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ZUKU NAVLE PREP > Canine Top 5 Genetic Diseases > Flashcards

Canine Top 5 Genetic Diseases Flashcards

1
Q

what dog breeds are affected by von willebrand’s?

A

dobermans, german shepherds, goldens, standard poodles, pembroke welsh corgis, mini schnauzers, shetland sheepdogs, basset hounds, & scottish terriers

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2
Q

what is the classical clinical presentation of a von willebrand’s dog?

A

excessive bleeding/brusing after venipuncture or surgery, epistaxis, gingival bleeding, & hematuria

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3
Q

what is the most common type of von willebrand’s?

A

type 1

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4
Q

what are the 3 types of von willebrand’s?

A

type I - produces a truncated form of VWF with mild to moderate signs, type 2 - intermediate form with low VWF seen in GSP & GWP, type 3 - rarest & most severe where there is a total absence of VWF seen in shetland sheepdogs & scottish terriers

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5
Q

how is von willebrand’s diagnosed?

A

measuring a low VWF concentration, genetic testing, platelet numbers, APTT & PT are normal

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6
Q

how is von willebrand’s treated?

A

cryoprecipitate/fresh plasma/fresh whole blood, desmopressin to mobilize high-molecular-weight hemostatic multimers from endothelial granules

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7
Q

what is von willebrand’s? why is it important?

A

factor VII related antigen that assists in the first step of clot formation by facilitating platelet adhesion

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8
Q

what is the most common genetic inheritance of von willebrand’s?

A

autosomal dominant with incomplete penetrance - autosomal recessive is rare

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9
Q

what drug may worsen VWF disease?

A

levothyroxine

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10
Q

what dog breeds are commonly affected with ivermectin toxicity?

A

collie, border collie, longhaired whippets, GSD, & shetland sheepdogs

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11
Q

what clinical signs are seen in dogs with ivermectin toxicity?

A

mydriasis, ataxia, tremors, & coma

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12
Q

how much ivermectin results in toxicity in dogs with the genetic mutation?

A

treatment with greater than 120 mcg/kg

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13
Q

how is ivermectin toxicity diagnosed?

A

history of ivermectin administration is susceptible breeds & genetic testing

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14
Q

what other drugs are dogs with ivermectin toxicity also susceptible to having reactions? why?

A

loperamide, vincristine, doxorubicin, milbemycin - mutations of the MDR1 gene associated with the ability of drugs to cross the into the CNS

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15
Q

what is the gene that causes degenerative myelopathy?

A

SOD1 gene mutation

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16
Q

what dog breeds are usually affected by degenerative myelopathy?

A

middle aged to older GSD, pembroke welsh corgis, boxers, rhodesian ridgebacks

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17
Q

what is the classic case presentation of a dog with degenerative myelopathy?

A

slowly progressive ataxia over months with loss of pelvic limb conscious proprioception that may progress to the thoracic limbs in late disease, paraparesis, but NONPAINFUL

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18
Q

how is degenerative myelopathy diagnosed?

A

genetic testing & MRI/CSF tap to rule out other causes of paraparesis

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19
Q

how is degenerative myelopathy treated?

A

supportive care - ambulatory aids (slings, carts), & well-padded bedding

20
Q

T/F: anti-inflammatories are of no benefit for dogs with degenerative myelopathy

A

TRUE

21
Q

what does the SOD1 gene encode for?

A

superoxide dismutase

22
Q

what breeds are predisposed to DCM?

A

dobermans, boxers, great dane, labs, newfoundlands, st bernards, GSD, & irish wolfhounds

23
Q

what is the classic case presentation of a dog with DCM?

A

sycope/sudden death, tachypnea, dyspnea, weakness, & exercise intolerance

24
Q

how is DCM diagnosed?

A

thoracic rads, echo is the gold standard, ECG with PVC, v tach, & atrial fibrillation - genetic testing available in dobermans

25
Q

how is DCM treated?

A

diuretics, pimobendan, ace inhibitors

26
Q

T/F: 60% of dobermans with both autosomal mutations will develop DCM

A

TRUE

27
Q

what is the PDK4 gene mutation in dobermans related to DCM?

A

gene codes for pyruvate dehydrogenase kinase 4 a mitochondrial enzyme that is required for production of ATP, increases the likelihood of DCM by 10X

28
Q

what is the NCSU DCM2 gene mutation in dobermans related to DCM?

A

increases the likelihood of DCM by 21X

29
Q

what is the photoreceptor type of progressive retinal atrophy?

A

begins during the first year of life - seen in irish setters, collies, norwegian elkhounds, mini schnauzers, & belgian sheepdogs

30
Q

what is the photoreceptor degeneration type of progressive retinal atrophy?

A

develops at 3-5 years old seen in mini/toy poodles, cocker spaniels, labs, papillons, springer spaniels, & akitas

31
Q

what is the late onset type of progressive retinal atrophy?

A

develops around 10 years of age - seen in gordon setters, irish setters, australian cattle dogs, & tibetan terriers

32
Q

what is the first sign usually seen with progressive retinal atrophy? how does it progress?

A

night blindness that progresses to complete blindness over months to years - can end with the late development of cortical cataracts in certain breeds

33
Q

what is seen on ophthalmoscopic exam that supports the diagnosis of progressive retinal atrophy?

A

increased tapetal reflectivity, decreased pigmentation of nontapetal fundus, attenuated & decreased retinal vessels, & atrophied optic papillae

34
Q

how is progressive retinal atrophy diagnosed?

A

ophthalmoscopic exam, electroretinography, & genetic testing

35
Q

how is progressive retinal atrophy treated?

A

no treatment

36
Q

how many genetic mutations have been shown to be causal for progressive retinal atrophy?

A

14

37
Q

T/F: most mutations are autosomal recessive for progressive retinal atrophy

A

TRUE

38
Q

what is the PDE6A frame-shift mutation causing progressive retinal atrophy?

A

rode cone dysplasia seen in 8-12 week old cardigan welsh corgis

39
Q

what is the PDE6B frame-shift mutation causing progressive retinal atrophy?

A

rode cone dysplasias, sloughi dogs & irish setters 2-3 years old

40
Q

what is the PRCD mutation causing progressive retinal atrophy?

A

progressive rod-cone degeneration seen in multiple breeds

41
Q

what is the CNGB1 mutation causing progressive retinal atrophy?

A

progressive retinal atrophy seen in papillons

42
Q

what is the TTC8 mutation causing progressive retinal atrophy?

A

seen in goldens & labs

43
Q

what is the C17H2orf71 mutation causing progressive retinal atrophy?

A

rod-cone degeneration seen in gordon setters, irish setters, & tibetan terriers at 10 years old

44
Q

what is the RPGR mutation causing progressive retinal atrophy?

A

x-linked progressive retinal atrophy seen in huskies & samoyed 3-5 years old

45
Q

what is the RHO mutation causing progressive retinal atrophy?

A

autosomal dominant progressive retinal atrophy seen in 4 month old english & bull mastiffs

ZUKU NAVLE PREP (178 decks)

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