A novel model of XXXX in Dalmatian @entity235 .

@entity1 @entity32 @entity8 @entity82 @entity235 @entity32747 @entity3686 @entity177 @entity2319 @entity735 @entity1463 @entity74 @entity30217 @entity71044 @entity71045 @entity1011 @entity631 @entity71046
BACKGROUND: @entity30217 is a rare @entity74 characterized clinically by haematuria, @entity177 and @entity2319 , and ultrastructurally by a lamellated @entity631 ( @entity631 ). It is usually caused by mutations in the @entity71044 or @entity71045 genes which code for the alpha3 and alpha4 chains of type IV collagen. We describe here a novel spontaneous model of @entity30217 in Dalmatian @entity235 . METHODS: Affected @entity235 were identified by a urinary protein @entity1011 >/=0.3. A total of 10 affected adult Dalmatians and eight unaffected age- and sex-matched @entity235 from breeds other than Dalmatians were examined. In addition, kidneys from five Dalmatian fetuses from affected mothers were examined histologically and ultrastructurally. RESULTS: All affected @entity235 were purebred Dalmatians and had a common progenitor. Successive generations were affected, and males and females were affected equally often and equally severely, consistent with autosomal dominant inheritance. The median age at onset of @entity177 was 18 months (range 8 months to 7 years). Affected @entity235 were not clinically deaf, and did not have the @entity735 seen in @entity1 X-linked or @entity32747 . In addition, they did not have the leucocyte inclusions, low platelet counts or large platelets seen in autosomal dominant @entity3686 due to @entity71046 mutations. The renal histology and ultrastructural appearance of the @entity631 appeared to be normal in utero. However, affected adult kidneys demonstrated @entity8 and @entity1463 with tubulo-interstitial @entity32 and @entity82 , and on ultrastructural examination the @entity631 was lamellated with subepithelial frilling, vacuolation and occasional intramembranous deposits. All alpha1(IV)-alpha5(IV) type IV collagen chains were present in the affected @entity631 and Bowman's capsule. CONCLUSIONS: @entity30217 in Dalmatians resembles the disease in Bull terriers but has arisen independently. These models will enable us to determine how genetic mutations affect the corresponding proteins and overall membrane structure in @entity30217 .
