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)

Inherited adenine phosphoribosyltransferase (APRT) has a recessive transmission. When it is very important, adenine can't be restored into nucleic acids pool and will changed into 2,8-dihydroxyadenine (2,8-DHA) by xanthine oxidase. To date in all countries but Japan, 2,8-DHA urolithiasis is observed only into homozygotic subjects with complete APRT deficiency Commonly, its onset is observed in childhood often dramatically. The authors report two new pediatric cases into new french families. First a 8 years old boy with spontaneous elimination of two lithiasis after right lumbar pain. Secondly an infant (nineteen months) who has presented an acute renal failure with anuria. Bilateral lithiasis included into pyelourectal junctions have been pulled out by bilateral surgical pyelotomy. In each case, lithiasis were radiolucent and diagnosis made by ultrasonography. The uric acid metabolism was normal and it is the infra red spectrophotometric study of stones that had recognised the 2,8-DHA component. In the second case, bilateral residual lithiasis have been broken by piezoelectric extra-corporeal lithotripsy with good tolerance and favorable result. The two children received preventive treatment. After 36 and 19 months they have no recurrence. In the literature, the frequency of 2,8-DHA lithiasis is very more low than the theoretical of homozygotics in population (1/100,000). The common confusion with uric lithiasis is one possible explanation. So spectrophotometric study of radiolucent stones was meant to be realised when uric metabolism is not disturbed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]. 238

Inherited adenine phosphoribosyltransferase (APRT) has a recessive transmission. When it is very important, adenine can't be restored into nucleic acids pool and will changed into 2,8-dihydroxyadenine (2,8-DHA) by xanthine oxydase. To date in all countries but Japan, 2,8-DHA urolithiasis is observed only into homozygotic subjects with complete APRT deficiency. Commonly, its onset is observed in childhood often dramatically. The authors report two new pediatric cases in two new french families. First a 8 year old boy with spontaneous elimination of two lithiasis after right lumbar pain. Secondly an infant (nineteen months) who has presented an acute renal failure with anuria. Bilateral lithiasis incluted into pyeloureteral junctions have been pulled out by bilateral surgical pyelotomy. In each case, lithiasis were radioluscent and diagnosis made by ultrasonography. The uric acid metabolism was normal and it is the infra red spectrophotometric study of stones that had recogniseed the 2,8-DHA component. In the second case, bilateral residual lithiasis have been broken by piezoelectric extracorporeal lithotrypsy with good tolerance and favorable result. The two children received permanent preventive treatment. After 36 and 19 months they have no recurrence. In the literature, the frequency of 2,8-DHA lithiasis is very more low than the theorical incidence of homozygotics in population (1/100,000). The common confusion with uric lithiasis is one possible explanation. So spectorophotometric study of radioluscent stones was meant to be realised when uric metabolism is not disturbed. Prevention associates alimentary diet without purins and permanent treatment by allopurinol (10 mg/kg/day in a child). Not used to date, piezo-electric extracorporeal lithotrypsy seems to take a place for treatment of initial, residual or recurrent 2,8-DHA lithiasis like for our young patient.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]. 269 87

Ureteral calculi were found in 5 children who were receiving or had recently completed remission induction therapy for acute leukemia or lymphoma. All 5 patients had abdominal or back pain and 3 had gross hematuria. The diagnosis of urolithiasis was suggested by excretory urograms that showed obstructive uropathy (4 patients) and by computerized tomography scans that demonstrated ureterovesical obstruction (1 patient with acute renal failure and anuria). With a single exception the calculi were not associated with urinary tract infections. Chemical analyses in the 2 patients tested indicated that the stones were composed of calcium, in contrast to the uric acid and xanthine compositions of stones in earlier studies of patients with leukemia or lymphoma. Factors that might have predisposed our patients to calculi formation include corticosteroid therapy, immobilization owing to bed rest and urinary alkalization. Other possible contributing factors were urinary stasis (2 patients) and a familial tendency for renal calculi to develop. There was no evidence of idiopathic hypercalciuria in either patient tested. Prompt detection of urolithiasis in children undergoing induction chemotherapy for a malignant disease may avoid potentially serious consequences from urinary tract obstruction.
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PMID:Urolithiasis in childhood acute leukemia and nonHodgkin's lymphoma. 346 63

The clinical course of 61 patients with post-renal acute renal failure caused by ureteral obstruction seen between January, 1976 and December, 1985, was studied retrospectively. Twenty of the patients were men between 55 and 85 years old, and 41 were women between 35 and 82 years old. In 50 of the 61 patients, uremia was caused by ureteral obstruction secondary to malignant tumors, and in 11, it was secondary to benign diseases. We divided the patients into two groups, those with primary malignant tumors and those with benign diseases. The location of the primary tumors in the malignant group was the genital system in 28 patients, upper gastrointestinal tract in 7, colorectum in 12, the urinary system in 2, and one was unclear. The benign group included 4 with urolithiasis, 3 with pelviureteral junction stenosis, 3 with post-operative ureteral stricture, and 1 with bilateral ureteral ligation due to operation error. Urinary diversion or reconstruction was performed on 56 of the 61 patients; bilateral nephrostomy in 6, unilateral nephrostomy in 16, bilateral ureterocutaneostomy in 8, unilateral ureterocutaneostomy in 11, unilateral nephrostomy with contralateral ureterocutaneostomy in 2, ureterolithotomy in 2, pyeloplasty in 2, ureterovesiconeostomy in 1, and insertion of a ureteral stent in 8. Of the remaining 4 patients 3 were treated by hemodialysis, and the other patient refused treatment. There was no significant difference in recovery of renal function between those patients undergoing only unilateral diversion and those undergoing bilateral diversion.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical studies on 61 patients with post-renal acute renal failure caused by ureteral obstruction]. 368 22

The authors report a case of acute renal failure with hyperoxaluria and intratubular deposits of oxalate crystals, following a massive ingestion of piridoxilate. Cases of calciumoxalate urolithiasis have also been reported after chronic administration of piridoxilate.
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PMID:[Acute renal failure caused by acute oxalosis after massive ingestion of pyridoxilate]. 409 37

Examination of renal function have been carried out in sheep with acute prerenal (n = 6), renal (n = 15) or postrenal failure (n = 3), pyelocystitis (n = 4), and in cases of urolithiasis in rams (n = 16) and billy goats (n = 11) respectively. The calculation of parameters was done on the basis of the estimated weight dependent endogenous creatinine excretion. A control group of 56 healthy non pregnant or early pregnant (< 120th day of pregnancy) ewes have been used. The renal creatinine clearance was reduced and the absolute as well as the fractional renal water excretion was enhanced in all groups of sick animals. An elevated fractional excretion of sodium and phosphate could be seen as well. Functional disturbances could be observed in urolithiasis in like manner as in acute renal failure. There was proteinuria, glucosuria, excessive potassium excretion and often decreased plasma concentration of potassium in both syndromes. A hyperkalemia occurred only in the final state of urolithiasis. No clinical outcome of chronic nephropathies could be seen. Mortality of the described acute nephropathies was about 76%. The results of examination were suitable to control the course and restitution of renal function. They were not helpful for differential diagnosis and prognosis of acute renal failure.
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PMID:[Clinical kidney function studies in sheep. III. Pathologic function changes in nephropathies of sheep and in urolithiasis of rams and billy goats]. 778 44

The first part of this study evaluates a new paired microinjection technique for studying single-nephron permeability (in this case to calcium) following injection of 5-10 nL of a Ringer solution into a superficial proximal tubule. The mean difference in fractional 45Ca recovery from two identical microinjections into the same nephron site was 2.2 +/- 0.2% for 89 paired microinjections. Individual nephrons therefore normally show differences in calcium permeability with time. However, moment-to-moment variations in ion transport in any one nephron are in a random direction; differences cancel one another out if enough experiments are performed. The technique thus appears well suited to studies where comparisons are made between the acute nephron responses to two test solutions. It specifically overcomes problems of nephron heterogeneity seen in some other micropuncture techniques. The second part of this study uses the new technique to investigate the effects of a raised intratubular D-glucose concentration on single-nephron calcium transport. Urinary 45Ca recoveries from late proximal microinjections were significantly higher when D- (as opposed to L-) glucose was included in the injectate (6.87 +/- 0.88 vs. 5.24 +/- 0.50%; p < .02). The ability of D-glucose to depress tubular calcium reabsorption at distal nephron sites may contribute to the observed hypercalciuria following systemic D-glucose loading. It may also be relevant to the acute renal failure accompanying renal stone disease, where a relationship between hypercalciuria, urolithiasis, and the consumption of refined carbohydrates has been proposed.
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PMID:A paired tracer microinjection technique designed for assessment of single-nephron glucose-calcium interactions in the anesthetized rat. 785 14

Renal hypouricemia (serum urate < 2.0 mg/dl) is the inborn disorder due to the impaired tubular urate transport resulted in an increased urate excretion. The inheritance shows an autosomal recessive trait. The prevalence of renal hypouricemia is 0.15% in the outpatients. Based on the 4-component model, by using the pharmacological inhibitor, renal hypouricemia is classified into the 4 types as follows, 1) defective presecretory reabsorption, 2) defective postsecretory reabsorption, 3) enhanced urate secretion, and 4) both defective presecretory and postsecretory reabsorption including the three subtypes. Although renal hypouricemia has asymptomatic as usual, acute renal failure and urolithiasis (hematuria) have been reported as the complication. We further introduced the novel pathophysiology of the renal hypouricemia such as the aciduria correlating to the accelerated urate excretion and the hyperoxipurinemia in this review.
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PMID:[Renal hypouricemia]. 897 16

The present study reports epidemiological data on renal disorders in children in Venezuela. Information was obtained from 14 centers for the period January through December 1998. A total of 3,624 patients were evaluated as either a first outpatient consultation or as a first hospital admission. Nearly 70% of the patients could be grouped in one of the following categories: (1) urinary tract infections (32%), with detection of abnormalities of the urinary tract in 25%, (2) metabolic disorders (28%), mainly idiopathic hypercalciuria and hyperuricosuria, (3) glomerulonephritis (9.5%). The other 30% corresponded to urolithiasis 7%; renal tubular acidosis 5.6%; nephrotic syndrome 4.5%; primary hematuria 4.2%; acute renal failure 2.8% (43% were secondary to acute dehydration, 15% to birth asphyxia, 14% to septicemia, and 23% to multiple factors); chronic renal failure 1.6% (secondary to glomerulopathies, predominantly focal glomerulosclerosis, structural abnormalities of the urinary tract, hereditary disorders, and renal hypoplasia/dysplasia); miscellaneous diseases 4.8%. Hence, the spectrum of renal disorders in Venezuela is wide, sharing similarities with countries of both the developed and developing world. These data will hopefully contribute to the development of national healthcare policies appropriate to the epidemiology of the country.
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PMID:Renal diseases in children in Venezuela, South America. 1217 77

Familial renal hypouricemia with exercise-induced acute renal failure (ARF) is rare. A 45-year-old man presented with abdominal pain, vomiting, and oliguria after severe exercise. The diagnosis was ARF based on high serum creatinine (SCr) level (5.1 mg/dL [451 micromol/L]). Renal function recovered completely within 2 weeks of conservative treatment (creatinine clearance [Ccr], 100.4 mL/min [1.67 mL/s]). After remission, laboratory results showed serum urate (SUA) of 0.8 mg/dL (48 micromol/L), and fractional excretion of uric acid (FE(UA)) of 46%. The final diagnosis was ARF associated with idiopathic renal hypouricemia. Other diseases that could increase the excretion of urate were excluded. Because only mild responses were observed both in pyradinamide and benzbromarone loading tests, he was considered to be a presecretory reabsorption disorder type. The younger brother (42 years old) also had episodes of low and middle back pain after severe exercise and experienced similar attacks at least 5 times since the age of 29. SCr level was elevated in every attack. Hypouricemia (SUA, 1.0 mg/dL [59 micromol/L]) and high urinary urate excretion (FE(UA), 65.7%) also were detected. Renal function recovered almost completely without any specific treatment. Radiologic examination of the 2 cases showed bilateral urolithiasis probably caused by the high urinary urate excretion. Sequence analysis of a urate anion exchanger known to regulate blood urate level (URAT1 gene) in both brothers showed homozygous mutation in exon 4 (W258Stop), resulting in a premature truncated URAT1 protein. Both their parents and their children showed heterozygous mutation of the URAT1 gene. This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1).
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PMID:Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. 1465 3


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