Congenital diseases Flashcards by Helen West

List 3 things that congenital diseases can be a result of

inherited disorder
nutritional deficiency or excess in gestation
disease in gestation

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Describe pituitary dwarfism

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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What do animals with pituitary dwarfism often have

hypothyroidism - as thyroid stimulating hormone (TSH) affected

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List 4 clinical signs of pituitary dwarfism

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

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Describe the prognosis of pituitary dwarfism

Affected dogs will have a shortened lifespan

Prognosis guarded with treatment, poor without

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Describe how pituitary dwarfism can be diagnosed

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

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Describe how to treat pituitary dwarfism

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

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What is primary Congenital thyroxine deficiency

abnormality of the thyroid glands

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What is secondary Congenital thyroxine deficiency

abnormality of the pituitary

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what causes tertiary Congenital thyroxine deficiency

abnormality of the hypothalamus

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Describe how congenital hypothyroidism presents

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

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Describe how to diagnose congenital hypothyroidism

Low T4
High TSH- will be low if centralcongenital hypothyroisim

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What can congenital hypothyroidism be missclassified as

fading puppy

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Describe how to treat hypothyroidism

Levothyroxine- to supplement thyroxine

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Describe the prognosis of congenital hypothyroidism

guarded
Age of diagnosis may limit additional growth

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Define aplasia

failure to develop

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define hypoplasia

incomplete or under-development

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define atrophy

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

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what do islet cells do

produce insulin
endocrine part of pancreas

what do Acinar cells do

produce digestive enzymes
exocrine part of the pancreas

In dogs what is the most common cause of EPI

pancreatic acinar atrophy
believed to be auto-immune

what is the most common cause of EPI in cats

chronic pancreatitis

what is juvenile diabetes mellitus

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

what breed could have congenital juvenile diabetes mellitus

Keeshonds

List 3 possible aetiologies of juvenile diabetes mellitus

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

Describe the presentation of Juvenile DM

Stunted growth, other hallmarks of DM including cataracts

Describe how to diagnose juvenile DM

Fasting hyperglycaemia, glucosuria, fructosamine, glucose curves

List 2 reasons why treating juvenile DM can be challenging

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

What is a Portosystemic shunt

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

what does the portal circulation do

takes blood from the gut to the liver

What toxic metabolite is involved in hepatic encephalopathy

Ammonia - from protein in diet

Which aniamls are intra-hepatic PPS most common in

large dogs

Which aniamls are extra-hepatic PPS most common in

cats and small dogs

Describe how PSS present

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

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

Ascites

Describe how to diagnose PSS

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

Describe the surgical treatment of PSS

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

Describe the medical management of of PSS

lactulose - traps ammonia antibiosis (e.g. amoxicillin) - reduces colonic bacteria that produce ammonia protein-restricted diet - reduces ammonia production

what is Persistent right aortic arch

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

Describe how Persistent right aortic arch present

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

Describe how to diagnose Persistent right aortic arch

Radiography: Leftward deviation of trachea Barium study: Oesophageal dilation

Describe how to treat Persistent right aortic arch

surgical closure or euthanasia

what is the prognosis of Persistent right aortic arch

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

what is kidney dysplasia

kidney (s) fail to develop normally

Describe renal fusion

kidneys fuse during development function often normal

How happens in urinary aplasia/ agenesis

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

What is a possible dietary predisposition to cleft palate

hypervitaminosis A in dam can predispose puppies to a cleft palate