title: Feline congenital erythropoietic porphyria associated with severe anemia and renal disease. Clinical, morphologic, and biochemical studies.
abstract: A feline erythropoietic porphyria was studied in an affected female Siamese cat and 2 male offspring. The principal elevated porphyrins were Type I isomers of uroporphyrin and coproporphyrin; the porphyrin precursors, porphobilinogen and sigma-aminolevulinic acid, were also detected. Porphyrins were present in the blood and in all the viscera, teeth, bones, and excreta. There was severe macrocytic hypochromic anemia, hepatomegaly, splenomegaly, and uremia associated with a renal disease characterized by mesangial hypercellularity and proliferation (resulting in narrowing of glomerular capillaries) and ischemic tubular injury. There was thickening of tubular basement membranes and tubular epithelial lipidosis, degeneration, and necrosis. Electron microscopic studies of bone marrow and kidney revealed the presence of membrane-enclosed lamellar bodies 150 to 1000 nm in diameter in cytoplasmic and extracellular locations.
mesh_terms: D000747:Anemia, Hypochromic / Q000473:pathology / Q000662:veterinary*; D000818:Animals; D001344:Autopsy; D002371:Cat Diseases / Q000151:congenital* / Q000235:genetics; D002415:Cats; D005260:Female; D007674:Kidney Diseases / Q000473:pathology / Q000662:veterinary*; D008297:Male; D010375:Pedigree; D011164:Porphyrias / Q000235:genetics / Q000473:pathology / Q000662:veterinary*