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)

Urolithiasis, the process of formation of stones in the kidney and the urinary tract, is the major clinical manifestation of hyperoxaluria. Crystal deposition, as indicated by increased stone-forming constituents in urine, such as calcium, oxalate and uric acid, and decreased concentration of inhibitors, such as magnesium and glycosaminoglycans, was observed in pyridoxine-deficient hyperoxaluric rats. Renal tubular damage was indicated by increased excretion of enzymes such as alkaline phosphatase, lactate dehydrogenase, gamma-glutamyl transferase, beta-glucuronidase and N-acetyl glucosaminidase. Fibrinolytic activity was found to be reduced. Administration of pentacyclic triterpenes such as lupeol and its structural analogue betulin to hyperoxaluric rats minimised the tubular damage and reduced the markers of crystal deposition in the kidneys. In this connection, lupeol was found to be more effective than betulin.
Fitoterapia 2000 Sep
PMID:Control of urinary risk factors of stones by betulin and lupeol in experimental hyperoxaluria. 1144 2

To study prospectively the risk factors and etiology of urolithiasis in all stone patients aged <15 years admitted from 1991 to 1999 to the Arabkir hospital in Yerevan. Stones were obtained by surgery (64%), extracorporeal shockwave lithotripsy (ESWL) (7%) or cystoscopic extraction (4%); 25% passed spontaneously. All were examined by infrared spectroscopy, and spot urines were analyzed chemically. 198 patients, 180 (68% males) with renal stones and 18 (83% males) with primary bladder stones, were studied. Calcium oxalate (CaOx) was the predominant constituent in 62% of the kidney stones, followed by struvite (17%), calcium phosphate (7%), uric acid (7%), ammonium acid urate (5%), and cystine (2%). Bladder stones contained CaOx in 72%, uric acid in 22% and ammonium acid urate in 6% of patients. Etiology was obviously metabolic in 5% and possibly metabolic in 26%. Twenty percent of stones were infectious, and 19% were endemic (9% bladder and 10% kidney stones); 4% were secondary to urinary stasis with malformation but no infection. Etiology in 26% remained unknown. Stone composition and metabolic etiology are similar to that in central Europe and North America. In contrast, infectious calculi and particularly endemic stones are still common, although becoming less so now. Urolithiasis in Armenia thus reflects the transition from a rural to an urban society.
Pediatr Nephrol 2001 Sep
PMID:Pediatric urolithiasis in Armenia: a study of 198 patients observed from 1991 to 1999. 1151 87

A steer examined because of obstructive urolithiasis and urethral rupture underwent laser lithotripsy, using a chromium-thulium-holmium:yttrium-aluminum-garnet (Ho:YAG) laser inserted through an ischial urethrotomy. Procedures were performed with caudal epidural anesthesia. Six months after surgery, the urethra was patent with no clinical evidence of urethral stricture or fistula. Ischial urethrotomy provided rapid access to the bladder for catheterization and to the obstructive urolith for lithotripsy. Laser lithotripsy was a rapid and effective means of urolith removal in this steer.
J Am Vet Med Assoc 2001 Sep 01
PMID:Laser lithotripsy of a urethral calculus via ischial urethrotomy in a steer. 1154 94

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

The androgen receptor gene (AR) contains a domain which includes a variable number of CAG sequences and alleles with low numbers of CAG repeats show high transactivation activity when complexed with testosterone. The ratio of 2nd and 4th digit length (2D:4D) is negatively correlated with phenotypic effects of testosterone. Low numbers of CAG repeats and low 2D:4D are both associated with high sperm numbers and protection against breast cancer. This suggests that CAG number and 2D:4D are correlated i.e. low CAG number and low 2D:4D indicate high activation of androgen-responsive genes. Findings from AR studies predict that low 2D:4D will be associated with prostate and hepatocellular cancer, urolithiasis, ADHD, ankylosing spondylitis, spontaneous abortion, and polycystic ovaries, while high 2D:4D will be associated with motor neuron diseases and endometrial cancer. Findings from 2D:4D studies predict that short CAG length will be common in autism and Asperger's syndrome, while high numbers of CAG repeats will be found in men who are prone to early myocardial infarction.
Med Hypotheses 2002 Sep
PMID:The ratio of 2nd to 4th digit length: a proxy for transactivation activity of the androgen receptor gene? 1220 64

A 5-year-old boy had periodic spasms and startle-induced drop attacks. Zonisamide (ZNS) was partially effective for the former seizures, and propranolol for the latter. An add-on therapy with ACTH resulted in a transient disappearance of seizures and an improvement of EEG. However, the patient developed urolithiasis with resultant hematuria and pyelectasis during ACTH therapy. ZNS can induce urolithiasis by increasing urinary pH and calcium (Ca) excretion, and ACTH may facilitate this rare adverse effect of ZNS by further increasing the urinary Ca. Hydrochlorothiazide could resolve the urolithiasis by decreasing the urinary Ca excretion.
No To Hattatsu 2002 Sep
PMID:[Urolithiasis induced by combined ACTH and zonisamide treatment in a patient with startle induced epilepsy]. 1223 54

Investigations were carried out to evaluate the efficacy of the pentacyclic triterpene, lupeol and its ester, lupeol linoleate, against calcium oxalate urolithiasis in rats. Administration of a pyridoxine deficient diet containing 3% glycollic acid for 21 days led to increased excretion of stone forming constituents such as calcium, oxalate and uric acid. Crystal deposition and subsequent renal tubular damage resulted in increased excretion of the tubular enzymes alkaline phosphatase, lactate dehydrogenase, gamma glutamyl transferase, beta glucuronidase and N-acetyl glucosaminidase along with reduced fibrinolytic enzymes. A reduction in the urinary inhibitory factors magnesium and glycosaminoglycans was also observed. Treatment with lupeol and lupeol linoleate reduced the extent of tubular damage as evidenced from reduced enzymuria and minimized the excretion of stone forming constituents.
Phytother Res 2002 Sep
PMID:Evaluation of the effect of triterpenes on urinary risk factors of stone formation in pyridoxine deficient hyperoxaluric rats. 1223 6

Cystinuria is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in urolithiasis of cystine. Cystinuria is caused by defects in the amino acid transport system b0,+ (i.e. the rBAT/b0,+AT heteromeric complex). Mutations in SLC3A1, encoding rBAT, cause cystinuria type A, characterized by a silent phenotype in heterozygotes (phenotype I). Mutations in SLC7A9, encoding b0,+AT, cause cystinuria type B, in which heterozygotes in most cases hyperexcrete cystine and dibasic amino acids (phenotype non-I). To facilitate in vivo investigation of b0,+AT in cystinuria, Slc7a9 knockout mice have been generated. Expression of b0,+AT protein is completely abolished in the kidney of Slc7a9-/- mice ('Stones'). In contrast, Stones expressed significant amounts of rBAT protein, which is covalently linked to unidentified light subunit(s). Stones mice present a dramatic hyperexcretion of cystine and dibasic amino acids, while Slc7a9+/- mice show moderate but significant hyperexcretion of these amino acids (phenotype non-I). Forty-two per cent of Stones mice develop cystine calculi in the urinary system. Calculi develop during the first month of life and grow throughout the life span of the animals. Histopathology in kidney reveals typical changes for urolithiasis (tubular and pelvic dilatation, tubular necrosis, tubular hyaline droplets and chronic interstitial nephritis). The fact that some Stones mice, generated in a mixed genetic background, develop cystine calculi from an early age, while others do not develop them in their first year of life, suggests the involvement of modifier genes in the lithiasis phenotype. Thus, Stones provide a valid model of cystinuria which can be used in the study of genetic, pharmacological and environmental factors involved in cystine urolithiasis.
Hum Mol Genet 2003 Sep 01
PMID:Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. 1291 71

Cystinuria, one of the most common inborn errors of metabolism in humans, accounts for 1-2% of all cases of renal lithiasis. It is caused by defects in the heterodimeric transporter system rBAT/b0,+AT, which lead to reduced reabsorption of cystine and dibasic amino acids through the epithelial cells of the renal tubules and the intestine. In an N-ethyl-N-nitrosourea mutagenesis screen for recessive mutations we identified a mutant mouse with elevated concentrations of lysine, arginine and ornithine in urine, displaying the clinical syndrome of urolithiasis and its complications. Positional cloning of the causative mutation identified a missense mutation in the solute carrier family 3 member 1 gene (Slc3a1) leading to an amino acid exchange D140G in the extracellular domain of the rBAT protein. The mouse model mimics the aetiology and clinical manifestations of human cystinuria type I, and is suitable for the study of its pathophysiology as well as the evaluation of therapeutic and metaphylactic approaches.
Hum Mol Genet 2003 Sep 01
PMID:A mouse model for cystinuria type I. 1292 63

Secondary hyperoxaluria is due either to increased intestinal oxalate absorption or to excessive dietary oxalate intake. Certain intestinal diseases like short bowel syndrome, chronic inflammatory bowel disease or cystic fibrosis and other malabsorption syndromes are known to increase the risk of secondary hyperoxaluria. Although the urinary oxalate excretion is usually lower than in primary hyperoxaluria, it may still lead to significant morbidity by recurrent urolithiasis or progressive nephrocalcinosis. A clear distinction between primary and secondary hyperoxalurias is important. As correct classification may be difficult, appropriate diagnostic tools are needed to delineate the metabolic background as a basis for optimal treatment. We developed an individual approach for the evaluation of patients with suspected secondary hyperoxaluria. First, 24 h urines are examined repeatedly for lithogenic (e.g. calcium, oxalate, uric acid) and stone-inhibitory (e.g. citrate, magnesium) substances, and the patients are asked to fill in a dietary survey form. Urinary saturation is calculated using the computer based program EQUIL2, and the BONN-Risk-index is determined. The measurement of plasma oxalate and of urinary glycolate helps to distinguish between primary and secondary hyperoxalurias. If secondary hyperoxaluria is suspected, the stool is examined for Oxalobacter formigenes, an intestinal oxalate degrading bacterium, as lack or absence may lead to increased intestinal oxalate absorption. The last diagnostic step is to study the intestinal oxalate absorption using [13C2]oxalate. Depending on the results, various therapeutic options are available: 1) a diet low in oxalate, but normal or high in calcium, 2) a high fluid intake (>1.5 L/m2/d), 3) medications to increase the urinary solubility, 4) specific therapeutic measures in patients with malabsorption syndromes, depending on the underlying pathology, and 5) intestinal recolonization of Oxalobacter formigenes or the treatment with other oxalate degrading bacteria.
Front Biosci 2003 Sep 01
PMID:Diagnostic and therapeutic approaches in patients with secondary hyperoxaluria. 1295 11


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