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)

Toxic nephropathy is a disorder whose primary feature is impairment of the normal functions of the kidney. The clinical manifestations of toxic nephropathy vary from a mild reduction in renal function to hematuria, proteinuria, and urolithiasis to a severe progressive toxicity culminating in end-stage renal disease. Although it is commonplace for adolescents to use supplemental treatments such as natural medicines and over-the-counter (OTC) analgesics, they do not often reveal the use of such treatments to physicians, nor do they fully understand their potential adverse effects. This article reviews the nephrotoxic effects of OTC analgesics, natural medicines, and illicit drugs.
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PMID:Nephrotoxicity of over-the-counter analgesics, natural medicines, and illicit drugs. 1584 82

Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without family history. A possible approach to this problem is to search for CLCN5 mutations in patients who may have a high prevalence of mutations: end-stage renal disease (ESRD) patients with previous calcium, struvite, or radio-opaque (CSR) stones. We looked for CLCN5 mutations in 25 males with ESRD-CSR stones selected from all of the patients (1,901 individuals, of which 1,179 were males) of 15 dialysis units in the Veneto region. One DD patient had a new DD mutation (1070 G > T) in exon 7. The new polymorphism IVS11-67 C > T was detected in intron 11 in one patient and one control. We also found 28 females with ESRD and stone history, and seven more males with ESRD and non-CSR stones. The prevalence of stone formers among dialysis patients in our region was 3.2%, much lower than the prevalence observed in older studies. Struvite stones continue to play a major role in causing stone-associated ESRD .
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PMID:Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. 1624 50

In primary hyperoxaluria the deficiency or mistargeting of hepatic alanine-glyoxylate aminotransferase (AGT) leads to the overproduction of oxalate resulting in hyperoxaluria and renal damage due to urolithiasis and/or nephrocalcinosis. Presently, the cure of the metabolic defect can be achieved only by liver transplantation. While for patients with end-stage renal disease combined hepatorenal transplantation is recommended, the concept of preemptive liver transplantation (PLTX), i.e. cure of the metabolic defect before renal damage occurs, has received considerable attention. Due to the heterogenous clinical course in PH1, optimal timing of PLTX is a matter of debate. Advocators of PLTX would consider a patient with a slowly declining GFR, reaching levels of 40-60 ml/min/1.73 m(2), as an ideal candidate, while others would continue medical treatment in these patients and opt for rapid combined liver-kidney transplantation if GFR reaches even lower levels. This review will discuss the background and rationale of PLTX and gives an update on 11 patients with PLTX who have been reported in the literature to date.
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PMID:The role of preemptive liver transplantation in primary hyperoxaluria type 1. 1628 78

The Zellweger spectrum disorders (ZSDs) are characterized by a generalized loss of peroxisomal functions caused by deficient peroxisomal assembly. Clinical presentation and survival are heterogeneous. Although most peroxisomal enzymes are unstable in the cytosol of peroxisome-deficient cells of ZSD patients, a few enzymes remain stable among which alanine:glyoxylate aminotransferase (AGT). Its deficiency causes primary hyperoxaluria type 1 (PH1, MIM 259900), an inborn error of glyoxylate metabolism characterized by hyperoxaluria, nephrocalcinosis, and renal insufficiency. Despite the normal level of AGT activity in ZSD patients, hyperoxaluria has been reported in several ZSD patients. We observed the unexpected occurrence of renal stones in a cohort of ZSD patients. This led us to perform a study in this cohort to determine the prevalence of hyperoxaluria in ZSDs and to find clinically relevant clues that correlate with the urinary oxalate load. We reviewed medical charts of 31 Dutch ZSD patients with prolonged survival (>1 year). Urinary oxalate excretion was assessed in 23 and glycolate in 22 patients. Hyperoxaluria was present in 19 (83%), and hyperglycolic aciduria in 14 (64%). Pyridoxine treatment in six patients did not reduce the oxalate excretion as in some PH1 patients. Renal involvement with urolithiasis and nephrocalcinosis was present in five of which one developed end-stage renal disease. The presence of hyperoxaluria, potentially leading to severe renal involvement, was statistically significant correlated with the severity of neurological dysfunction. ZSD patients should be screened by urinalysis for hyperoxaluria and renal ultrasound for nephrocalcinosis in order to take timely measures to prevent renal insufficiency.
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PMID:High incidence of hyperoxaluria in generalized peroxisomal disorders. 1662 44

Renal transplantation is the treatment of choice for end-stage renal disease. Living related kidney donation is the major source of renal grafts due to limited availability of cadaveric kidneys. Open nephrectomy was used to harvest donor kidneys. However, the laparoscopic approach is associated with less postoperative pain and quick recovery. So, most centers now prefer a laparoscopic approach to explant donor kidneys. Laparoscopic approach is technically challenging due to limited operative visibility. Hence, accurate preoperative detection of renal arterial and venous anomalies is imperative to avoid inadvertent vascular injury and bleeding. The preoperative workup of renal donors includes clinical evaluation, laboratory tests, and imaging. Traditionally, the renal donors were evaluated with conventional imaging techniques, which included renal catheter angiography and intravenous urography. However, conventional imaging is invasive, expensive, and less accurate for evaluation of complex renal venous anomalies, small calculi, and diffuse or focal renal parenchymal lesions. The introduction of multidetector row computed tomography (MDCT) revolutionized the CT technology by enabling isotropic resolution with faster scan coverage in a single, short breath-hold. Consequently, MDCT has now replaced conventional imaging for comprehensive imaging of potential living renal donors. MDCT is a minimally invasive technique that can accurately detect urolithiasis, renal arterial and venous anomalies, renal parenchymal lesions, and urinary tract anomalies. Renal vascular anomalies detected by MDCT can help the surgeon in planning donor nephrectomy. MDCT with three-dimensional CT angiography enables accurate preoperative renal vascular mapping. This article reviews the role of MDCT in preoperative evaluation of potential laparoscopic renal donors.
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PMID:Multidetector row computed tomography evaluation of potential living laparoscopic renal donors: the story so far. 1670 Nov 21

Urinary obstruction is rarely associated with a distinct granulomatous inflammation, which involves the pyelocalyceal system and closely simulates infectious conditions including tuberculosis. Its clinicopathologic features, however, have not been adequately studied since there are only seven isolated reported cases. In a comprehensive study of 112 kidney specimens with urinary obstruction, we identified five cases of granulomatous pyelitis. The features of these cases were detailed and compared with the previously reported cases. Among the five identified subjects, three patients had history of urolithiasis and two had ureteral stenosis and all had stent placement 7 weeks to 12 years before nephrectomy for relief of the unilateral urinary obstruction. The age distribution was between 38 and 81 years. Two had end-stage renal disease or chronic renal failure. The pyelocaliceal system showed frank hydronephrosis (1 case) or partial dilatation (4 cases) and contained cheesy and gritty material in its lumen. Each case showed severe granulomatous inflammation, which was limited to the pelvic wall and closely associated with calcified debris, necrotic inflammatory cells, and material consistent with Tamm-Horsfall protein. The kidney showed chronic tubulointerstitial nephritis but without granulomas. Cultures of urine, blood, and the renal pelvic content, and special stains of tissue sections did not show fungi or mycobacteria in any case. Many of these features were also observed in previously reported cases. Granulomatous pyelitis is a rare but distinct cliniocopathologic entity characterized by severe noninfectious granulomatous inflammation limited to the renal pelvis, which is uniformely asociated with urinary obstruction and pyelocalyceal dilatation and may develop in response to accumulated calcified material in the renal pelvis. Awareness of this entity and its characteristic clinicopathologic features also helps eliminate an infectious etiology with obvious treatment and prognostic implications.
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PMID:Granulomatous pyelitis associated with urinary obstruction: a comprehensive clinicopathologic study. 1671 72

Genetic disorders of mineral metabolism cause urolithiasis, renal disease, and osteodystrophy. Most are rare, such that the full spectrum of clinical expression is difficult to appreciate. Diagnosis is further complicated by overlap of clinical features. Dent's disease and primary hyperoxaluria, inherited causes of calcium urolithiasis, are both associated with nephrocalcinosis and urolithiasis in early childhood and renal failure that can occur at any age but is seen more often in adulthood. Bone disease is an inconsistent feature of each. Dent's disease is caused by mutations of the CLCN-5 gene with impaired kidney-specific CLC-5 chloride channel expression in the proximal tubule, thick ascending limb of Henle, and the collecting ducts. Resulting hypercalciuria and proximal tubule dysfunction, including phosphate wasting, are primarily responsible for the clinical manifestations. Low-molecular-weight proteinuria is characteristic. Definitive diagnosis is made by DNA mutation analysis. Primary hyperoxaluria, type I, is due to mutations of the AGXT gene leading to deficient hepatic alanine-glyoxylate aminotransferase activity. Marked overproduction of oxalate by hepatic cells results in the hyperoxaluria responsible for clinical features. Definitive diagnosis is by liver biopsy with measurement of enzyme activity, with DNA mutation analysis used increasingly as mutations and their frequency are defined. These disorders of calcium urolithiasis illustrate the value of molecular medicine for diagnosis and the promise it provides for innovative and more effective future treatments.
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PMID:Stones, bones, and heredity. 1680 Nov 62

Primary hyperoxaluria type 1, the most common form of primary hyperoxaluria, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine: glyoxylate aminotransferase (AGT). This results in increased synthesis and subsequent urinary excretion of the metabolic end product oxalate and the deposition of insoluble calcium oxalate in the kidney and urinary tract. As glomerular filtration rate (GFR) decreases due to progressive renal involvement, oxalate accumulates and results in systemic oxalosis. Diagnosis is still often delayed. It may be established on the basis of clinical and sonographic findings, urinary oxalate +/- glycolate assessment, DNA analysis and, sometimes, direct AGT activity measurement in liver biopsy tissue. The initiation of conservative measures, based on hydration, citrate and/or phosphate, and pyridoxine, in responsive cases at an early stage to minimize oxalate crystal formation will help to maintain renal function in compliant subjects. Patients with established urolithiasis may benefit from extracorporeal shock-wave lithotripsy and/or JJ stent insertion. Correction of the enzyme defect by liver transplantation should be planned, before systemic oxalosis develops, to optimize outcomes and may be either sequential (biochemical benefit) or simultaneous (immunological benefit) liver-kidney transplantation, depending on facilities and access to cadaveric or living donors. Aggressive dialysis therapies are required to avoid progressive oxalate deposition in established end-stage renal disease (ESRD), and minimization of the time on dialysis will improve both the patient's quality of life and survival.
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PMID:Primary hyperoxaluria type 1: still challenging! 1681 May 17

The paper comparatively analyzes the effect of the mineral water "Penta" on the biochemical parameters of blood and urine, which characterize the functional activity of renal metabolic processes. A group comprising 10 examinees without renal disease took water by the routine mineral water scheme for 4 days. Comparison of the biochemical parameters before and after water taking revealed a significant reduction in azotemia and uric acid levels with its simultaneously enhanced excretion, as well as an increasing tendency for the excretion of oxalates, i.e. the most important parameters determining the formation of urate and oxalate calculi. These findings allow use "Penta", to a certain degree, in the treatment of renal disease, urolithiasis in particular, and in the prevention of stone formation.
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PMID:[Effect of mineral water on metabolic processes]. 1692 59

Protein measurement in urine has been used for many years for the diagnosis and monitoring of renal disease. The pattern of urinary protein excretion can be used to identify the cause of the disease and to classify proteinuria. In recent years, proteomics has proven to be a powerful tool in investigation and clinical medicine. Proteomics employs a protein separation method and the identification of proteins using mass spectrometry. One of the objectives of clinical proteomics is the identification of biological markers of disease. To accomplish this, it is necessary to have a normal proteome of the medium in question, which in our case is urine. Comparison of the normal urinary proteome with the urinary proteome from patients with a defined disease can detect proteins expressed differentially from one another. The aim of this review is to present the situation of urinary proteomics, putting special emphasis on its application in the diagnosis of glomerular diseases, renal allograft rejection, urological cancers and urolithiasis.
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PMID:Urinary proteomics. 1694 64


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