10

TRUE

Question 11

what kind of genetic disease is congential hypotrichosis?

Answer 11

autosomal recessive

Question 12

T/F: hypophyseal hypoplasia may be present in cows with congenital hypotrichosis

Answer 12

TRUE

Question 13

what cattle breeds are affected by chediak-higashi syndrome?

Answer 13

hereford, japenese black, & brangus

Question 14

what is the classic case presentation of a cow affected by chediak-higashi syndrome?

Answer 14

filuted coat color/incomplete albinism, recurrent infections, & bleeding tendencies after trauma

Question 15

how is chediak-higashi syndrome diagnosed in cows?

Answer 15

usually evident on physical exam, labwork to assess serum ionized calcium, potassium, phosphorus, magnesium, PCV, & total protein for iv fluid plan

Question 16

how is chediak-higashi syndrome treated?

Answer 16

palliative - abx for bacterial infections & blood transfusions for hemostasis

Question 17

what is seen in blood cells of cows with chediak-higashi syndrome?

Answer 17

abnormal giant granules in leukocytes, melanocytes, platelets, renal tubular cells, epithelial cells, & kuppfer’s cells

Question 18

what kind of genetic disease is chediak-higashi syndrome?

Answer 18

autosomal recessive

Question 19

what cattle breeds are affected by alpha mannosidosis? what is the classic case presentation?

Answer 19

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

Question 20

what cattle breeds are affected by beta-mannosidosis? what is the classic case presentation?

Answer 20

saler cattle, nubian & nubian cross goats - ataxia & recumbency in young animals

Question 21

how is mannosidosis diagnosed in cows?

Answer 21

PCR

Question 22

how is mannosidosis treated in cows?

Answer 22

no treatment

Question 23

what kind of genetic disease is mannosidosis in cows?

Answer 23

autosomal recessive - lysosomal storage disease

Question 24

what cows are affected by weaver syndrome?

Answer 24

most common in brown swiss cattle

Question 25

what is the classic case presentation of weaver syndrome in cows?

Answer 25

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

Question 26

how is weaver syndrome diagnosed?

Answer 26

genetic test

Question 27

how is weaver syndrome treated?

Answer 27

no treatment - euthanize

Question 28

T/F: cows with weaver syndrome will have normal spinal reflexes & cranial nerves

Answer 28

TRUE

Question 29

what is weaver syndrome also called?

Answer 29

bovine progressive degenerative myeloencephalopathy

Question 30

what cows are affected by citrullinemia?

Answer 30

occurs in holstein & holstein-friesian cows

Question 31

what is the classic case presentstion of citrullinemia in cows?

Answer 31

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

Question 32

how is citrullinemia in cows diagnosed?

Answer 32

pcr-restriction fragment length polymorphism

Question 33

why do cows have signs from citrullinemia?

Answer 33

signs are due to the hyperammonemia

Question 34

how is citrullinemia in cows prevented?

Answer 34

screen breeding sires

Question 35

what is the pathophysiology of citrullinemia in cows?

Answer 35

single base substitution that causes deficiency in argininosuccinate synthetase leading to enzymatic disruption of the urea cycle

Question 36

what kind of genetic disease is citrullinemia in cows?

Answer 36

autosomal recessive