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)

Wilson's disease is a rare autosomal recessive disorder that typically presents as hepatic, neurological or psychiatric illness in late adolescence and early adulthood. Although urolithiasis has been documented in as many as 16% of patients with Wilson's disease, only 3 cases have been described that presented with stone disease. We report on a healthy 17-year-old girl who presented with renal colic and a distal ureteral calculus that was subsequently passed. The patient was hospitalized 2 months later with jaundice, ascites, hyperchloremic metabolic acidosis and elevated hepatic enzymes. She was hypophosphatemic and hypouricemic with a low serum ceruloplasmin. Diagnosis was Wilson's disease with Fanconi's syndrome, but despite penicillamine therapy and intensive care support rapidly progressive hepatic failure, coagulopathy and encephalopathy developed. The patient died before emergency liver transplantation. Our case illustrates the role urologists may have in the diagnosis of this rare but potentially treatable disease. Wilson's disease should be considered in the differential diagnosis of any adolescent or young adult with urolithiasis.
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PMID:Wilson's disease presenting as symptomatic urolithiasis: a case report and review of the literature. 805 76

Urinary proteins have been implicated as inhibitors of kidney stone formation (urolithiasis). As a proximal fluid, prefiltered by the kidneys, urine is an attractive biofluid for proteomic analysis in urologic conditions. However, it is necessary to correct for variations in urinary concentration. In our study, individual urine samples were normalized for this variation by using a total protein to creatinine ratio. Pooled urine samples were compared in two independent experiments. Differences between the urinary proteome of stone formers and nonstone-forming controls were characterized and quantified using label-free nano-ultraperformance liquid chromatography high/low collision energy switching analysis. There were 1063 proteins identified, of which 367 were unique to the stone former groups, 408 proteins were unique to the control pools, and 288 proteins were identified for comparative quantification. Proteins found to be unique in stone-formers were involved in carbohydrate metabolism pathways and associated with disease states. Thirty-four proteins demonstrated a consistent >twofold change between stone formers and controls. For ceruloplasmin, one of the proteins was shown to be more than twofold up-regulated in the stone-former pools, this observation was validated in individuals by enzyme-linked immunosorbent assay. Moreover, in vitro crystallization assays demonstrated ceruloplasmin had a dose-dependent increase on calcium oxalate crystal formation. Taken together, these results may suggest a functional role for ceruloplasmin in urolithiasis.
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PMID:Label-free quantitative proteomics reveals differentially regulated proteins influencing urolithiasis. 2147 97