Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder characterized by recurrent urolithiasis and nephrocalcinosis frequently leading to progressive renal insufficiency during the second decade of life. Systemic organ involvement as a result of the accumulation of calcium oxalate crystal deposits in vessel walls often is observed. We report a case of a 56-year-old woman with late-onset of PH1 who developed rapidly progressive renal failure and severe systemic oxalosis with skin and eye involvement despite intensified hemodialytic therapy during the waiting period for combined liver and kidney transplantation. This case illustrates the difficulties in treatment of PH1-induced end-stage renal disease. Combined liver and kidney transplantation should be offered to these patients as soon as possible to reverse the underlying metabolic defect and to restore renal function.
 ...
PMID:A case of late-onset primary hyperoxaluria type 1. 1184 Apr 2

Unilateral renal agenesis occurs infrequently. However, it has been associated with malignancies at multiple primary sites, anomalies of the genitourinary system, and supernumerary limbs. We present the case of a 60-year-old man with an incarcerated left inguinal hernia and renal insufficiency. At herniorrhaphy, he had squamous cell carcinoma in the hernia sac. A postoperative evaluation revealed unilateral renal agenesis, stage IV squamous cell carcinoma of the urinary bladder, and urolithiasis. The clinician should consider the genitourinary system as a primary site when patients present with the unusual finding of squamous cell carcinoma in the abdominal cavity and unilateral renal agenesis.
 ...
PMID:Squamous cell carcinoma at herniorrhaphy and unilateral renal agenesis. 1279 4

There are three stages in the management of gout: (i) treating the acute attack; (ii) lowering excess stores of uric acid to prevent flares of gouty arthritis and to prevent tissue deposition of urate; and (iii) providing prophylaxis to prevent acute flares. It is important to distinguish between therapy to reduce acute inflammation in acute gout and therapy to manage hyperuricaemia in patients with chronic gouty arthritis. During the acute gouty attack nonpharmacological treatments such as topical ice and rest of the inflamed joint are useful. NSAIDs are the preferred treatment in acute gout. The most important determinant of therapeutic success is not which NSAID is chosen, but rather how soon NSAID therapy is initiated. Other treatments include oral and intravenous colchicine, intra-articular and systemic corticosteroids, and intramuscular corticotropin. Optimal treatment of chronic gout requires long-standing reduction in serum uric acid. The urate-lowering drugs used to treat chronic gout are the uricosuric drugs, the uricostatic drugs, which are xanthine oxidase inhibitors, and the uricolytic drugs. Xanthine oxidase inhibitors such as allopurinol, oxipurinol and febuxastat should be used as first-line treatment in patients with renal calculi, renal insufficiency, concomitant diuretic therapy and ciclosporin (cyclosporine) therapy, and urate overproduction. Uricosuric drugs include probenecid, benzbromarone, micronised fenofibrate and losartan. They are the urate-lowering drugs of choice in allopurinol-allergic patients and underexcretors with normal renal function and no history of urolithiasis. The use of recombinant urate oxidase in patients with chronic gout is limited by the need for parenteral administration, the potential antigenicity and production of anti-urate oxidase antibodies, and declining efficacy. The effectiveness of colchicine prophylaxis as an isolated therapy is still to be confirmed by placebo-controlled trials. Another issue is prophylaxis with NSAIDs. There are no comparative studies with colchicine.
 ...
PMID:Management of acute and chronic gouty arthritis: present state-of-the-art. 1548 99

Clinical investigations of a patient with urolithiasis include a careful history and radiological and biochemical evaluation. Stone analysis by infrared spectrophotometry remains the most important step. These investigations are essential in order to understand why a patient developed urolithiasis and, most importantly, how to avoid its recurrence in the future. Simple exams are often enough in a patient with a single urolithiasis episode. But biochemical evaluation should be extensive in a child, or an adult with several urolithiasis episodes or with renal insufficiency.
 ...
PMID:[Radiologic and biochemical studies of urinary lithiasis]. 1549 73

The science of genetics is able to provide clinicians with early information on the inheritance of autosomal dominant polycystic kidney disease (ADPKD). It is also possible that nephrology clinicians will be able to promote early patient education and provide interventions to improve patient care. Mutations in PKD1 and PKD2 genes account for the majority of ADPKD. ADPKD is one of the most common genetic diseases in humans, crossing all ethnic populations worldwide with an occurrence of one in 500 to one in 1,000 (Igarashi and Somlo, 2002). Individuals with ADPKD, generally in their third and fourth decade, will clinically manifest the initial stages of renal insufficiency such as back pain, urinary tract infections, systemic hypertension and urolithiasis. Although the mechanisms of inheritance are well-described in many medical journals, disease onset, expression and severity are variable. The variable nature of ADPKD suggests that education is vital in helping ADPKD patients make informed decisions on their health and future.
 ...
PMID:The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice. 1567 53

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.
 ...
PMID:High incidence of hyperoxaluria in generalized peroxisomal disorders. 1662 44

Uric acid urolithiasis develops from various causes. To investigate the clinical and biochemical presentation of patients with uric acid urolithiasis, a retrospective study was designed. A total of 46 cases were enrolled between January 2004 and December 2005. The compositions of the stones were analyzed by infrared spectrophotometry. There were 39 males (84.8%) and seven females (15.2%), with a mean age of 61.5 +/- 10.6 years and mean body mass index (BMI) of 26.7 +/- 3.1 kg/m2. The stone location was kidney in 10 (21.7%), ureter in 22 (41.8%), and bladder in 14 (30.5%). Multiple stones were diagnosed in 36 patients (78.3%). Pre-existing comorbidities included diabetes mellitus in 11 patients (23.9%), hypertension in 23 (50%), gout in 13 (28.2%), and benign prostatic hyperplasia in 14 (30.4%). Mean serum creatinine and uric acid was 1.6 +/- 0.6 mg/dL and 7.6 +/- 1.8 mg/dL, respectively. There were 27 patients (58%) with creatinine > 1.4 mg/dL. The mean urinary pH was 5.42 +/- 0.46. Patients with uric acid urolithiasis were predominantly male, older, with higher BMI, multiple stone presentation, with lower urinary pH, and hyperuricemia. Exacerbation of the renal function should also be of concern because of the high proportion of patients with renal insufficiency diagnosed in this study.
 ...
PMID:Clinical study of uric acid urolithiasis. 1752 14

Acute pyelonephritis causes hospitalization and is a commonly-ignored cause of death in geriatric patients. It has been well studied in young-adult populations but rarely in geriatric populations. The aim of our study was to analyze the characteristics of acute pyelonephritis in geriatric patients. The electronic admission records of a community hospital in northeastern Taiwan were retrospectively screened from July 1, 2003 to June 30, 2006. The basic characteristics, laboratory findings and infectious microorganisms of all subjects were evaluated. Sixty-five subjects (mean age 71.6 +/- 4.9 years; range 65-84 years) and 73 admission records contributed by them were enrolled. These 65 subjects, including one who died in hospital, were predominantly female (52 subjects; 80%). Twenty-two subjects (33.8%) had co-existing diabetes mellitus, 9 subjects (13.8%) had co-existing tumors, and 19 subjects (29.2%) had a history of intra-abdominal surgery. The admission records revealed right kidney involvement (52.1%), co-existing urolithiasis (50.7%) and admission to wards of internal medicine (57.5%). Urological procedures were performed on 20 (27.4%) of all 73 admission records. Escherichia coli was the most common infecting microorganism (19.2% of all records; 42.4% of records with positive microorganism culture). Hemoglobin < 10 g/dl was a significant predictive factor for both hospital stay > 7 days and serum creatinine > 2.0 mg/dl (p = 0.003 and 0.002, respectively). Positive microorganism culture was also a significant predictive factor for hospital stays > 7 days (p < 0.001). In our geriatric patients with acute pyelonephritis, low hemoglobin levels implied co-existing renal insufficiency and prolonged hospitalization. Positive microorganism culture also implied prolonged hospitalization.
 ...
PMID:The characteristics of acute pyelonephritis in geriatric patients: experiences in rural northeastern Taiwan. 1821 88

Herein we describe the technique and review the medical records of 26 patients who underwent percutaneous nephrostolithotomy (PCNL) and simultaneous contralateral retrograde ureterorenoscopy (URS) for bilateral urolithiasis of discordant sizes at our institution. Preoperative factors, operative time, change in hemoglobin, change in serum creatinine, stone free, and efficacy rates after a single procedure were analyzed retrospectively. The total efficacy rate--defined as residual calculus of 4 mm or less--was 92.3%. A second look PCNL or URS was used to target any residual calculi; 5 of the 26 (19%) patients required further therapy following the initial intervention. All cases that required a second look were ultimately rendered stone-free. No preoperative factor was statistically significant with respect to treatment failures. In terms of complications, temporary, acute renal insufficiency occurred in 2 patients, (7.7%) and the duration was transient. Performing synchronous PCNL and contralateral retrograde URS is efficient, safe, and not more dramatically lengthy in terms of operative time or morbid in terms of complications when compared to a traditional unilateral percutaneous procedure. In this approach, management of bilateral urolithiasis in one operative procedure is practical and efficacious. The approach allows patients to return to normal activity within the same time period as those having a unilateral approach and to be free of stone without a need for a second, staged procedure.
 ...
PMID:Safety and efficacy of synchronous percutaneous nephrostolithotomy and contralateral ureterorenoscopy for bilateral calculi. 1864 19

Pediatric urolithiasis poses a technical challenge to the urologist. A review of the recent literature on the subject was performed to highlight the various treatment modalities in the management of pediatric stones. A Medline search was used to identify manuscripts dealing with management options such as percutaneous nephrolithotomy, shock wave lithotripsy, ureteroscopy and cystolithotripsy in pediatric stone diseases. We also share our experience on the subject.Shock wave lithotripsy should be the treatment modality for renal stone less than 1cm or < 150 mm(2) and proximal non-impacted ureteric stone less than 1 cm with normal renal function, no infection and favorable anatomy. Indications for PCNL in children are large burden stone more than 2cm or more than 150mm(2) with or without hydronephrosis, urosepsis and renal insufficiency, more than 1cm impacted upper ureteric stone, failure of SWL and significant volume of residual stones after open surgery. Shock wave lithotripsy can be offered for more soft (< 900 HU on CT scan) renal stones between 1-2cm. Primary vesical stone more than 1cm can be tackled with percutaneous cystolithomy or open cystolithotomy. Open renal stone surgery can be done for renal stones with associated structural abnormalities, large burden infective and staghorn stones, large impacted proximal ureteric stone. The role of laparoscopic surgery for stone disease in children still needs to be explored.
 ...
PMID:Surgical management of pediatric urolithiasis. 1971


<< Previous 1 2 3 4 5 Next >>