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)

Primary hyperparathyroidism in children is very rare. It is caused by overproduction of parathormone by a pathologically changed parathyroid gland. We carried out a retrospective study in 10 patients (age 10-17 years) who had surgical treatment between 1996 and 2007. The main signs of primary hyperparathyroidism were urolithiasis, nephrolithiasis, nephrocalcinosis and bone resorption, as well as non-specific signs such as fatigue, torpidness and muscle weakness. Patients were examined using sonography, MIBI-scintigraphy, CT and MRI. Calcium was measured before and after surgery; parathormone was monitored postoperatively. Surgery was curative in nine patients; reoperation was necessary in one patient because an ectopic parathyroid gland was not detected during the primary operation. Other major complications were not observed. Removal of pathologically changed parathyroid glands offers definitive and safe treatment of primary hyperparathyroidism in children. Special care should be taken if an ectopic parathyroid gland is suspected.
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PMID:Surgical treatment of primary hyperparathyroidism in children: report of 10 cases. 1851 6

The sodium phosphate co-transporters Npt2a and Npt2c play important roles in the regulation of phosphate homeostasis. Slc34a1, the gene encoding Npt2a, resides downstream of the gene encoding coagulation factor XII (f12) and was inadvertently modified while generating f12(-/-) mice. In this report, the renal consequences of this modification are described. The combined single allelic mutant Slc34a1m contains two point mutations in exon 13: A499V is located in intracellular loop 5, and V528M is located in transmembrane domain 11. In addition to the expected coagulopathy of the f12(-/-) phenotype, mice homozygous for the double allelic modification (f12(-/-)/slc34a1(m/m)) displayed hypophosphatemia, hypercalcemia, elevated levels of alkaline phosphatase, urolithiasis, and hydronephrosis. Strategic cross-breedings demonstrated that the kidney-related pathology was associated only with autosomal recessive transmission of the slc34a1(m) gene and was not influenced by the simultaneous inactivation of f12. Npt2a[V528M] could be properly expressed in opossum kidney cells, but Npt2a[A499V] could not. These results suggest that a single amino acid substitution in Npt2a can lead to improper translocation of the protein to the cell membrane, disturbance of phosphate homeostasis, and renal calcification. Whether point mutations in the SLC34A1 gene can lead to hypophosphatemia and nephrolithiasis in humans remains unknown.
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PMID:A missense mutation in the sodium phosphate co-transporter Slc34a1 impairs phosphate homeostasis. 1865 Apr 75

Stones (calculi) in the urinary tract (urolithiasis) or kidney (nephrolithiasis) occur in 5% of the population. The lifetime risk of passing a stone is 8-10%. Men are twice as likely to develop stones, with the first episode occurring before 30 years of age. Stones are caused by the aggregation of crystalline mineral deposits in the urine. Calcium stones are the most common type of stone. Investigations for stone disease include plain X-ray, X-ray with contrast media, ultrasound imaging, and computed tomographic (CT) scanning. Treatment of stones is dependent on the size and location, e.g. lithotripsy is used to break down stones in the ureter or kidney, whereas litholapaxy is used for stones in the bladder that are too large to be passed urethrally. Alpha-blocker medication (e.g. tamsulosin) can facilitate spontaneous passing of a stone. Nurses have a crucial role in assessment, management and provision of discharge advice for patients. Strategies for preventing stones include increasing the urine output (by giving 2-3 litres of fluid per day) and dietary modification, particularly reduction in animal protein and salt content.
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PMID:Urinary tract stones: types, nursing care and treatment options. 1856 65

The study has been undertaken to improve the methods for diagnosing urolithiasis, which comprehensively evaluate the severity of a pathological process and the results of treatment in patients with nephrolithiasis. The paper gives the data of investigating the processes of chromatographic mass spectrometric urinalysis in 82 patients aged 15 to 81 years urgently admitted to the units of urology of Moscow City Clinical Hospital Seven for a renal colic attack. The levels of lithogenic substances were measured in patients with different types of metabolic disturbances. There was evidence that the chromatographic mass spectrometric parameters of the level of lithogenic substances and hydrolytic enzymes might be used as diagnostic criteria for the progression of urolithiasis, the prediction of the severity of a pathological process, and the development of preventive methods against lithogenesis in patients with a renal colic attack.
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PMID:[Chromatographic mass spectrometric assessment of the course of different forms of urolithiasis]. 1859 Jan 64

Two West Indian manatees (Trichechus manatus spp.) were reported with severe emaciation. One animal was a Florida manatee from the Everglades; the other was an Antillean manatee from Cuba. On necropsy, both animals had nephrolithiasis, pyelonephritis, and moderate to severe renomegaly. Histopathology revealed multifocal to diffuse pyelonephritis, interstitial nephritis, and nephrocalcinosis. The stones were analyzed and consisted primarily of calcium carbonate. Serum chemistry values for the Florida animal revealed no renal abnormalities. The mechanism of calculus formation remains unclear in manatees. In horses, another hindgut fermenter, the most common urolith is also calcium carbonate. Urinalyses performed on manatees are very similar to those of horses (i.e., alkaline urine, low specific gravity, and calcium carbonate crystals). Formation of uroliths in manatees may have a pathogenesis similar to equine urolithiasis.
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PMID:Nephrolithiasis and pyelonephritis in two West Indian manatees (Trichechus manatus spp.). 1868 58

Calcium oxalate (CaOx) nephrolithiasis has a complex pathogenic mechanism. Besides environmental factors, genetic factors also have influence on stone formation. This study represents the effects of heparan sulfate (HSPG2) gene polymorphism for determining the risk of urolithiasis. We investigated 143 CaOx stone formers with 158 healthy individuals for the BamHI restriction site polymorphism located in intron 6 of the HSPG gene using the polymerase chain reaction, restriction fragments length polymorphism method. After digestion with BamHI, the polymorphism was assumed to cause three genotypes according to the banding types as GG (242 bp), GT (242, 144, and 98 bp) and TT (144 and 98 bp). According to the genotype frequencies between the groups, TT genotype showed significantly increased risk for urolithiasis than TG and GG genotypes. We concluded that HSPG2 gene polymorphism might be one of the genetic factors affecting the CaOx stone formation.
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PMID:Heparan sulfate gene polymorphism in calcium oxalate nephrolithiasis. 1906 75

Nephrolithiasis is associated with a high cost to society because of the high prevalence of disease and high recurrence rates. The total annual medical expenditures for urolithiasis in the United States were estimated at $2.1 billion in 2000. The cost of stone disease reflects the cost of health care services required to manage stone disease and the rate of utilization. Although the care of individuals with urolithiasis has shifted from the inpatient to the outpatient setting and the hospital length of stay has decreased, costs continue to rise because of increases in the prevalence of kidney stones. There are 2 potential areas that would allow for a decrease in stone disease-related costs, lower health care-related costs, and decreased prevalence of stone disease. Reducing treatment-related costs are unlikely to provide a solution to the high cost of caring for stone disease because physician-fee reductions did not result in a significant reduction in costs. Furthermore, there are no significant advancements in surgical technique or technologies in the horizon. One area of cost savings could be to develop better guidelines for acute management, optimizing timing for surgery in acute settings and increasing the practice of medical expulsive therapy. Another area with potential to reduce costs is the reduction of overall stone burden through the prevention of new stones or recurrences. Strategies for primary prevention in high-risk populations have not been studied and represent an area for future research. More efforts should be made to improve medical management of stone formers. These efforts include improving dietary recommendations, identifying barriers to evaluations and treatment of recurrent stone formers, improving patient compliance with recommendations, and development of new medications.
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PMID:Economics and cost of care of stone disease. 1909

Calcium oxalate monohydrate (COM) crystals bind avidly to the surface of proliferating and migrating renal endothelial cells, and oxalate-induced peroxidative injury can promote crystal attachment to renal epithelial cells. 1,2,3,4,6-penta-O-galloyl-beta-D-glucose (PGG), isolated from a traditional herbal remedy, inhibits vascular endothelial growth factor (VEGF) stimulated proliferation and migration of human umbilical vein endothelial cells (HUVECs) and has antioxidant activity. This study was performed to determine if PGG altered calcium oxalate monohydrate (COM) crystal adhesion to cells, perhaps via a change in cell surface properties. PGG significantly decreased COM crystal adhesion to cultured MDCK I cells at a low concentration (<10 microM) which was not cytotoxic. PGG exerted anti-adhesion effects whether cells or crystals were pre-coated. PGG also inhibited cell migration after scrape-wounding, decreased subsequent adhesion of crystals to proliferating and migrating cells, and decreased expression of the crystal binding molecule hyaluronan. These findings suggest that PGG represents a potential urolithiasis prevention compound. Anti-crystal adhesion effects appear multifaceted involving crystal coating by PGG, as well as decreased cell migration and the associated surface expression of hyaluronan. The latter represents a novel mechanism of nephrolithiasis prevention.
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PMID:1,2,3,4,6-penta-O-galloyl-beta-D-glucose attenuates renal cell migration, hyaluronan expression, and crystal adhesion. 1937 53

Increase in body size increases the risk of renal stone formation. The mechanism explaining this relationship remains unclear. Urine pH is one of the important factors for urinary stone formation. The purpose of this study was to determine whether there is an association between urine pH and body mass index (BMI) in patients with urolithiasis. Medical charts review that included 342 urinary stone formers (248 men and 94 women). Data obtained included patient sex, age, BMI, urine pH at diagnosis, and stone composition. The patients were classified as normal weight (18.5 <or= BMI < 24), overweight (24 <or= BMI < 27), or obese (BMI >or= 27). The mean urine pH of the normal body weight, overweight, and obese groups was 6.25, 6.14, and 6.00, respectively (P < 0.05). Urine pH is inversely related to BMI among patients with urolithiasis. Among patients with urolithiasis, higher BMI will have lower urine pH. This may explain why obesity is associated with an increased risk of nephrolithiasis. Weight loss should be explored as a potential treatment to prevent kidney stone formation. The prevention of urinary stone disease gives clinicians an additional reason to encourage weight reduction through diet.
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PMID:Association of body mass index and urine pH in patients with urolithiasis. 1946 24

Female Sprague-Dawley rats (n = 100; age, 3 wk) were fed diets that included a vitamin premix and either albumin or milk powder. Rats fed the albumin diet gained weight more slowly than did the other group. Between 19 and 28 wk of being fed the albumin diet, 12 rats died of bacterial cystitis and pyelonephritis. In addition, 2 more rats from the same dietary group developed peritonitis after ovariohysterectomy. Examination of the 44 rats fed the albumin diet that completed the 34-wk experiment revealed pyelonephritis in 68%, cystitis in 66%, urolithiasis in 27%, and nephrolithiasis in 5%. Squamous metaplasia of the transitional epithelium was present in all 44 rats, although other epithelia were histologically normal. Vitamin A deficiency was diagnosed after analyses of blood and liver samples. Analysis of the vitamin premix revealed approximately 25% of the expected amount of vitamin A. Because the milk powder contained sufficient vitamin A, deficiency did not occur in rats fed the milk powder diet. The major consequences of vitamin A deficiency in the rats were squamous metaplasia, bacterial infection, and calculus formation within the urinary tract. This report illustrates the importance of careful formulation and storage of vitamin premixes used in experimental diets. Vitamin A deficiency should be considered in rats with decreased weight gain and urinary tract disease even if ocular lesions are not present.
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PMID:Cystitis, pyelonephritis, and urolithiasis in rats accidentally fed a diet deficient in vitamin A. 1993 Aug 29


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