Aceasta este o lista a bolilor genetice sau ereditare care au fost
raportate si rasele afectate. Veti gasi si o scurta descriere a bolii
si referinte la lucrari pe aceasta tema publicate. Este precizat si
modul de transmisie, acolo unde se cunoaste. O lista completa a bolilor
genetice si ereditare care afecteaza o rasa in particular poate fi
gasita aici.
Va rugam sa luati in considerare ca aceste informatii sunt destinate
medicilor veterinari si ca sunt folositi termeni de specialitate, fara
a fi tradusi in limbajul obisnuit.
Amyloidosis Rase afectate: Abysinnian
Chew DJ, DiBartola SP, Boyce JT, et al. 1982. Renal amyloidosis in related Abyssinian cats. JAVMA 181 139 Alpha-mannosidosis Clinical signs: progressively worsening neurological signs including tremors, loss of balance, and nystagmus from 4 to 18 weeks of age.
References Vite CH, McGowan JC, Braund KG,
Drobatz KJ, Glickson JD, Wolfe JH, Haskins ME. 2001 Histopathology,
electrodiagnostic testing, and magnetic resonance imaging show
significant peripheral and central nervous system myelin abnormalities
in the cat model of alpha-mannosidosis. J Neuropathol Exp Neurol.
60(8):817-28.
Alpha-mannosidosis is a disease caused by the deficient activity of
alpha-mannosidase, a lysosomal hydrolase involved in the degradation of
glycoproteins. The disease is characterized by the accumulation of
mannose-rich oligosaccharides within lysosomes. The purpose of this
study was to characterize the peripheral nervous system (PNS) and
central nervous system (CNS) myelin abnormalities in cats from a
breeding colony with a uniform mutation in the gene encoding
alpha-mannosidase. Three affected cats and 3 normal cats from 2 litters
were examined weekly from 4 to 18 wk of age. Progressively worsening
neurological signs developed in affected cats that included tremors,
loss of balance, and nystagmus. In the PNS, affected cats showed slow
motor nerve conduction velocity and increased F-wave latency. Single
nerve fiber teasing revealed significant demyelination/remyelination in
affected cats. Mean G-ratios of nerves showed a significant increase in
affected cats compared to normal cats. Magnetic resonance imaging of
the CNS revealed diffuse white matter signal abnormalities throughout
the brain of affected cats. Quantitative magnetization transfer imaging
showed a 8%-16% decrease in the magnetization transfer ratio in brain
white matter of affected cats compared to normal cats, consistent with
myelin abnormalities. Histology confirmed myelin loss throughout the
cerebrum and cerebellum. Thus, histology, electrodiagnostic testing,
and magnetic resonance imaging identified significant myelination
abnormalities in both the PNS and CNS that have not been described
previously in alpha-mannosidosis. Anaemia - vezi Pyruvate kinase deficiency, Ataxia - vezi Mucolipidosis type II, Axonopathy - vezi Distal axonopathy, Azotaemia Rase afectate: Birman Reference
Gunn-Moore DA, Dodkin SJ, Sparkes AH. 2002 An unexpectedly high
prevalence of azotaemia in Birman cats. J Feline Med Surg. 4(3):165-6. Blindness - vezi Mucolipidosis type II, Progressive retinal atrophy (PRA), Cardiac defect - vezi Myocardial disease, Mucolipidosis type II, Patent ductus arteriosis, Ventricular septal defect, Cardiomyopathy - vezi Cataracts - vezi Chediak-Higashi syndrome, Cerebellar degeneration Clinical signs:
cerebellar dysfunction from the age of 7 to 8 weeks onward. Becomes
progressively worse, but not fatal, between 1 and 2.5 months.
Mode of inheritance: autosomal recessive.
Inada S, Mochizuki M, Izumo S, Kuriyama M, Sakamoto H, Kawasaki Y,
Osame M. 1996 Study of hereditary cerebellar degeneration in cats. Am J
Vet Res. 57(3):296-301.
OBJECTIVE--To elucidate the nature of ataxia observed in 3 cats
spanning 2 generations. DESIGN--Experimental breeding was attempted to
confirm heritability of the disease and establish the mode of
inheritance; the original 3 cats and their offspring were studied.
ANIMALS--Seven diseased cats spanning 3 generations and 11
neurologically normal cats. PROCEDURE--Cats were examined by use of the
following methods: clinical observation, hematologic and serum
biochemical examinations, neurologic examination, electrodiagnostics,
magnetic resonance imaging, lysosomal enzyme activity assay, horizontal
transmission test, and virologic and pathologic examinations.
RESULTS--All kittens (1 male and 3 females) obtained by backcrosses
developed pure cerebellar dysfunction from the age of 7 to 8 weeks
onward. It became progressively worse, but not fatal, between 1 and 2.5
months. Prenatal or perinatal infection with feline panleukopenia
virus, inherited lysosomal storage diseases, including gangliosidosis
and mannosidosis, and feline hereditary neuroaxonal dystrophy were
excluded. Magnetic resonance imaging indicated that size of the
cerebellum of diseased cats was markedly reduced. Cerebellar cortical
degeneration, especially with extensive destruction of Purkinje cells,
was observed microscopically. CONCLUSION--The disease was concluded to
be cerebellar degeneration of a new clinical form in cats having an
autosomal recessive mode of inheritance. CLINICAL RELEVANCE--When
cerebellar dysfunction is diagnosed in a cat, hereditary cerebellar
degeneration of this type should be considered in the differential
diagnosis. Chediak-Higashi syndrome Rase afectate: Smoke blue Persians Clinical signs: cataracts, nystagmus
References: Collier LL, Bryan GM, Prieur DJ. 1979.
Ocular manifestations of the Chediak-Higashi syndrome in four
species of animals. JAVMA 175 587-590 Ocular examinations were
performed on cattle, cats, mink, and mice affected with Chediak-Higashi
syndrome (CHS). Bovine eyes were examined grossly and with an indirect
ophthalmoscope, and Schirmer tear tests were performed. Feline eyes
were examined grossly as well as with an indirect opthalmoscope and a
slit lamp biomicroscope, and Schirmer tear tests were done on them.
Postrotatory nystagmus was induced and measured in clinically normal
Siamese cats, in clinically normal Persian and domestic short-haired
cats, and in cats with CHS. Mink and mouse eyes were examined grossly
with focal illumination. The animals with CHS had photophobia, pale
irises, and fundic hypopigmentation associated with red fundic light
reflections. Cats with CHS also had cataracts. Spontaneous nystagmus
was observed in four of nine cats with CHS, and the duration of induced
nystagmus was longer in the cats with CHS and in Siamese cats than in
clinically normal cats that were not Siamese. Tear secretion appeared
to be normal in all species of animals with CHS. The ocular
manifestations of CHS in these animals were compared with those
reported in man and were found to be similar.
Collier LC, King EJ, Prieur DJ. 1985 Tapetal degeneration in cats with Chediak-Higashi syndrome. Curr. Eye Res. 4 767-733
Kramer JW, Davis WC, Prieru DJ. 1977 The Chediak-Higashi syndrome of cats. Lab. Invest. 36 554-562 Christmas disease - vezi Haemophilia B - factor IX deficiency - Christmas disease, Coagulopathies - vezi Hageman (coagulation factor XII) deficiency, Rase afectate: Devon Rex Congenital hypothyroidism Rase afectate: Abysinnian
Jones BR, Gruffydd-Jones TJ, Sparkes AH. 1991 Congenital hypothyroidism in the cat. FAB Bulletin 28 1 12 Congenital vestibular disease Rase afectate: Birmans, British Cream, Burmese, Persian, Siamese Chrisman CL. 1980 Vet. Clin. N. Amer. 10 103
deLahunta A. 1977 Veterinary Neuroanatomy and Clinical Neurology. WB Saunders, Philadelphia 22
Evans RJ. 1985 The nervous system. In Feline Medicine and Therapeutics. (Ed.) Chandler EA, Hilbery ADR, Gaskell CJ. 54 Corneal sequestrum - vezi Mucopolysaccharidosis I. , Rase afectate: Persian Featherstone
HJ, Sansom J.2004 Feline corneal sequestra: a review of 64 cases (80
eyes) from 1993 to 2000.Vet Ophthalmol. 2004 Jul-Aug;7(4):213-27.
Davies White Veterinary Specialists, Manor Farm Business Park, Higham Gobion SG3 5HR, UK. hjf@vetspecialists.co.uk
Feline corneal sequestrum is a common condition of the feline
cornea. The purpose of this study was to provide a detailed description
of the clinical features of the condition including the response to
different management options and to assess the rate of recurrence. The
medical records of 64 cases (80 eyes) of feline corneal sequestra that
presented to the Animal Health Trust from 1993 to 2000 were reviewed.
Fifty-two cases were reviewed retrospectively; 12 cases were assessed
prospectively between April and September 2000 as part of a separate
study. The Persian was the most frequently encountered breed and the
mean age of affected cats was 5.6 years. At initial presentation,
sequestra were unilateral in 58 cats and bilateral in 6 cats, 5 of
which were Persians. Ocular discomfort and ocular discharge were common
presenting signs, occurring in 42 and 36 eyes, respectively.
Seventy-four eyes were managed surgically with keratectomy only (n =
44) or keratectomy followed by a graft procedure (n = 30). Sequestra
recurred in 16 eyes in the study. There was no significant difference
in the rate of recurrence between eyes that received a graft procedure
(n = 5) and eyes that did not (n = 11) (P = 0.56). Complications
following transection of conjunctival pedicle grafts were observed.
Brown to black discoloration of noncorneal tissue and therapeutic
biomaterials was observed, including discoloration of both viable and
apparently nonviable grafted conjunctival tissue, small intestinal
submucosa graft material and bandage contact lenses. Craniofacial malformation Rase afectate: Burmese kittens The
cranial cavity is enlarged, cerebral hemispheres duplicated, eyes
missing or small, there may be no nostrils or naval cavities.
Anon. 1982. Craniofacial malformation in Burmese kittens. Feline Practice. 12 6 32-33 Cutaneous asthenia - vezi Ehlers-Danlos Syndrome, Deafness Dermatosparaxis - vezi Ehlers-Danlos Syndrome, Diabetes mellitus Rase afectate: Burmese, domestic Rand J. 1999 Current understanding of feline diabetes: part 1, pathogenesis.J Feline Med Surg. 1(3):143-53.
Type-1 diabetes, resulting from immune-mediated destruction of beta
cells, appears to be rare in cats. Type-2 diabetes, characterised by
inadequate insulin secretion and impaired insulin action, is the most
common form of diabetes in cats. Other specific forms of diabetes
constitute a substantial minority of cases. The most common is
pancreatic destruction from pancreatic adenocarcinoma. Less frequent
causes are insulin resistance from other endocrinopathies including
acromegaly. Diabetes in cats is characterised by variable loss of
insulin secretory capacity and insulin resistance. Glucose toxicity,
islet amyloid-deposition, and pancreatitis contribute to further loss
of beta cells and failure of insulin secretion. A significant number of
cats undergo remission of their diabetes, usually 1-3 months after good
glycaemic control is instituted. Obesity, old age, and Burmese breed
are recognised risk factors for the development of diabetes in cats.
Rand JS, Fleeman LM, Farrow HA, Appleton DJ, Lederer R. 2004 Canine
and feline diabetes mellitus: nature or nurture? J Nutr. 134(8
Suppl):2072S-2080S.
There is evidence for the role of genetic and environmental factors in
feline and canine diabetes. Type 2 diabetes is the most common form of
diabetes in cats. Evidence for genetic factors in feline diabetes
includes the overrepresentation of Burmese cats with diabetes.
Environmental risk factors in domestic or Burmese cats include
advancing age, obesity, male gender, neutering, drug treatment,
physical inactivity, and indoor confinement. High-carbohydrate diets
increase blood glucose and insulin levels and may predispose cats to
obesity and diabetes. Low-carbohydrate, high-protein diets may help
prevent diabetes in cats at risk such as obese cats or lean cats with
underlying low insulin sensitivity. Evidence exists for a genetic basis
and altered immune response in the pathogenesis of canine diabetes.
Seasonal effects on the incidence of diagnosis indicate that there are
environmental influences on disease progression. At least 50% of
diabetic dogs have type 1 diabetes based on present evidence of immune
destruction of beta-cells. Epidemiological factors closely match those
of the latent autoimmune diabetes of adults form of human type 1
diabetes. Extensive pancreatic damage, likely from chronic
pancreatitis, causes approximately 28% of canine diabetes cases.
Environmental factors such as feeding of high-fat diets are potentially
associated with pancreatitis and likely play a role in the development
of pancreatitis in diabetic dogs. There are no published data showing
that overt type 2 diabetes occurs in dogs or that obesity is a risk
factor for canine diabetes. Diabetes diagnosed in a bitch during either
pregnancy or diestrus is comparable to human gestational diabetes. Diaphragmatic hernia Most diaphragmatic hernias are traumatic in origin (usually post road accident).
References Stork CK, Hamaide AJ, Schwedes C, Clercx CM,
Snaps FR, Balligand MH. 2003 Hemiurothorax following diaphragmatic
hernia and kidney prolapse in a cat.J Feline Med Surg. 5(2):91-6
A 3-year-old cat was presented with increasing dyspnoea over the past
four days. Unilateral pleural effusion was diagnosed and a modified
transudate was drained several times. Surgical exploration revealed
intra-thoracic prolapse of the left kidney and partial herniation of
the spleen through a dorsal, circumferential diaphragmatic tear.
Biochemical analysis of the pleural fluid confirmed urothorax. Due to
excessive fibrin deposit on the well-vascularised kidney it was
impossible to re-establish left urinary pathways. Left-sided
nephrectomy and diaphragmatic herniorrhaphy were performed.
Postoperative recovery was uneventful and complete. This is the first
report of an urothorax in veterinary medical literature.
White JD, Tisdall PL, Norris JM, Malik R. 2003 Diaphragmatic hernia
in a cat mimicking a pulmonary mass. J Feline Med Surg. (3):197-201.
A seven-year-old castrated British shorthair cross cat was presented
for coughing of five-weeks duration. Thoracic radiographs and an
unguided bronchoalveolar lavage showed changes consistent with
inflammatory airway disease. In addition, a soft tissue density was
evident in the thoracic films between the heart and the diaphragm.
Exploratory thoracotomy demonstrated a diaphragmatic hernia, probably
congenital in origin, with incarceration of a portion of the hepatic
parenchyma. The herniated portion of liver was resected surgically and
the defect in the diaphragm closed. The cat was given a 10-day course
of doxycycline post-operatively and the cough did not recur
subsequently. In retrospect, the hernia was potentially an incidental
problem, the cat's coughing being attributable to inflammatory airway
disease. Distal axonopathy Rase afectate: Birman Kittens of 8 to 10 weeks of age with slowly progressive posterior ataxia.
References: Moreau PM, Vallat JM, Hugon J, Leboutet MJ,
Vandevelde M. 1991 Peripheral and central distal axonopathy of
suspected inherited origin in Birman cats.Acta Neu ropathol (Berl).
82(2):143-6.
Three female cats, littermates born from clinically normal parents,
were examined at 8 to 10 weeks of age because of a slowly progressive
posterior ataxia. Another cat from a previous litter from the same
parents suffered from similar neurological symptoms. Histopathological
examination of the nervous tissues of these animals revealed
degeneration of axons and myelinopathy in a distal distribution
pattern. Both peripheral nerves and central nervous system were
involved. The central nervous system lesions were most prominent in the
lateral pyramidal tracts of the spinal cord, the fasciculi gracili of
the dorsal column in the cervical spinal cord and the cerebellar
vermian white matter. In the PNS numerous degenerating nerve fibers
were found in the sciatic nerves but not in the spinal nerve roots. Our
findings show that these cats were suffering from a hereditary
multisystem degeneration with a distribution pattern of the lesions
suggestive of a distal axonopathy. Dwarfism - vezi Gangliosidosis, Mucopolysaccharidosis, Mucopolysaccharidosis VI, Rase afectate: Domestic, Siamese Associated
with lysosomal storage disease of the liver, these cats die between 1
and 4 months of age. Uneven litter sizes have been reported in cats
infected with feline coronavirus.
Hegreberg GA, Norby DE. 1973. An inherited storage disease of cats. Fed. Proc. 32 821
Hegreberg GA, Norby DE, Hamilton MJ. 1974. Lysosomal enzyme changes in an inherited dwarfism of cats. Fed Proc. 33 598. Dystocia Rase afectate: Devon Rex, Persian, Siamese-type Gunn-Moore
DA, Thrusfield MV. 1995 Feline dystocia: prevalence, and association
with cranial conformation and breed.Vet Rec. 136(14):350-3.
The litter prevalence of feline dystocia was investigated using a
questionnaire survey of cat breeders. Information was obtained on 2928
litters, from 735 queens. Dystocia was reported to have occurred in 5.8
per cent of litters. The level of dystocia in individual breeds ranged
from 0.4 per cent of litters born in a large colony of cats of mixed
breeding, to 18.2 per cent of litters in the Devon rex. Pedigree
litters were at significantly higher risk than litters of cats of mixed
breeding (odds ratio: 22.6). Relatively high levels of dystocia were
identified in Siamese-type, Persian and Devon rex litters, whereas cats
of mixed breeding showed a relatively low litter prevalence.
Dolicocephalic and brachycephalic types were found to have
significantly higher levels of dystocia than mesocephalic cats. Ehlers-Danlos Syndrome Cutaneous
asthenia is a connective tissue disease primarily of dogs and cats,
resembling Ehlers-Danlos syndrome in man. It has also been reported in
a rabbit. The skin is hyperextensible, thin, and fragile.
No breed predilection recorded so far.
References Benitah N, Matousek JL, Barnes RF,
Lichtensteiger CA, Campbell KL. 2004 Diaphragmatic and perineal hernias
associated with cutaneous asthenia in a cat. J Am Vet Med Assoc. Mar
1;224(5):706-9, 698.
An 11-year-old cat was evaluated because of dyspnea. Since 11 months of
age, the cat had hyperextensibility of the skin consistent with
cutaneous asthenia. Radiographic examination revealed a diaphragmatic
hernia with intestinal loops in the thorax. Electron microscopic
examination of skin specimens revealed collagen fibers of highly
variable diameter, consistent with cutaneous asthenia. The
diaphragmatic hernia was surgically repaired and healed well. Four
weeks later, a left-sided perineal hernia was repaired surgically, and
4 months later, a right-sided perineal hernia was repaired surgically
and colopexy and cystopexy were performed. All surgical procedures were
successful and tissues healed well. Dermatosparaxis is a rare
hereditary disorder that commonly results in cutaneous fragility and
hyperextensibility in affected animals. The diagnosis depends on
clinical findings and light and electron microscopic changes in
affected tissues. Surgical repair can be performed successfully in an
affected cat, and healing of incisions can occur without complications.
Freeman LJ, Hegreberg GA, Robinette JD, Kimbrell JT. 1989
Biomechanical properties of skin and wounds in Ehlers-Danlos
syndrome.Vet Surg. 8(2):97-102.
The biomechanical properties of wounded and nonwounded skin were
studied in three dogs and three cats affected with type I Ehlers-Danlos
syndrome. Three nonaffected dogs and one nonaffected cat served as
controls. Samples of wounded skin and adjacent normal skin were
harvested at days 75, 138, 141, 144, 147, and 150. Samples were
subjected to uniaxial tensile strength testing. Tensile strength,
energy absorbed, and site of failure were recorded. In the dogs with
Ehlers-Danlos syndrome, there was an increase in tensile strength in
samples containing a scar over adjacent intact skin. In nonaffected
dogs, affected cats and the nonaffected cat, the nonwounded skin
samples had greater tensile strength. The energy absorbed by the skin
samples during testing was highly correlated with tensile strength.
Freeman LJ, Hegreberg GA, Robinette JD. 1989 Cutaneous wound healing in Ehlers-Danlos syndrome.Vet Surg. 18(2):88-96.
Wound healing in five dogs and five cats affected with a connective
tissue dysplasia resembling Ehlers-Danlos syndrome of humans was
compared with wound healing in 10 nonaffected animals. Six skin
incisions on the lateral aspects of the thorax and abdomen of each
animal were sutured and assessed daily for 75 days for evidence of
healing. All wounds in nonaffected dogs, affected cats, and nonaffected
cats healed by first intention. Three incisions in affected dogs had
dehiscence of all or part of the incision line and healed by
granulation, contraction, and epithelialization. Biopsies taken at 3,
6, 9, 12, 15, and 75 days were compared histologically to determine if
there were any differences in rates of healing between affected and
nonaffected animals. Epidermal thickening and scab formation were noted
at days 3 and 6 in both affected and nonaffected animals. Infiltration
with mononuclear cells and fibroplasia steadily increased from day 6 to
day 15 in all groups. Collagen fibril formation was evident by day 9.
At day 75, incision sites were recognized by fine, more compact
collagen bundles and lack of adnexal structures, as compared with the
adjacent dermis in both affected and nonaffected animals. Although
delayed wound healing has been reported to be a complication of
Ehlers-Danlos syndrome in humans, using clinical and histologic
criteria, wound healing in dogs and cats with Ehlers-Danlos syndrome
appears to be similar to nonaffected animals. Encephalomyelopathy Rase afectate: Birman
Onset
2-5 months of age. Hindlimb paresis and ataxia, which progresses to
paralysis. Bilateral nuclear cataracts may be present. Condition is
inherited. Histopathology: spongy changes, vacuolation and wallerian
degeneration, mainly in thoracolumbar spinal cord. Diffuse lesions also
present in brain. No treatment. Facial dysmorphia - vezi Mucolipidosis type II, Factor (coagulation) VIII deficiency - see Hemophilia A Factor (coagulation) IX deficiency - vezi Haemophilia B - factor IX deficiency - Christmas disease, Factor (coagulation) XII deficiency - vezi Hageman (coagulation factor XII) deficiency, Familial hyperlipaemia Rase afectate: Siamese Feline infectious peritonitis Rase afectate: Abyssinians, Bengals, Birmans, Himalayans, Ragdolls, Rexes References
Pesteanu-Somogyi LD, Radzai C, Pressler BM. 2005 Prevalence of feline
infectious peritonitis in specific cat breeds. J Feline Med Surg.
Although known that purebreed cats are more likely to develop feline
infectious peritonitis (FIP), previous studies have not examined the
prevalence of disease in individual breeds. All cats diagnosed with FIP
at a veterinary teaching hospital over a 16-year period were
identified. Breed, sex and reproductive status of affected cats were
compared to the general cat population and to mixed breed cats
evaluated during the same period. As with previous studies sexually
intact cats and purebreed cats were significantly more likely to be
diagnosed with FIP; males and young cats also had a higher prevalence
of disease. Abyssinians, Bengals, Birmans, Himalayans, Ragdolls and
Rexes had a significantly higher risk, whereas Burmese, Exotic
Shorthairs, Manxes, Persians, Russian Blues and Siamese cats were not
at increased risk for development of FIP. Although additional factors
doubtlessly influence the relative prevalence of FIP, this study
provides additional guidance when prioritizing differentials in ill
purebreed cats. Click aici pentru continuare
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