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)

The routine use of ultrasonography has resulted in an explosion in the number of conditions reported to be associated with nephrocalcinosis. It has also been increasingly recognized that urolithiasis and nephrocalcinosis can coexist in the same patient. The two conditions most commonly associated with nephrocalcinosis in childhood are the use of furosemide in infancy and the treatment of patients with hypophosphatemic rickets with phosphate and vitamin D preparations. Although originally thought to be related to hypercalciuria, more recent studies in humans and research animals indicate a multifactorial etiology for furosemide-related nephrocalcinosis. In patients with hypophosphatemic rickets, it seems that the dose of phosphate and in particular the development of secondary hyperparathyroidism play a central role in the development of nephrocalcinosis. Among the entities recently reported to be associated with nephrocalcinosis are some that characteristically include Fanconi's syndrome. These findings dispute the previous teaching of lack of renal calcifications in this syndrome, which involves proximal renal tubular acidosis. The diagnosis of nephrocalcinosis requires a metabolic work-up to identify the offending factor. When identified, appropriate intervention should be instituted.
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PMID:Nephrocalcinosis. 920 44

Calcium urolithiasis is often associated with increased intestinal absorption and urine excretion of calcium, and has been suggested to result from increased vitamin D production. The role of the enzyme 1 alpha-hydroxylase, the rate-limiting step in active vitamin D production, was evaluated in 36 families, including 28 sibships with at least a pair of affected sibs, using qualitative and quantitative trait linkage analyses. Sibs with a verified calcium urolithiasis passage (n = 117) had higher 24-h calciuria (P = 0.03), oxaluria (P = 0.02), fasting and postcalcium loading urine calcium/creatinine (Ca/cr) ratios (P = 0.008 and P = 0.002, respectively), and serum 1,25(OH)2 vitamin D levels (P = 0.02) compared with nonstone-forming sibs (n = 120). Markers from a 9-centiMorgan interval encompassing the VDD1 locus on chromosome 12q13-14 (putative 1 alpha-hydroxylase) were analyzed in 28 sibships (146 sib pairs) of single and recurrent stone formers and in 14 sibships (65 sib pairs) with recurrent-only (> or = 3 episodes) stone-forming sibs. Two-point and multipoint analyses did not reveal excess in alleles shared among affected sibs at the VDD1 locus. Linkage of stone formation to the VDD1 locus could be excluded, respectively, with a lambda d of 2.0 (single and recurrent stone formers) and 3.25 (recurrent stone formers). Quantitative trait analyses revealed no evidence for linkage to 24-h calciuria and oxaluria, serum 1,25(OH)2 vitamin D levels, and Ca/cr ratios. This study shows absence of linkage of the putative 1 alpha-hydroxylase locus to calcium stone formation or to quantitative traits associated with idiopathic hypercalciuria. In addition, there is coaggregation of calciuric and oxaluric phenotypes with stone formation.
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PMID:The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families. 951 4

It has been shown that an acute infusion of dipyridamole increased renal phosphate reabsorption in rats and humans. A prospective study was performed to determine whether chronic treatment by dipyridamole given orally could decrease renal phosphate leak and increase serum phosphorus in patients with idiopathic low renal phosphate threshold (TmPO4/GFR < 0.77 mM). Sixty-four patients with low TmPO4/GFR were included and treated with dipyridamole (75 mg, 4 times daily) for more than 12 mo. Serum phosphorus, TmPO4/GFR, parathyroid hormone, serum calcium, and 1,25-dihydroxyvitamin D were measured sequentially before treatment, and after 3, 6 to 9, and 12 mo of treatment. Under chronic treatment with dipyridamole, TmPO4/GFR and serum phosphorus significantly increased in 80% of patients within 3 mo, with maximal values reached within 9 mo. This improvement persisted after 12 mo of treatment. In 28 patients, 1,25-dihydroxyvitamin D concentrations were above the normal range (> 42 pg/ml) and normalized in parallel with the increase of serum phosphorus. The 24-h calcium excretion (which was initially increased in patients with high vitamin D concentrations) and urolithiasis decreased under treatment. Ionized serum calcium and parathyroid hormone remained unchanged. After 2 yr, treatment was discontinued in three patients; serum phosphorus and TmPO4/GFR decreased within 1 mo after discontinuation. Dipyridamole at a dose of 75 mg 4 times daily increases low TmPO4/GFR and improves hypophosphatemia in patients with renal phosphate losses and can be used to treat these patients.
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PMID:Dipyridamole decreases renal phosphate leak and augments serum phosphorus in patients with low renal phosphate threshold. 964 37

The case study presented here illustrates the diagnosis and management of calcium oxalate urolithiasis in a Bichon Frise, a breed at increased risk for this type of stone. If the Bichon Frise had persistent hypercalcemia, we would have evaluated serum concentrations of ionized calcium, parathyroid hormone, and vitamin D to identify an underlying cause. Because his urine was alkaline, additional potassium citrate was not provided. Likewise, as a fortified diet was fed to him, vitamin B6 therapy was not considered. This case study illustrates the benefits of radiographic evaluation immediately following surgery and during follow-up examinations. If we had postponed radiographs until the patient developed clinical signs, additional surgical procedures may have been required.
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PMID:Canine calcium oxalate urolithiasis. Case-based applications of therapeutic principles. 1002 55

Baseline renal function data was collected during 24-hr periods of feeding and fasting from three male and three female adult Asian small-clawed otters (Aonyx cinerea) with calcium oxalate urolithiasis. Urine was analyzed for calcium, phosphorus, and oxalate, and urinalyses were performed. There was no evidence of glucosuria, which has been previously reported in Asian small-clawed otters with urolithiasis. Urinary oxalate levels were quite high when compared with those of dogs and humans without uroliths, and the ratio of urinary oxalate to calcium was close to 1:1 during periods of food consumption. There was no significant difference in urinary oxalate excretion between the fed and fasting states. Urinary calcium excretion was five times greater during feeding than during fasting. Calcium levels were higher in the otters than those reported for dogs without uroliths but were similar to those for normal humans. Water consumption and urine production were significantly higher during periods of food consumption. Serum chemistry analyses and electrolyte levels were also determined. There was no evidence of hypercalcemia. Fractional clearance of calcium and phosphorus and endogenous creatinine clearance were significantly higher during food consumption than during fasting. Parathyroid hormone levels were similar to those reported for dogs and cats. Serum 25-hydroxy-vitamin D was slightly lower in the otters than in dogs.
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PMID:Evaluation of urinary and serum metabolites in Asian small-clawed otters (Aonyx cinerea) with calcium oxalate urolithiasis. 1036 44

Drug-induced urolithiasis are observed in 1.6% of the urinary calculi in France. Drugs crystals are identified in two thirds of these stones. Other drugs are responsible for stones which have an apparent metabolic origin (one third of the cases). Stone analysis using physical methods such as infrared spectroscopy is needed to unambiguously identify stones containing drugs. The inquiry is an important step to identify lithogenetic drugs which do not crystallize in the stones. The main substances which were identified in stones over the past decade were indinavir monohydrate (31.4%), triamterene (11.1%), sulphonamides (10.5%) and amorphous silica (4.5%). The main drugs involved in the nucleation and growth of metabolic stones were calcium and vitamin D supplementation (15%) and long-term treatment with carbonic anhydrase inhibitors (8%). Stone prevention is based on drug withdrawal or change in dosage with additional measures including an increase of diuresis and, if necessary, changes in the urine pH.
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PMID:[Drug-induced urinary calculi in 1999]. 1065 46

Various endo- and exogenous factors play a role in the urinary stones formation tract. The aim of the study was to define the type and frequency of hyperexcretion of lithogenic substances in school children population and to determine an influence of risk factors on hyperexcretion of crystallizing substances. The study included 220 school children. Preurolithiasis state (PS) was found in 30% children. The most frequently hyperoxaluria, hyperuricosuria and hypercalciuria were diagnosed and it may be connected with abnormal nutritional habits, excessive application of multivitamins, vitamin D and calcium, disturbances in drinking water chemical composition (higher amount of calcium, smaller amount of magnesium, abnormal pH). Urinary tract infections, particularly in children with obstructive uropathy are an important risk factor in the examined population. Positive familial history of urolithiasis in 43.3% children may indicate for the important role of the genetic factor in the pathogenesis of the disease.
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PMID:[The role of environmental factors in the formation of kidney calculi]. 1089 97

Analysis of 22,510 urinary calculi between January 1991 to July 2000 performed by infrared spectroscopy allows for separation of drug-induced urolithiasis into two categories: first, the drugs physically embedded in the stone (n = 238; 1.0 per cent), notably indinavir monohydrate (n = 126; 52.9 per cent), followed by triamterene (n = 43; 18.1 per cent), sulphonamides (n = 29; 12.2 per cent) and amorphous silica (n = 24; 10.1 per cent); second, the category of metabolic nephrolithiasis induced by drugs (n = 140; 0.6 per cent), involving mainly calcium and vitamin D supplementation (n = 56; 40.0 per cent) and carbonic anhydrase inhibitors (n = 33; 23.6 per cent). Composition of the stone depended not only on the inducer drug but also on the metabolic state of the patient. Today, drug-induced stones comprise about 1.6 per cent of all calculi in France. Physical analysis and therapeutic history recall of such patients are the keys to diagnosis. Medical care is based on drug avoidance or dose adjustment with increased diuresis and, if necessary, change in urinary pH.
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PMID:[Urinary lithiasis of medical origin]. 1187 1

We report a case of urolithiasis in a patient with idiopathic hypoparathyroidism treated with vitamin D therapy. A 30-year-old woman with idiopathic hypoparathyroidism, who had been treated with vitamin D therapy with 2-4 micrograms/day of alpha-calcidol for 9 years, was admitted for recurrence of bilateral renal stones and progressing left hydronephrosis. Laboratory data revealed normal serum calcium level and remarkable hypercalciuria. The dose of oral administration of alpha-calcidol was reduced to 1 microgram/day and 2 mg/day of trichlormethiazide was started. Now her serum calcium concentration and the total amount of urine calcium was completely under control. Bilateral renal stones are no longer progressive and tetany has not been recognized. We considered it essential to monitor closely not only the serum but also the urine calcium level in the vitamin D therapy for idiopathic hypoparathyroidism.
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PMID:[A case of urolithiasis due to vitamin D intoxication in a patient with idiopathic hypoparathyroidism]. 1204 37

Drug-induced calculi represent 1-2% of all renal calculi. The drugs reported to produce calculi formation may be divided into two groups. The first one includes poorly soluble drugs with high urine excretion that favours crystallisation in the urine. Among poorly soluble molecules, triamterene was the leading cause of drug-containing urinary calculi in the 1970s, and it is still currently responsible for a significant number of calculi. In the last decade, drugs used for the treatment of HIV-infected patients, namely indinavir and sulfadiazine, have become the most frequent cause of drug-containing urinary calculi. Besides these drugs, about twenty other molecules may induce nephrolithiasis in patients receiving long-term treatment or high doses. Calculi analysis by physical methods, including infrared spectroscopy or x-ray diffraction, is needed to demonstrate the presence of the drug or its metabolites within the calculi. The second group includes drugs that provoke urinary calculi as a consequence of their metabolic effects. Here, diagnosis relies on careful clinical inquiry because physical methods are ineffective to differentiate between urinary calculi induced by the metabolic effects of a drug and common metabolic calculi. The incidence of such calculi, especially those resulting from calcium/vitamin D supplementation, is probably underestimated. Although drug-induced urinary calculi most often complicate high-dose, long-duration drug treatments, there also exist specific patient risk factors in relation to urine pH, urine output and other parameters, which provide a basis for preventive or curative treatment of calculi. Better awareness of the possible occurrence of lithogenic complications, preventive measures based on drug solubility characteristics and close surveillance of patients on long-term treatment with drugs with lithogenic potential, especially those with a history of urolithiasis, should reduce the incidence of drug-induced nephrolithiasis.
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PMID:Drug-induced renal calculi: epidemiology, prevention and management. 1487 Nov 69


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