Gene/Protein Disease Symptom Drug Enzyme Compound
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Four male and two female Holstein-Friesian calves with segmental aplasia of the spinal cord were examined macroscopically and radiographically, and in some cases also histologically. External symptoms included inability to stand, deep depression of the body near the middle of the back but without any blemish in the skin, and slight reduction of the body length. Both hind limbs were almost normal. In every case segmental aplasia of the spinal cord was observed between the caudal thoracic and the cranial lumbar region. Owing to this defect, the vertebrae of that limited area consisted only of the body and the ribs fused on both sides. The sternum showed abnormal ossification at its caudal part. Other defects were observed such as kyphoscoliosis (six cases), polycystic kidney (one case), cryptorchidism (one case), and XX/XY chimerism (one case). From these findings it was apparent that this anomaly was uniquely different from the other two main spinal cord anomalies, spina bifida and perosomus elumbis. One conceivable pathogenesis of this rare anomaly, it was conjectured, is as follows: This anomaly results primarily from a segmental disorder of the neural tube, probably due to vascular problems, whereby a part of the spinal cord fails to develop properly from its normal genesis. Anomalous shapes of the vertebral column and ribs are perhaps secondary defects caused by aplasia of the spinal cord.
Anat Rec 1987 Dec
PMID:Anatomical observation of six calves affected with segmental aplasia of the spinal cord. 344 55

The prevalence of polycystic kidney disease was assessed in 132 Persian cats, 46 of them referred for the investigation and treatment of medical or surgical conditions, and 86 apparently healthy cats referred specifically to be screened for the disease. Cats referred for the investigation of renomegaly or renal failure were excluded, and cats under 10 months old were only included if they had been examined postmortem. One hundred and twenty-six of the cats were examined ultrasonographically with a 7.5 MHz sector scanner, and the other six cats were examined postmortem. Forty-nine of the 86 cats referred specifically for screening (57.0 per cent) and 16 of the 46 cats referred for other clinical reasons (34.8 per cent) were affected by the disease, giving an overall prevalence of 49.2 per cent.
Vet Rec 2001 Oct 06
PMID:Prevalence of polycystic kidney disease in Persian cats in the United Kingdom. 1167 12

Rodent models of polycystic kidney disease (PKD) have provided valuable insight into the cellular changes associated with cystogenesis in humans. The present study characterizes the morphology of renal and extrarenal pathology of autosomal recessive PKD induced by the wpk gene in Wistar rats. In wpk(-/-) rats, proximal tubule and collecting duct cysts develop in utero and eventually consume the kidney. Increased apoptosis, mitosis, and extracellular tenascin deposition parallel cyst development. Extrarenal pathology occurs in the immune system (thymic and splenic hypoplasia) and central nervous system (CNS; hypoplasia to agenesis of the corpus callosum with severe hydrocephalus). Severity of hydrocephalus varied inversely with size of the corpus callosum. In wpk(-/-) rats, the corpus callosum exhibits relatively few axons that cross the midline. This CNS pathology is similar to that described in three human renal cystic syndromes: orofaciodigital, genitopatellar, and cerebrorenal-digital syndromes. Collecting duct and ventricular ependymal cilia appear morphologically normal. To determine if rodent background strain and the presence of modifier genes affect severity of the disease, we crossed the Wistar-wpk rat with Brown Norway (BN) and Long Evan (LE) rats and found the degree of renal and cerebral pathology was diminished as evidenced by lower kidney weight as a percent of body weight and serum urea nitrogen concentration in cystic rats on LE or BN strains as well as less prominent cranial enlargement. Crosses with BN rats allowed us to localize the wpk gene on chromosome 5 very close to the D5Rat73 marker. The wpk gene lies within a chromosomal region known to harbor a PKD modifier locus. In summary, the types of renal and cerebral pathology seen in the Wistar wpk rat are a unique combination seen only in this rodent model.
Anat Rec A Discov Mol Cell Evol Biol 2004 Apr
PMID:Development of multiorgan pathology in the wpk rat model of polycystic kidney disease. 1505 65

The rat Pck gene is orthologous to the human PKHD1 gene responsible for autosomal recessive polycystic kidney disease (ARPKD). Both renal and hepatic fibrocystic pathology occur in ARPKD. Affected humans have a variable rate of progression, from morbidly affected infants to those surviving into adulthood. This study evaluated the PCK rat, a model of slowly progressive ARPKD. This model originated in Japan and was rederived to be offered commercially by Charles River Laboratories (Wilmington, MA). Previous studies have described the basic aspects of PCK pathology from privately held colonies. This study provides a comprehensive characterization of rats from those commercially available. Rats were bred, maintained on a 12:12 hr light/dark cycle, fed (7002 Teklad), and water provided ad libitum. Male and female rats were evaluated from 4 through 35 weeks of age with histology and serum chemistry. As the hepatorenal fibrocystic disease progressed beyond 18 weeks, the renal pathology (kidney weight, total cyst volume) and renal dysfunction (BUN and serum creatinine) tended to be more severe in males, whereas liver pathology (liver weight as % of body weight and hepatic fibrocystic volume) tended to be more severe in females. Hyperlipidemia was evident in both genders after 18 weeks. Bile secretion was increased in PCK rats compared with age-matched Sprague Dawley rats. The PCK is an increasingly used orthologous rodent model of human ARPKD. This characterization study of hepatorenal fibrocystic pathology in PCK rats should help researchers select stages of pathology to study and/or monitor disease progression during their longitudinal studies.
Anat Rec (Hoboken) 2010 Aug
PMID:Disease stage characterization of hepatorenal fibrocystic pathology in the PCK rat model of ARPKD. 2066 6

Persian-related and non-Persian-related cats were examined by ultrasonography and/or molecular testing to determine the prevalence of feline polycystic kidney disease (PKD) and the presence of a PKD1 gene mutation. PCR was used to amplify exon 29 of the PKD1 gene using genomic DNA extracted from blood samples, and the PCR products were analysed by direct DNA sequencing. Among the 111 cats included in the study, 54 were examined by both ultrasonography and gene testing for a point mutation in exon 29 of the PKD1 gene. The prevalence of PKD diagnosed by ultrasonography was 25.9 per cent in all the cats and 24.2 per cent in Persian-related cats. The prevalence of the transversion mutation in exon 29 of the PKD1 gene was 13.5 per cent in all cats and 15.7 per cent in Persian-related cats. Three cats that were diagnosed with PKD by ultrasonography did not have the mutation within exon 29. Nucleotide analysis of exon 29 indicated that male cats had a higher point mutation rate than female cats.
Vet Rec 2010 Oct 16
PMID:Diagnosis of feline polycystic kidney disease by a combination of ultrasonographic examination and PKD1 gene analysis. 2125 42