Hereditary Diseases Flashcards
In small animals, in which species/breeds has leukocyte adhesion deficiency been documented? What physical exam findings, clinical signs, and blood film microscopy findings might be present in these patients? What therapies are available and what is prognosis like with this disease?
Irish setter, GSD, mixed breeds “Pus poor” infections Extreme neutrophila Tx symtopmatically, Abx Poor prognosis
Be familiar with the breeds in which defective neutrophil function has been documented. What clinical signs might you see with this disease? What can you tell the owner about therapy and prognosis?
Doberman pinscher, weimaraner
Decreased bactericidal effect, reduced free radical production
Poor prognosis
- Be familiar with the breed in which cyclic hematopoiesis has been documented. What clinical signs might you see with this disease? What might you document on the blood work? What can you tell the owner about therapy and prognosis?
Grey Collies, small pups, nose color “never comes in”
Neutrophilia between episodes
Abnormal marrow microenvironment
Dx: genetic testing
Treat with gCSF? cost prohibitive
Poor prognosis
- In small animals, in which species has Pelger-Huet been documented? What breed has a higher incidence of this disease than others? How would you make a diagnosis of this disease? What physical exam findings, clinical signs, and blood film microscopy findings might be present in these patients? What are important rule outs for a diagnosis of Pelger-Huet?
Cats and dogs, Australian shepherds
Dx by light microscopy, Neutrophils do not segment properly
No associated clinical signs
R/O pseudo PH, left shift
Great prognosis, no tx indicated
In small animals, in which species/breed has CHS been documented? How would you make a diagnosis of this disease? What physical exam findings, clinical signs, and blood film microscopy findings might be present in these patients?
Cats, “smoke-blue” Persians with partial albinism
Inclusions in neutrophils, platelet defects
More prone to infections, bleeding
Tx: antibiotics
When you find weird inclusions inside of leukocytes, what are some broad categories you should consider for how these got there? Be able to recognize some hereditary differentials for inclusions found in leukocytes.
Cell organelles
Abnormal cellular components
Phagocytized material
Infectious agents
You notice reddish granulation in the neutrophils of a Birman cat. What is the clinical significance of this finding? What other breeds has this been reported in?
No clinical significance (not lysosomal storage disease or toxic granulation)
Birman, siamese, himalayan cats
Be able to name breeds in which macrothrombocytopenia has been identified. What is the clinical significance of this finding in these breeds?
CKCS, Norfolk, Cairn terriers
No clinical significance, tx not indicated
What breeds may present with hereditary stomatocytosis? In which of these breeds is stomatocytosis associated with other conditions? Does prognosis differ between breeds? What are some non-hereditary causes of stomatocytosis?
Schnauzer, pomeranian: do not have clinical signs/issues
Malamutes: also have chondrodysplasia
Drentse patrijshond: also have hypertrophic gastritis, liver dz, polyneuropathy, renal cysts
Non-hereditary: seen with regenerative anemias (reticulocytes have excess cell membrane that folds over)
Why does hereditary elliptocytosis occur (what is happening on the celluar level)? What are some non-inherited causes of elliptocytosis? What is the clinical significance of hereditary elliptocytosis?
Hereditary: abnormalities in RBC skeletal membrane proteins
Non-inherited: dogs (BM disease), cats (sick)
Clinical significance: none
Understand the salient differences and similarities between hereditary and acquired methemoglobinemia. What enzyme deficiency is present with the hereditary form?
Methemoglobinemia occurs when Hb-2+ oxidizes to Hb-3+ and therefore can’t carry oxygen
Hereditary: deficiency of MetHb Reductase, will not see other signs of oxidative damage, no anemia
Acquired: usually caused by toxins, will also see Heinz bodies, hemolytic anemia
What breeds/species may present with PK deficiency? How are clinical signs, signalment, CBC and biochemistry data, prognosis, and sequela different between dogs and cats? What testing options are available and what limitations exist for these testing options? What is the prognosis for dogs and cats with this disease?
Basenji, Beagle, Abyssinian, Somali, DSH
Dogs: markedly regenerative anemia, spheroechinocytes
Cats: hyerglobulinemia, lymphocytosis
Dx: enzyme activity, genetic test (breed specific, neither work all the time in dogs)
Tx: none
Prognosis: dogs die 1-5 years, cats OK
What species/breeds may present with PFK deficiency? What are the clinical signs and laboratory findings in this disease? What testing options are available and what limitations exist for these testing options? What is the prognosis for dogs with this disease and what instructions will you give their owners?
English springer spaniel, american cocker spaniel, whippet, wachtelhund (DOGS ONLY)
Set off by exercise and hyperventilation
Episodic anemia, hemoglobinuria, hypoxia
Muscle cramping/myopathy
Dx: enzyme activity, genetic test
Tx: reduce exercise and hyperventilation
Px: good, can have normal life expectancy
