Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020500 (hyperoxaluria)
912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 19 patients with active nephrolithiasis, 14 patients with non-active nephrolithiasis and 17 healthy subjects were examined under standardized intake of calcium, phosphorus, purine and protein. In patients with both active and non-active renal stone disease the following abnormalities were found: elevated plasma levels of PTH and osteocalcin, increased activity of the bone isozyme of alkaline phosphatase, low plasma levels of phosphate and increased urinary excretion of calcium and oxalic acid. These abnormalities were more marked in patients with active than non-active nephrolithiasis. No correlation was found between plasma PTH levels and parameters of bone turnover as well as calciuria and oxaluria. Results presented in this paper suggest that (a) Smith's criteria of active renal stone disease are of minor pathogenetic and therapeutic value and (b) patients with active nephrolithiasis differ from non-active renal stone formers by more elevated oxaluria and markers of bone turnover and more marked abnormalities in calcium-phosphate metabolism related parameters.
...
PMID:Markers of bone turnover in patients with nephrolithiasis. 941 56

Homeostasis of oxalic acid appears to be regulated, in part, by the gut-associated bacterium Oxalobacter formigenes. The loss of this bacterium from the gut flora is associated with an increased susceptibility to hyperoxaluria, a condition which can lead to the formation of calcium oxalate crystalluria and kidney stones. In order to identify and quantify the presence of O. formigenes in clinical specimens, a quantitative-PCR-based assay system utilizing a competitive DNA template as an internal standard was developed. This quantitative competitive-template PCR test allows for the rapid, highly specific, and reproducible quantification of O. formigenes in fecal samples and provides a prototype for development of DNA-based quantitative assays for enteric bacteria.
...
PMID:Direct quantification of the enteric bacterium Oxalobacter formigenes in human fecal samples by quantitative competitive-template PCR. 1020 13

Background: Oxalobacter formigenes is a recently discovered anaerobic bacterium residing in the gastrointestinal tracts of most vertebrates, including humans. Evidence suggests that this bacterium plays an important symbiotic relationship with its hosts by regulating oxalic acid homeostasis. Oxalic acid is a ubiquitous toxic by-product of metabolism associated with numerous pathologic conditions, including hyperoxaluia, cardiac myopathy and conductance disorders, kidney stones, and even death. Despite the potential importance of O. formigenes in several major health disorders, the difficulty in culturing, isolating, and identifying this fastidious anaerobe has limited research of its disease associations. Because O. formigenes must use two unique enzymes to catabolize oxalic acid, this bacterium appeared to be a suitable model for DNA-based identification, thereby circumventing the labor-intensive procedures currently used. Methods and Results: In this study, genus- and group-specific oligonucleotide sequences were designed corresponding to homologous regions residing in the oxc gene that enodes for oxalyl-coenzyme A decarboxylase. A polymerase chain reaction (PCR)-based amplification of the 5'end of this gene directly from genomic DNA isolated from various strains of O. formigenes was used to show that the genus- and group-specific oligonucleotide probes could identify and subgroup the bacterium. Field testing of this PCR-based detection system with 100 fecal cultures collected from children aged 0-12 years demonstrated the ease and efficacy with which O. formigenes can now be identified. Furthermore, these latter data provide a profile for the natural colonization of a human population with this intestinal bacterium. Conclusions: Development and use of this PCR-based detection system permit the rapid identification and classification of the gut-associated bacterium O. formigenes, thereby circumventing the need for the more labor-intensive and lengthy method currently used. The first field test of this detection system indicates that humans apparently do not become colonized with O. formigenes until they begin crawling about in the environment. Furthermore, studies investigating the association between several disorders (eg, kidney stones, irritable bowel syndrome, and hyperoxaluria) and the absence of the bacterium from the gut will now prove far easier.
...
PMID:Evaluating Children in the Ukraine for Colonization With the Intestinal Bacterium Oxalobacter formigenes, Using a Polymerase Chain Reaction-based Detection System. 1046 96

In up to one-third of patients with calcium oxalate stones, a hyperoxaluria can be detected. Hyperoxaluria can result from increased endogenous production, from excessive oxalate content of the food, or from intestinal hyperabsorption. For a causal therapy, it is important to discriminate between metabolic and hyperabsorptive hyperoxaluria. Our new 13C-oxalate test allows this differentiation. Under standardized conditions, 50 mg of disodium salt of [13C2]oxalic acid was applied. From the amount of labeled oxalate excreted in urine as measured by a gas chromatographic-mass spectrometric assay, the intestinal absorption was calculated. Seventy patients with recurrent calcium oxalate urolithiasis who had no signs of inflammatory bowel disease were tested. Their mean intestinal oxalate absorption was 9.2+/-5.1%. This was significantly higher than the mean absorption of 50 healthy volunteers (6.7+/-3.9%). There was no difference in oxalate absorption between male (n = 25) and female volunteers. Oxalate absorption correlated with the oxalate excretion in the 24-h urine (volunteers: r = 0.46, P < 0.01; patients: r = 0.62, P < 0.001). Oxalate hyperabsorption was defined as an absorption exceeding 10%. According to this definition, 34% of the patients had oxalate hyperabsorption; 20% of the volunteers showed a hyperabsorption, too. The 13C-oxalate absorption test allows reliable determination of intestinal oxalate absorption. Because of the use of a stable isotope, this test may be repeated as often as required. It will allow the control of therapeutic regimens and also help to unravel genetic influences in stone formation.
...
PMID:Intestinal hyperabsorption of oxalate in calcium oxalate stone formers: application of a new test with [13C2]oxalate. 1054 Dec 57

Hyperoxaluria is the most important risk factor for a formation of calcium oxalate-urinary stones. Usually, the bulk of oxalate will be formed in the human body, but in many patients the oxalate from food plays the decisive role. Conventionally, in urine the endogenous oxalate can not be distinguished from food derived oxalate. We have developed a standardized oxalate-absorption test, applying a physiological dose (50 mg disodium salt of [13C2]oxalic acid) of labelled oxalate. The assay has been published. Now we report on the first extensive applications of this test in 86 volunteers and 135 patients from different groups with calcium oxalate stones or an increased risk of the formation of such stones. In one-third of the patients with calcium oxalate-urinary stones an oxalate hyperabsorption was diagnosed. For these patients, a dietetic stone prophylaxis and/or therapy is indicated.
...
PMID:Experience with the [13C2]oxalate absorption test. 1102 22

A 37-year-old patient underwent two successive renal transplantations 7 months apart. He remained dialysis dependent. Early biopsy of both grafts revealed widespread calcium oxalate deposition suggestive of acute oxalate nephropathy. Several causes of oxalate nephropathy, including primary oxalosis and an increased intake of oxalic acid precursors, were excluded. Two years later, the identification of steatorrhea with radiologic signs of chronic pancreatitis led to the hypothesis of enteric hyperoxaluria. Surprisingly, 11 months after the second transplantation, graft function improved progressively allowing interruption of dialysis. Three years later, renal function is stable. The causes and prevention of acute oxalate-induced graft failure are highlighted. Subclinical evidence of enteric hyperoxaluria should be looked for and appropriate therapy instituted as early as possible. The possibility of a late recovery of renal function warrants attentive patience from attending physicians.
...
PMID:Enteric hyperoxaluria: a hidden cause of early renal graft failure in two successive transplants: spontaneous late graft recovery. 1208 89

An early diagnostics of metabolism disorders by using different methods is still acute. In this respect, the crytstal-optic examination of the metabolism structures of blood serum, implemented in a polarized light (microscope MIN-8) is in the focus of attention. We studied the structure of blood serum of 160 patients with various metabolic disorders. The examinations were made through drying up, under control, the blood serum drops between two isotropic plates, the mentioned preparations were subsequently kept in the open air and examined under the microscope in polarized light. Simultaneously, the below substances were identified in the blood serum: oxalic acid, creatinines, total calcium, glycine, uric acid and cholesterol. In accordance with metabolic disorders, crystals were isolated, which characterize a type of a metabolic disorder. Thus, the fan-type dendrites are indicative of hyperoxaluria, druses and dendrite-like spherulites--hypercreatinemia; oolite spherulities are indicative of hypercalcemia, fine-grained particles are typical for hyperglycinemia, feather-like rays are typical for hyperuricemia and cross-like spherulites are typical of hypercholesterolemia. The suggested method improves the control over a type of metabolic disorder, and it can be used in the express diagnostics of a pre-pathology and pathology of metabolism.
...
PMID:[Polarization microscopy in diagnosis of metabolic disorders]. 1271 90

Of decisive importance for the many research groups all over Europe were the scientific symposia dealing with the theoretical foundations and clinical aspects of urinary stone disease. There were several sources from which today's European Urinary Stone meetings and the "Eurolithiasis Society" itself arose. It was a long way from Leeds in 1968 to Jena 1970, Bonn-Vienna in 1972 and to 11 European meetings from 1989 to 2005. Which developments in urinary stone disease research have been presented at our congresses during the past 40 years? The 1970s and 1980s are the years marked by efforts to measure the important lithogenic substances such as calcium, ionized calcium, uric acid, phosphate, oxalate with reliable methods. Hypercalciuria and specifically mild hyperoxaluria were the topics of numerous investigations in the 1970s, 1980s and 1990s. The calcium-loading test described by Pak has been discussed frequently since its application. It became apparent that oxalic acid is more important in urinary stone formation than hypercalciuria. Of importance were investigations done by Robertson and his colleagues on the influence of diet (in particular, an animal protein-rich diet) on urinary stone formation. Another emphasis of research was investigation of the crystallization process: supersaturation, crystal growth and aggregation are important steps in urinary stone formation. Of great importance in the formation of urinary stones are inhibitors (inhibitory activity): citrate, magnesium, pyrophosphate, macromolecules: GAGs, THP etc. and it became possible in the early 1970s to determine substances such as Tamm-Horsfall protein (THP) and GAGs. Much attention in the 1970s and 1980s was focused on urinary stone analysis (X-ray diffraction, infrared spectroscopy, polarization microscopy) and standardization of these methods. In the mid-1980s, a whole series of epidemiological studies were carried out, with data for the Federal Republic of Germany, East Germany, Czechoslovakia and Austria. The search for "stone-removing" medications, their description and clinical use was the subject of much clinical research and in vitro examinations. A definite advance occurred in the 1980s with the development of new instrumental technologies for the management of urinary stones such as shockwave ("Stosswelle") lithotripsy, percutaneous nephrolithotomy and ureterorenoscopy (" breakthrough innovations"). Since the 8th European Urolithiasis Symposium there have regularly been presentations pertaining to the topic of the molecular basis of inherited lithiasis. The last 10-15 years have shown an increasing turning toward the importance of cellular alterations and supersaturation and their relation to stone formation. In conclusion, I would like to note that it is of decisive importance for the research groups all over Europe to organize scientific symposia dealing with the theoretical foundations and clinical aspects of urinary stone disease under the protection of the European Urolithiasis Society.
...
PMID:Thirty-eight years of stone meetings in Europe. 1650 36

Oxalic acid is found in dietary sources (such as coffee, tea, and chocolate) or is produced by the intestinal microflora from metabolic precursors, like ascorbic acid. In the human intestine, oxalate may combine with calcium, sodium, magnesium, or potassium to form less soluble salts, which can cause pathological disorders such as hyperoxaluria, urolithiasis, and renal failure in humans. In this study, an operon containing genes homologous to a formyl coenzyme A transferase gene (frc) and an oxalyl coenzyme A decarboxylase gene (oxc) was identified in the genome of the probiotic bacterium Lactobacillus acidophilus. Physiological analysis of a mutant harboring a deleted version of the frc gene confirmed that frc expression specifically improves survival in the presence of oxalic acid at pH 3.5 compared with the survival of the wild-type strain. Moreover, the frc mutant was unable to degrade oxalate. These genes, which have not previously been described in lactobacilli, appear to be responsible for oxalate degradation in this organism. Transcriptional analysis using cDNA microarrays and reverse transcription-quantitative PCR revealed that mildly acidic conditions were a prerequisite for frc and oxc transcription. As a consequence, oxalate-dependent induction of these genes occurred only in cells first adapted to subinhibitory concentrations of oxalate and then exposed to pH 5.5. Where genome information was available, other lactic acid bacteria were screened for frc and oxc genes. With the exception of Lactobacillus gasseri and Bifidobacterium lactis, none of the other strains harbored genes for oxalate utilization.
...
PMID:Transcriptional and functional analysis of oxalyl-coenzyme A (CoA) decarboxylase and formyl-CoA transferase genes from Lactobacillus acidophilus. 1651 36

Although urolithiasis is common in spinal cord injury patients, it is presumed that the predisposing factors for urinary stones in spinal cord injury patients are immobilization-induced hypercalciuria in the initial period after spinal injury and, in later stages, urine infection by urease-producing micro-organisms, e.g., Proteus sp., which cause struvite stones. We describe a patient who sustained C-7 complete tetraplegia in a road traffic accident in 1970, when he was 16 years old. Left ureterolithotomy was performed in 1971 followed by left nephrectomy in 1972. Probably due to adhesions, this patient developed volvulus of the intestine in 1974. As he had complete tetraplegia, he did not feel pain in the abdomen and there was a delay in the diagnosis of volvulus, which led to ischemia of a large segment of the small bowel. All but 1 ft of jejunum and 1 ft of ileum were resected leaving the large bowel intact. In 1998, suprapubic cystostomy was performed. In 2004, this patient developed calculus in the solitary right kidney. Complete stone clearance was achieved by extracorporeal shock wave lithotripsy. Stone analysis: calcium oxalate 60% and calcium phosphate 40%. Metabolic evaluation revealed hyperoxaluria, hypocitraturia, and hypomagnesiuria. Since this patient had hyperoxaluria, the stool was tested for Oxalobacter formigenes, a specific oxalate-degrading, anerobic bacterium inhabiting the gastrointestinal tracts of humans; absence of this bacterium appears to be a risk factor for development of hyperoxaluria and, subsequently, calcium oxalate kidney stone disease. DNA from the stool was extracted using the QIAamp DNA stool Mini Kit (Qiagen, Chatsworth, CA). The genomic DNA was amplified by polymerase chain reaction using specific primers for oxc gene (developed by Sidhu and associates). The stool sample tested negative for O. formigenes. The patient was prescribed potassium citrate mixture; he was advised to avoid oxalate-rich food, maintain recommended levels of calcium in his diet, and take live bio-yogurt. Two months later, 24-h urinary oxalate decreased from 0.618 to 0.411 mmol/day; 24-h urine citrate increased from 0.58 to 1.10 mmol/day. Six months later, an oxalate absorption test was performed. The patient swallowed a capsule, soluble in gastric juice, containing 50 mg (0.37 mmol) sodium [13C2]oxalate corresponding to 33.8 mg of [13C2]oxalic acid. The amount of labeled oxalate, excreted in urine, was measured by a gas chromatographic-mass spectrometric assay. Oxalate absorption, expressed as the percentage of the labeled dose recovered in the 24-h urine after dosing, was 8.3% (reference range: 2.3-17.5%). In addition to other conventional measures, oral administration of O. formigenes or lactic acid bacteria mixture to promote bacterial degradation of oxalate in the gut, and thus combat hyperoxaluria, may play a role in prevention of calcium oxalate kidney stones.
...
PMID:Hyperoxaluria, hypocitraturia, hypomagnesiuria, and lack of intestinal colonization by Oxalobacter formigenes in a cervical spinal cord injury patient with suprapubic cystostomy, short bowel, and nephrolithiasis. 1761 9


<< Previous 1 2 3 4 5 Next >>