Congenital diseases Flashcards

1
Q

List 3 things that congenital diseases can be a result of

A

inherited disorder
nutritional deficiency or excess in gestation
disease in gestation

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2
Q

Describe pituitary dwarfism

A

congenital growth hormone (GH) deficiency - abnormal development of the pituitary gland
inherited disease
mostly seen in dogs- very rare in cats

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3
Q

What do animals with pituitary dwarfism often have

A

hypothyroidism - as thyroid stimulating hormone (TSH) affected

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4
Q

List 4 clinical signs of pituitary dwarfism

A

stunted growth
puppy coat
delayed dentition
abnormal reproductive development ( cryptorchidism, anoestrus)

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4
Q

Describe the prognosis of pituitary dwarfism

A

Affected dogs will have a shortened lifespan

Prognosis guarded with treatment, poor without

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4
Q

Describe how pituitary dwarfism can be diagnosed

A

Elevated creatinine
IGF-1 (indirect)
GH- stim test- definitive
Genetic testing
Advanced imaging

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4
Q

Describe how to treat pituitary dwarfism

A

porcine GH- to supplement GH
thyroxine supplementation
Medroxyprogesterone- ineffective in cats

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4
Q

What is primary Congenital thyroxine deficiency

A

abnormality of the thyroid glands

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4
Q

What is secondary Congenital thyroxine deficiency

A

abnormality of the pituitary

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5
Q

what causes tertiary Congenital thyroxine deficiency

A

abnormality of the hypothalamus

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6
Q

Describe how congenital hypothyroidism presents

A

Disproportionate dwarfism:
- Wide skull
- Macroglossia (tongue too large for mouth)
- Delayed dentition

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7
Q

Describe how to diagnose congenital hypothyroidism

A

Low T4
High TSH- will be low if centralcongenital hypothyroisim

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7
Q

What can congenital hypothyroidism be missclassified as

A

fading puppy

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7
Q

Describe how to treat hypothyroidism

A

Levothyroxine- to supplement thyroxine

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8
Q

Describe the prognosis of congenital hypothyroidism

A

guarded
Age of diagnosis may limit additional growth

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9
Q

Define aplasia

A

failure to develop

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10
Q

define hypoplasia

A

incomplete or under-development

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11
Q

define atrophy

A

something may have developed, but now it’s deteriorating
E.g. auto-immune disease

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12
Q

what do islet cells do

A

produce insulin
endocrine part of pancreas

13
Q

what do Acinar cells do

A

produce digestive enzymes
exocrine part of the pancreas

14
Q

In dogs what is the most common cause of EPI

A

pancreatic acinar atrophy
believed to be auto-immune

15
Q

what is the most common cause of EPI in cats

A

chronic pancreatitis

16
Q

what is juvenile diabetes mellitus

A

Diabetes mellitus (DM) diagnosed <6mo of age
Uncommon

17
Q

what breed could have congenital juvenile diabetes mellitus

A

Keeshonds

18
Q

List 3 possible aetiologies of juvenile diabetes mellitus

A

Congenital islet cell atrophy, aplasia or hypoplasia
Not usually auto-immune
Insulin receptor defects

19
Q

Describe the presentation of Juvenile DM

A

Stunted growth, other hallmarks of DM including cataracts

20
Q

Describe how to diagnose juvenile DM

A

Fasting hyperglycaemia, glucosuria, fructosamine, glucose curves

21
Q

List 2 reasons why treating juvenile DM can be challenging

A

Growth hormone antagonisitic to insulin
Also treated with insulin based on insulin per kg bodyweight – can be hard to keep track of

22
Q

What is a Portosystemic shunt

A

Structural defect: Foetal vascular structure fails to close (or forms during development)

23
Q

what does the portal circulation do

A

takes blood from the gut to the liver

24
Q

What toxic metabolite is involved in hepatic encephalopathy

A

Ammonia - from protein in diet

25
Q

Which aniamls are intra-hepatic PPS most common in

A

large dogs

26
Q

Which aniamls are extra-hepatic PPS most common in

A

cats and small dogs

27
Q

Describe how PSS present

A

neuro signs- hepatic encephalopathy- head pressing, ataxia, seizure (may occur soon after a meal)
GI signs- hypersalivation
Urinary signs- dysuria, pollakiuria
stunted growth

28
Q

what can animals with acquired PSS get but not in congenital PSS

A

Ascites

29
Q

Describe how to diagnose PSS

A

Imaging - diagnostic - microhepatica, renomegaly
biochem- increased bile acid - most important sign

30
Q

Describe the surgical treatment of PSS

A

close the structure
either done by:
- ligation- abrupt and risk of complications
- constriction- gradual

31
Q

Describe the medical management of of PSS

A

lactulose - traps ammonia

antibiosis (e.g. amoxicillin) - reduces colonic bacteria that produce ammonia

protein-restricted diet - reduces ammonia production

32
Q

what is Persistent right aortic arch

A

foetal vasculature fails to close
can lead to compression of the oesophagus

33
Q

Describe how Persistent right aortic arch present

A

regurgitation - occurs soon after weaning
This can lead to aspirational pneumonia

34
Q

Describe how to diagnose Persistent right aortic arch

A

Radiography: Leftward deviation of trachea
Barium study: Oesophageal dilation

35
Q

Describe how to treat Persistent right aortic arch

A

surgical closure or euthanasia

36
Q

what is the prognosis of Persistent right aortic arch

A

Prognosis can be good if carried out before development of chronic oesophageal dilation or other complications (aspiration pneumonia)

37
Q

what is kidney dysplasia

A

kidney (s) fail to develop normally

38
Q

Describe renal fusion

A

kidneys fuse during development
function often normal

39
Q

How happens in urinary aplasia/ agenesis

A

kidney and ureter fail to develop
Unilateral cases may have same-sided reproductive abnormality
Bilateral = death
Other kidney may function normally (incidental finding!)

40
Q

What is a possible dietary predisposition to cleft palate

A

hypervitaminosis A in dam can predispose puppies to a cleft palate