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)

Three patients with hereditary xanthinuria are presented and the pertinent literature is reviewed. In two siblings the disease has been asymptomatic; in the third urolithiasis has developed. Xanthine stone formation is the clinical hallmark of the disease. Hereditary xanthinuria seems to be relatively prevalent in Lebanon.
Nephron 1977
PMID:Hereditary xanthinuria: report on three patients and short review of the literature. 92 25

To better define the relative role of metabolic factors in the recurrence of stone formation, we studied the 24-hour urinary excretion of calcium (uCa), citrate (uCit), oxalic acid (uOx) and uric acid (uUa) in 73 male patients with primary calcium oxalate urolithiasis. According to the episodes of stone formation per year, we identified 51 recurrent stone formers (RSF) and 22 single stone formers (SSF). 20 normal adult males constituted the control group (C). uCa and uOx were higher in RSF than in C, but quite similar in SSF and RSF. The only difference between RSF and SSF was uCit, significantly lower (2.06 +/- 1.04 mmol/24 h) in RSF than in SSF (3.22 +/- 1.18 mmol/24 h, p less than 0.001) and in C (3.42 +/- 1.33 mmol/24 h, p less than 0.001). Hypocitraturia (uCit less than 1.5 mmol/24 h) was found in 16 of 51 RSF (31.4%) and in 1 of 22 SSF (4.5%). These data confirm that high levels of uCa and uOx represent a risk factor for lithogenesis, but also strongly indicate the low uCit excretion as the most important urinary abnormality accounting for the recurrence of calcium oxalate stones.
Nephron 1992
PMID:Low urine citrate excretion as main risk factor for recurrent calcium oxalate nephrolithiasis in males. 152 45

Formation of agglomerates of calcium oxalate monohydrate (COM) crystals on semi-batch precipitation performed at conditions relevant to urolithiasis (37 degrees C, pH = 6, initial ratio [Ca]/[Ox] = 10), but without any specific admixture, was followed by both optical and electron microscopy. COM crystals formed on precipitation developed into large agglomerates consisting of intergrown crystals by a mechanism of primary agglomeration. Primary agglomeration of COM crystals represents an important mechanism of COM renal calculi growth.
Nephron 1992
PMID:Role of agglomeration in calcium oxalate monohydrate urolith development. 163 May 37

Outpatient renal stone formers belonging to the established urolithiasis subgroups and controls were examined with respect to urinary and serum citrate (Cit) and several associated variables. Only in the normocalciuric majority of calcium and in uric acid stone formers was Cit in 24-hour urine decreased, but was normal in 2-hour fasting morning, and in 3-hour postprandial urine following a Cit-free test meal. Serum Cit was elevated in normocalciuria, renal and resorptive hypercalciuria. This Cit constellation was associated with either normal (absorptive, renal hypercalciuria) or low (normocalciuria, uric acid stone formers) parathyroid gland function as assessed by serum parathyroid hormone and nephrogenous urinary cyclic AMP, except in patients with primary hyperparathyroidism. In 2-hour morning urine the magnesium/creatinine ratio (normocalciuria) and ammonia excretion (uric acid stone formers) were decreased, while ammonia in 24-hour urine was low in all stone formers. It is suggested that Cit metabolism is altered in renal stone disease in general, and that in normocalciuria, stone inhibitors (Cit; magnesium) may be deficient.
Nephron 1982
PMID:Citrate in urine and serum and associated variables in subgroups of urolithiasis. Results from an outpatient stone clinic. 712 65

We encountered a case of hypouricemia with increases both in urate clearance (Cur) and in the ratio of Cur to creatinine clearance (Cur/Ccr), the normal daily urinary excretion of urate, and urolithiasis. Pyrazinamide markedly decreased Cur and Cur/Ccr, and both probenecid and benzbromarone markedly increased Cur and Cur/Ccr, however, benzbromarone did not increase either Cur or Cur/Ccr under pretreatment with pyrazinamide in the patient. Thus, the diagnosis was made of renal hypouricemia due to enhanced tubular secretion of urate. The urinary pH of the patient tended to be acidic. Three months after the start of alkalization of the patient's urine by K+, Na(+)-citrate, both urolithiasis and the symptoms related to urolithiasis disappeared. These results suggest that renal hypouricemia due to enhanced tubular secretion of urate can result in urolithiasis and the alkalization of urine may be an effective treatment for uric acid stones.
Nephron 1993
PMID:Renal hypouricemia due to enhanced tubular secretion of urate associated with urolithiasis: successful treatment of urolithiasis by alkalization of urine K+, Na(+)-citrate. 830 13

Hypercalciuria in the absence of urolithiasis has been considered to be a cause of asymptomatic hematuria. No mechanism for this association has been demonstrated. In an effort to establish the specificity of this association, we induced hypercalciuria in 10 healthy subjects by oral administration of 1,25(OH)2 vitamin D for 10 days. This protocol reproducibly produced markedly increased urinary calcium excretion (mean calcium:creatinine ratio 0.5). Despite this, no subject developed hematuria as seen by dipstick urinalysis or by alteration in erythrocyte Addis counts (mean counts 1.02 x 10(6)/12 h before vitamin D and 0.84 x 10(6)/12 h after 10 days of therapy). This study provides no evidence that short-term hypercalciuria alone produces hematuria in otherwise healthy individuals.
Nephron 1996
PMID:Short-term experimental hypercalciuria does not produce hematuria in normal subjects. 877 38

The prevalence of arterial hypertension (HT) was investigated in 258 patients (171 m, 87 f, 22-68 years) with a history of primary stone disease. HT was detected in 64 patients (24.8%), with no difference between males (25.7%) and females (23.0%). The prevalence of HT by age was very similar to that of a general population, especially in the calcium stone group. The discriminant analysis demonstrated that the composition of stones, other than the age and body weight of the patients, were the main factors associated with HT. As far as the different kind of stone is concerned, the prevalence of HT was higher in patients with uric acid (17/37, 45.9%) and struvite stones (11/27, 40.7%) than in calcium stone formers (35/188, 18.6%) (chi 2 16.31, p < 0.001). The prevalence of hypercalciuria was higher in the calcium stone group than in uric acid or struvite stone patients (36.4 vs. 9.7 vs. 13.7%; chi 2 10.35, p < 0.01). Furthermore, the hypercalciuria showed a trend to be more prevalent in the untreated (47.0%) than in the treated (31.2%) hypertensives, or normotensives (35.1%). Uric acid stone formers were older, heavier and with higher triglycerides and uric acid plasma levels than calcium or struvite patients. Also the struvite stone formers were older than the calcium stone ones. Our data suggest that the prevalence of HT in kidney stone patients and particularly in calcium stone formers is similar to that of a general population. The role of hypercalciuria as the link for HT-urolithiasis association seems quite uncertain. Struvite and uric acid stone formers have higher risk for HT than calcium stone formers, probably due to the old age or to the associated metabolic abnormalities.
Nephron 1996
PMID:Hypertension in kidney stone patients. 885 53

Two unrelated patients of Pakistani origin presented with primary hyperoxaluria type 1 (PH1) at 4 months and 3 years of age, respectively. While the younger patient failed to thrive and suffered from early renal failure, the older one showed a relatively benign history with urolithiasis as the main feature of the disease. In both patients the diagnosis was confirmed by assessment of alanine:glyoxylate aminotransferase catalytic and immunoreactivity in liver biopsy specimens. The underlying genetic defect was found to be a combined deletion and insertion in exon 8 which alters the reading frame of the protein. The nucleotide change introduces a Stu1 restriction site which facilitated typing of additional family members. Both patients and a further affected brother were homozygous for this mutation, while their parents were heterozygous for it. This mutation is the first deletion/insertion identified in PH1. Although rare in our PH1 patient cohort (2.5% of alleles), the finding of 2 homozygous apparently unrelated individuals of the same ethnic origin suggests that it may prove worthwhile to screen other Asian patients for this mutation. These PH1 cases present further evidence that factors other than genotype contribute significantly to the clinical presentation and severity of PH1.
Nephron 1998
PMID:Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene. 957 76

We investigated the in vitro effect of an aqueous extract of Phyllanthus niruri L. on a model of CaOx crystal endocytosis by Madin-Darby canine kidney cells. The extract exhibited a potent and effective non-concentration-dependent inhibitory effect on the CaOx crystal internalization. This response was present even at very high (pathologic) CaOx concentrations and no P. niruri L.-induced toxic effect could be detected. Biochemical analysis of culture media containing P. niruri L. did not provide any clues for the elucidation of the cellular pathways affected by this natural product. Although further studies are necessary for a better understanding of the role of P. niruri L. in urolithiasis, our findings show that this natural product could be an attractive alternative for the treatment of urinary stones.
Nephron 1999
PMID:Phyllanthus niruri inhibits calcium oxalate endocytosis by renal tubular cells: its role in urolithiasis. 1009 74

A 72-year-old non-diabetic uremic woman underwent right nephrectomy for urolithiasis at the age of 50. Because pyuria, fever, chilliness and left flank pain developed during preparing for arteriovenous fistula, she was admitted to National Cheng Kung University Hospital. Renal cell carcinoma (RCC) complicated with emphysematous pyelonephritis (EPN) was diagnosed and immediately treated with antibiotics and CT-guided percutaneous catheter drainage. Cultures of pus and blood yielded Escherichia coli. She received left radical nephrectomy later for the control of persistent sepsis and removal of left renal tumor. The pathology of the tumor was composed of a glandular arrangement of granular cells with the occasional atypism, and renal parenchyma had been totally replaced by RCC. The non-tumor part of the kidney showed chronic pyelonephritis. Five months later, multiple metastases developed. We reported this first uremic case with EPN and RCC, but without diabetes mellitus and urinary tract obstruction. The gas formation may be due to large RCC, which caused impaired tissue perfusion and E. coli infection.
Nephron 2002 Sep
PMID:Renal cell carcinoma complicated by emphysematous pyelonephritis in a non-diabetic patient with renal failure. 1218 10


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