Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

Men are known to be at greater risk of urolithiasis and cardiovascular and renal diseases than women. Previous studies suggest that greater urine concentration is associated with acceleration of progression of chronic kidney disease (CKD), increased urinary albumin excretion, and delayed renal sodium excretion. The present review addresses possible sex-related differences in urine volume and osmolality (U(osm)) that could participate in this male risk predominance. Because of the scarcity of information, we reanalyzed 24-h urine data collected previously by different investigators for other purposes. In nine studies concerning healthy subjects (6 studies) or patients with CKD or diabetes mellitus, U(osm) (or another index of urine concentration based on the urine/plasma creatinine concentration ratio) was 21-39% higher (i.e., about a 150 mosm/kgH2O difference) in men than in women. Urine volume was not statistically different. Thus, the larger osmolar load of men (related to their higher food intake) is excreted in a more concentrated urine with no difference in urine volume. This sex difference was not influenced by the level of sodium excretion and was still present in CKD patients. Sex differences in thirst threshold, AVP level, and other regulatory mediators may all contribute to the higher male U(osm). Because of the previously demonstrated adverse effects of vasopressin and/or high urine concentrating activity, the greater tendency of men to concentrate urine could participate in their greater susceptibility to urolithiasis and hypertension and to the faster progression towards end-stage renal failure.
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PMID:Sex difference in urine concentration across differing ages, sodium intake, and level of kidney disease. 1699 Apr 87

Chronic renal failure (CRF) remains a significant cause of mortality in Yemen. There are about 568 patients with end-stage renal failure (ESRD) who receive chronic hemodialysis in seven centers in Yemen. We studied 372 CRF patients admitted for evaluation at our center from June 1997 to December 2000 in order to determine the pattern of etiology of their renal disease. Of the study patients, 253 (68%) were males and the age ranged from 4 to 80 years with a mean of 42.7 +/- 38 years. There were 215 (57.8%) patients who had unknown causes of CRF, followed by post-renal causes such as urolithiasis and pyelonephritis. Hyper-tension and diabetes mellitus were the least encountered etiologies in our study patients. There were 243 (66.3%) patients who required dialysis because of symptoms and signs of advanced renal failure; 60.2% of them were hypertensive, 80.3% were anemic with a mean hemo-globin of 79.6 gm/l, 26.9% were hyperkalemic, 52.6% were hypocalcemic and 61.0% had hyper-phosphatemia. We conclude that there are serious diagnostic and therapeutic problems in our health-care system that need addressing in order to improve health care.
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PMID:Causes of Chronic Renal Failure at one Center in Yemen. 1765 96

Hyperoxaluria can lead to multiple pathologic conditions such as recurrent urolithiasis, oxalosis, nephrocalcinosis and even renal failure, but there is no known oxalate-degrading pathway in the human body, and current therapeutic options for patients with hyperoxaluria are limited. Oxalyl-CoA decarboxylase and formyl-CoA transferase are the key enzymes in the oxalate catabolism of Oxalobacter formigenes which dwell in the intestine of vertebrates and have an important symbiotic relationship with their hosts. The aim of this study was to insert the oxalate-degrading enzyme genes into human embryo kidney (HEK) 293 cells and to evaluate if the oxalate-degrading enzymes could be expressed in these cells and keep their enzyme activity. We present here the cloning of the two genes from O. formigenes and their subsequent expression in HEK293 cells. The results showed that the expression of oxalyl-CoA decarboxylase and formyl-CoA transferase was confirmed by RT-PCR and Western blotting, and the proteins were located in the cytoplasm of transfected cells. Furthermore, the transfected cells were capable to a certain degree of degrading oxalate. These findings suggest that the transfer of oxalate-degrading enzyme genes into human cells is possibly a potential candidate for the gene therapy of hyperoxaluria.
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PMID:Stable expression of the oxc and frc genes from Oxalobacter formigenes in human embryo kidney 293 cells: implications for gene therapy of hyperoxaluria. 1778 82

The objective of this study was to evaluate the role of urolithiasis, infection, and bladder dysfunction in the pathogenesis of renal failure in rats subjected to supratrigonal cystectomy. One group of Sprague-Dawley rats was submitted to supratrigonal cystectomy, a second to cystectomy during which a suspension of Proteus mirabilis was injected into the bladder stump, and a third to sham surgery (controls). The animals were sacrificed two months after surgery. Blood pressure and serum urea and creatinine were measured before surgery and at sacrifice when a careful inspection of the urinary tract was performed to determine the presence of hydronephrosis and calculi. Microbiological analyses were performed on urine aspirated from the bladder and on the kidneys. Significant differences were found between values of systolic blood pressure and serum urea and creatinine recorded prior to the surgical procedure and those recorded at sacrifice in each group except the control group. Renal failure was present in all animals subjected to cystectomy. Urinary calculi were documented in 5/10 animals subjected to cystectomy only and in all rats inoculated with P. mirabilis. Hypertension was documented in 43.75% of animals subjected to cystectomy. Pyelonephritis was diagnosed only in animals with urinary calculi, in each of which urine culture was also positive. No cases of renal failure, hypertension, calculi, and/or pyelonephritis were detected in the sham group. The findings of this study indicate that kidney failure in rats subjected to supratrigonal cystectomy is related to the severe bladder dysfunction induced by the surgical procedure.
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PMID:Experimental supratrigonal cystectomy: II--Evaluation of urinary calculi, infection, and bladder dysfunction in the pathogenesis of renal failure. 1808 27

We describe here hydrothorax that occurred in a patient on continuous ambulatory peritoneal dialysis (CAPD) and highlight the problems of diagnosis and management. A 48 years-old man with history of obstructive uropathy secondary to urolithiasis was stared on CAPD when he reached end-stage renal failure. Two months later, he was admitted with two days history of shortness of breath on exertion and dry cough increasing in supine position. Chest examination was suggestive of right sided pleural effusion confusion confirmed by chest X-ray. Radioisotope Technetium 99m labeled albumin instilled through the peritoneal catheter was detected in the right pleural fluid confirming the peritoneo-pleural leak. The peritoneal dialysis (PD) was discontinued and the patient was switched to hemodialysis. The pleural effusion subsided and has not recurred for the following three years.
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PMID:Acute Hydrothorax Complicating continuous Ambulatory Peritoneal Dialysis: A Case Report and Review of Literature. 1821 27

Two cases are reported in which it is suggested that water deprivation in laying hens resulted in urolithiasis as well as acute renal disease. With either condition birds appeared to have died terminally from renal failure with lesions of visceral gout.
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PMID:Water deprivation as a cause of renal disease in chickens. 1877 Feb 28

The provision of tertiary paediatric nephrology facilities has led to increasing referrals of children with chronic renal failure (CRF). We report the aetiology and outcomes over 5 years, during which period the improving socio-economic situation has allowed increasing provision of dialysis and transplantation. The records of 205 children (124 male; 60.5%) who were referred to a tertiary paediatric nephrology unit in Khartoum between 2001 and 2006 with a glomerular filtration rate of less than 50 ml/min per 1.73 m(2) body surface area were reviewed. The mean age at the time of diagnosis with CRF was 9.8 years (range 3 months-17 years). The aetiology was chronic glomerulonephritis in 52 (25.4%), congenital urological malformations in 36 (17.5%), urolithiasis in 19 (9.3%), hereditary nephropathy in 14 (6.8%), multisystem diseases in 4 (2%), and cause unknown in 80 (39.1%). Of the 205 children, 136 (63%) had reached end-stage renal failure, with chronic haemodialysis being undertaken in 48 (35.3%), intermittent peritoneal dialysis in 43 (31.6%), continuous ambulatory peritoneal dialysis in 17 (14.7%), and no treatment in 25 (18.4%). At the end of the study period 53 of the 205 (25.9%) remained on dialysis, 51 (25%) were on conservative treatment, 8 (3.9%) had received transplants, 48 (23.4%) had died, and 45 (22%) had been lost to follow-up. The results illustrate the geographical variations in CRF aetiology in different countries, which may be influenced by current patterns of referral as well as environmental and society factors. The large number with an unknown aetiology for their CRF requires further prospective investigation. We hope the current high mortality rate will improve with earlier referral, improved nutrition, family support, and better access to treatment modalities, especially the provision of kidney transplantation from living related donors.
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PMID:Chronic renal failure in Sudanese children: aetiology and outcomes. 1895 1

Urolithiasis and nephrocalcinosis are more frequent in children then currently anticipated, but still remain under- or misdiagnosed in a significant proportion of patients, since symptoms and signs may be subtle or misleading. All children with colicky abdominal pain or macroscopic hematuria should be examined thoroughly for urolithiasis. Also, other, more general, abdominal manifestations can be the first symptoms of renal stones. The patients and their family histories, as well as physical examination, are important initial steps for diagnostic evaluation. Thereafter, diagnostic imaging should be aimed at the location of calculi but also at identification of urinary tract anomalies or acute obstruction due to stone disease. This can often be accomplished by ultrasound examination alone, but sometimes radiological methods such as plain abdominal films or more sensitive non-enhanced computed tomography are necessary. Since metabolic causes are frequent in children, diagnostic evaluation should be meticulous so that metabolic disorders that cause recurrent urolithiasis or even renal failure, such as the primary hyperoxalurias and others, can be ruled out. The stone is not the disease itself; it is only one serious sign! Therefore, thorough and early diagnostic examination is mandatory for every infant and child with the first stone event, or with nephrocalcinosis.
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PMID:Diagnostic examination of the child with urolithiasis or nephrocalcinosis. 1910 42

Plasma oxalate (POx) concentration is significantly elevated in primary hyperoxaluria, severe renal failure or ethylene glycol poisoning. In these conditions, the degree of hyperoxalemia correlates with the severity of systemic calcium oxalate (CaOx) deposition and should be therefore carefully monitored. Although secondary hyperoxaluria (secHyOx) is a common finding in pediatric patients with kidney stone disease, very little is known about POx in this condition. We therefore evaluated POx level in 59 children and adolescence with calcium urolithiasis (34 confirmed by CaOx stone analysis and 25 children with a strong clinical suspicion of this type of urolithiasis), with or without "mild" secHyOx. A control group consisted of 41 healthy sex- and age-matched children. We found that POx was significantly increased in children with calcium urolithiasis and secHyOx compared to healthy children (9.16 +/- 3.60 vs. 6.42 +/- 2.53 micromol/l), but that was not the case in children with calcium urolithiasis but with normal urinary oxalate excretion (7.12 +/- 3.33 micromol/l). We conclude that POx may be slightly increased in some pediatric calcium stone formers with secHyOx, probably related to intestinal oxalate hyperabsorption.
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PMID:Plasma oxalate level in pediatric calcium stone formers with or without secondary hyperoxaluria. 1918 75

The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are principal manifestations. End stage renal failure frequently occurs and is followed by systemic oxalate deposition along with its devastating effects. Due to the lack of familiarity with PHs and their heterogeneous clinical expressions, the diagnosis is often delayed until there is advanced disease. In recent years, improvements in medical management have been associated with better patient outcomes. Although there are several therapeutic options that can help prevent early kidney failure, the only curative treatment to date is combined liver-kidney transplantation in patients with type I PH. Promising areas of investigation are being identified. Knowledge of the spectrum of disease expression, early diagnosis, and initiation of treatment before renal failure are essential to realize a benefit for patients.
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PMID:The primary hyperoxalurias. 1922 56


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