Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Avian urolithiasis syndrome was diagnosed in 14-to-25-week-old chickens from a multiple-age caged-layer complex housing more than 2.5 million chickens. Losses from this syndrome ranged from 0.5 to 1.0% per week. Seven-to-14-week-old pullets from this facility had multifocal renal tubular necrosis leading to interstitial fibrosis, tophus formation, and tubular dilation. A coronavirus was isolated in embryos inoculated with pooled samples of trachea, kidney, and cecal tonsil of 4-week-old pullets. This virus, identified as 85-209, was related to infectious bronchitis virus strain Florida 88 by hemagglutination-inhibition assay. Day-old specific-pathogen-free chicks were inoculated with fifth-embryo-passage amnioallantoic fluid containing this virus. These chicks developed histologic lesions of tracheitis at 5 to 7 days postinoculation. Half the chicks inoculated by eyedrop developed renal tubular necrosis after 7 days. Urolithiasis in the flock investigated was attributed to renal damage by this strain of infectious bronchitis virus occurring in 4-to-7-week-old pullets and progressing to segmental atrophy, hyperplasia, and ureteral stone formation in 14-to-25-week-old chickens.
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PMID:Studies of avian urolithiasis associated with an infectious bronchitis virus. 282 78

Cystinuria is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in urolithiasis of cystine. Cystinuria is caused by defects in the amino acid transport system b0,+ (i.e. the rBAT/b0,+AT heteromeric complex). Mutations in SLC3A1, encoding rBAT, cause cystinuria type A, characterized by a silent phenotype in heterozygotes (phenotype I). Mutations in SLC7A9, encoding b0,+AT, cause cystinuria type B, in which heterozygotes in most cases hyperexcrete cystine and dibasic amino acids (phenotype non-I). To facilitate in vivo investigation of b0,+AT in cystinuria, Slc7a9 knockout mice have been generated. Expression of b0,+AT protein is completely abolished in the kidney of Slc7a9-/- mice ('Stones'). In contrast, Stones expressed significant amounts of rBAT protein, which is covalently linked to unidentified light subunit(s). Stones mice present a dramatic hyperexcretion of cystine and dibasic amino acids, while Slc7a9+/- mice show moderate but significant hyperexcretion of these amino acids (phenotype non-I). Forty-two per cent of Stones mice develop cystine calculi in the urinary system. Calculi develop during the first month of life and grow throughout the life span of the animals. Histopathology in kidney reveals typical changes for urolithiasis (tubular and pelvic dilatation, tubular necrosis, tubular hyaline droplets and chronic interstitial nephritis). The fact that some Stones mice, generated in a mixed genetic background, develop cystine calculi from an early age, while others do not develop them in their first year of life, suggests the involvement of modifier genes in the lithiasis phenotype. Thus, Stones provide a valid model of cystinuria which can be used in the study of genetic, pharmacological and environmental factors involved in cystine urolithiasis.
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PMID:Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. 1291 71

Nephrolithiasis has been reported in several aquatic mammals including bottlenose dolphins (Tursiops truncatus), small clawed otters (Amblonyx cinereus), European river otters (Lutra lutra), North American river otters (Lontra canadensis), northern elephant seals (Mirounga angustirostris), Florida manatees (Trichechus manatus latirostris), and California sea lions (Zalophus californianus). Compositions of calculi in previous cases were predominantly calcium oxalate or ammonium acid urate. Xanthine urolithiasis is rare in veterinary medicine. Primary cases (without exposure to xanthine dehydrogenase inhibitors) occur as a consequence of hereditary xanthinuria, although the causal mutation has only been discovered in a subset of cases. Five captive juvenile giant otters (Pteronura brasiliensis) from two facilities were diagnosed with nephrolithiasis: three siblings from one set of parents and two siblings from another pair. Serum analyte assays revealed renal compromise in affected individuals. Computed tomography (CT) confirmed the presence of nephrolithiasis in one individual. Postmortem evaluation identified extensive bilateral nephrolithiasis on gross necropsy in four of five cases. Calculus analyses identified 100% xanthine composition. Histologic examination revealed marked nephrolithiasis with associated tubular necrosis and gastric mineralization. Nutrient composition of the diet including mineral and purine content was assessed. No association between diet and nephroliths was found in this study. This is the first report of xanthine nephrolithiasis in aquatic mammals. The potential role of diet and genetics in xanthine nephrolithiasis in the small inbred population of giant otters under human care needs further investigation to assess the implications of this disease process for the long-term captive management of this species.
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PMID:XANTHINE NEPHROLITHIASIS IN JUVENILE CAPTIVE GIANT OTTERS (PTERONURA BRASILIENSIS). 3192 28