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

Investigations in healthy persons have shown that drinking mineral water containing HCO(3) has a positive effect on urine supersaturated with calcium oxalate (SS(CaOx)). The present study evaluates in a common setting whether these effects are also relevant in patients with multiepisodic urinary stone formation. A total of 34 patients with evident multiepisodic CaOx-urolithiasis were included in the study. Patients with hyperparathyroidism, renal tubular acidosis, Wilson's disease, Cushing disease, osteoporosis and malignant diseases were excluded. In a cross-over design and double-blinded the patients received 1.5 l of a mineral water with 2.673 mg HCO(3)/l (test water) or the same amount of water with a low mineral content (98 mg HCO(3)/l) (control water) daily for 3 days. During the study period the patients diet was recorded in a protocol, but not standardised. The main target parameter was SS(CaOx )in 24 h urine. In addition, urinary pH and the most important inhibiting and promoting factors were measured in 24 h urine (Ca, Ox, Mg, Cit). Both waters tested led to a highly significant increase in 24 h urine volume without a difference between each other. In the group, drinking the water containing HCO(3) the urinary pH increased significantly and was within a range relevant for metaphylaxis of calcium oxalate stone formation (x=6.73). This change was highly significant compared to the control group. In addition, significantly increased magnesium and citrate concentration were also observed. Supersaturation with calcium oxalate decreased significantly and to a relevant extent; however, there was no difference between the waters tested. As expected, the risk of uric acid precipitation also decreased significantly under bicarbonate water intake. However, an increase of the risk of calcium phosphate stone formation was observed. It is evident that both waters tested are able to lower significantly and to a relevant extent the risk of urinary stone formation in patients with multiepisodic CaOx-urolithiasis. In addition, the bicarbonate water increases the inhibitory factors citrate and magnesium due to its content of HCO(3) and Mg. Thus, it can be recommended for metaphylaxis of calcium oxalate and uric acid urinary stones.
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PMID:Clinical study on the effect of mineral waters containing bicarbonate on the risk of urinary stone formation in patients with multiple episodes of CaOx-urolithiasis. 1733 4