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)

Cystinuria is an autosomal recessive defect in transepithelial transport of dibasic amino acids (e.g. cystine) which involves the proximal canaliculi, small intestine and central nervous system. It is the least common cause of nephrolithiasis, accounting for 1 to 3% of renal calculi. The natural course of the disease, characterised by recurrent stone formation, can frequently lead to renal failure, if left untreated. Until recently, treatment of cystinuria has been limited to symptomatic management including intensive hydration and urine alkalinisation. Different drugs that react with cystine to form soluble complexes have been used but their efficacy remains questionable. We present the case of a 6-year-old boy with severe, recurrent cystine urolithiasis treated with captopril. The diagnosis of cystine urolithiasis was established after a 3-year course of clinically apparent nephrolithiasis, characterised by stone passage. At the age of 5 years he underwent lithotripsy and nephrolithotomy for removal of staghorn calculi. Since then treatment with citrate and magnesium supplementation combined with captopril was introduced. After a follow-up of 12 months the patient remained stone-free. Urinary cystine decreased from 230 to 136 mg per gram creatinine. We conclude that captopril can be useful in the treatment of cystine urolithiasis in children.
Pol Merkur Lekarski 2003 Mar
PMID:[Beneficial effect of angiotensin converting enzyme inhibitor treatment in severe cystine urolithiasis]. 1291 8

Unlike adults urolithiasis in children is a rare disease. For this reason medical treatment in this age group is still a serious therapeutic challenge. The aim of the study was to analyze the results of the applied treatment in the first incidences of urinary stones disease. A group of 143 patients aged 1.5 to 17 years was enrolled in this study. Spontaneous stone passage was obtained in case of 65 patients, which amounts to 63% of patients, who received conservative treatment. 17% were qualified to the ESWL treatment, 5.6% underwent the URS procedure, and in 2.8% of patients open surgery was performed. In 29% of cases stones were left for further observation. Conservative therapy was effective in the majority of children with small urinary stones. Preferred treatment in remaining patients were minimally invasive urological procedures.
Pol Merkur Lekarski 2008
PMID:[Treatment of first incidences of urolithiasis in children]. 1892 7

Classic xanthinuria is a rare metabolic defect concerning the final reactions of purine catabolism. There are two types of the disorder: type I results from xanthine dehydrogenase (XDH) deficiency, while type II is characterized by lack of both XDH and aldehyde oxidase activity. Both types are clinically similar and are characterized by elevated xanthine concentration in body fluids that can lead to xanthine crystallisation. The most common manifestation of the disease is urolithiasis, but in most cases xanthinuria remains asymptomatic and the diagnosis is accidental. In the paper we report the first case study of xanthinuria in Poland in a child presenting with urolithiasis. 17-years old female patient was diagnosed because of recurrent urinary lithiasis and hypouricemia was detected during routine tests. Plasma and urine concentrations of oxypurines were measured by high-performance liquid chromatography (HPLC) and showed typical features of xanthinuria: hypouricemia, hypouricosuria, xanthinuria and elevated plasma xanthine. The allopurinol loading test demonstrated type I xanthinuria. The presented case report supports that first symptoms of xanthinuria can appear at any age and this disorder should be considered during diagnosing urolithiasis.
Pol Merkur Lekarski 2010 Aug
PMID:[Xanthinuria type I as the cause of nephrolithiasis in 17-years old girl]. 2084 24

The present investigation is an attempt to evaluate the effect of Bergenia ciliata extract on kidney of ethylene glycol induced urolithiasis in adult female Wistar rats. The hydro-alcoholic extract of Bergenia ciliata/standard drug cystone were administrated simultaneously at a dose of 150 and 300 mg/kg body weight/day, p.o. along with ethylene glycol (0.75% v/v) for 28 days. Significant changes were observed in body weight and absolute organ weight of ethylene glycol treated rats. Also histopathological results showed disrupted renal parenchyma, degenerative changes in glomeruli and focal calcification in glomerulo-tubular structures in ethylene glycol treated animals. Administration of Bergenia ciliata extract/cystone along with ethylene glycol showed significant protective effect in body weight and organ weight with few stray areas of calcifications in glomeruli. Moreover, Bergenia ciliata extract shows higher renoprotective index than cystone at the same dose level.
Acta Pol Pharm
PMID:Bergenia ciliata extract prevents ethylene glycol induced histopathological changes in the kidney. 2192 16

In open urological operations planning and appropriate course of treatment based on the experience of operator and information collected directly by the sense of vision and touch during operation. With the development of minimally invasive urology surgical techniques, as well as laparoscopic techniques, the operator is facing an increasing problem associated with the increasingly limited access to the operating area, or just watching them directly on the monitor. Currently looking for new techniques for better imaging, planning, carrying out surgery, and improving access to the surgical site. These techniques should allow dynamic linking of intraoperative image (anatomy of the operating field) with a two-dimensional pre-operative imaging studies of 2-D, as well as intraoperative imaging, three-dimensional 3-D. A promising treatment is surgery technique-driven image (IGT--image guided therapy), whose essence is to carry out the surgery with indirect insight into the operative field. Intraoperative three-dimensional imaging allows for real-time three-dimensional visualization of the operative field available to the operator, as well as the invisible. The paper reviews the current imaging techniques used during the surgical treatment of urolithiasis, renal cancer and prostate cancer.
Pol Merkur Lekarski 2011 Aug
PMID:[Urological surgical technique using image guided therapy]. 2193 52

Infectious urolithiasis is a result of recurrent and chronic urinary tract infections caused by urease-positive bacteria, especially Proteus mirabilis. The main role in the development of this kind of stones is played by bacterial factors such as urease and extracellular polysaccharides, but urinary tract environment also contributes to this process. We used an in vitro model to establish how the changes in the basic minerals concentrations affect the intensity of crystallization which occurs in urine. In each experiment crystallization was induced by an addition of P. mirabilis to artificial urine with a precisely defined chemical composition. Crystallization intensity was determined using the spectrophotometric microdilution method and the chemical composition of formed crystals was established by atomic absorption spectroscopy and colorimetric methods. Increasing the concentration of all crystals forming ions such as Mg(2+), Ca(2+) and phosphate strongly intensified the process of crystallization, whereas reducing the amount of these components below the proper physiological concentration did not affect its intensity. The inhibitory influence of citrate on calcium and magnesium phosphate crystallization and competitive actions of calcium and oxalate ions on struvite crystals formation were not confirmed. In the case of infectious stones the chemical composition of urine plays an important role, which creates a necessity to support the treatment by developing a model of proper diet.
Acta Biochim Pol 2015
PMID:Various intensity of Proteus mirabilis-induced crystallization resulting from the changes in the mineral composition of urine. 2565 61

Pyonephrosis in the course of hydronephrosis usually provides to total or near-total loss of renal function. In adults pyonephrosis usually results from urolithiasis. In children usually congenital urinary tract anomalies are present as contributing factors.
Pol Merkur Lekarski 2018 Apr 23
PMID:Pyonephrosis as the first symptom of congenital hydronephrosis in a 6-year old girl. 2977 48

Primary hyperparathyroidism is one of the most common endocrine diseases, however, it is rare in children. In most cases, it is caused by adenoma of these organs. Its most common complications include urolithiasis, nephrocalcinosis and osteoporosis.
Pol Merkur Lekarski 2018 Apr 23
PMID:[Recurrent urolithiasis as a symptom of primary hyperparathyroidism in a 16-year-old boy]. 2977 51

Early castration of male small ruminants is regarded as a risk factor for urolithiasis, although the underlying correlations are still unclear. One possible reason is a deferred development of the penis and the urethra after castration. Therefore, we examined the penis and urethra of castrated and intact lambs by ultrasonography to determine the correlation between urethral area and pe- nile cross-sectional area. Ultrasonography was performed in 6-month-old Lacaune crossbred lambs (early castrated, late castrated, and intact; each group, n = 11). Sectional images at 5 loca- tions (glans penis, penile urethra, distal and proximal sigmoid flexure, and ischial arch) were ob- tained to determine the urethral and penile diameters. Urethral and penile cross-sectional areas were calculated. Grey-scale analysis of ultrasound images was performed to evaluate possible differences in the penile texture between the groups. Correlation analyses between both cross-sectional areas showed a significant general correlation for location 2 in all lambs (R = 0.52; P = 0.003), for location 3 in late-castrated lambs, and for location 5 in early-castrated lambs. Statistically significant correlations between the penile and the urethral area of castrated and intact lambs were not evident. Therefore, measurement of the penile cross-sectional area alone does not allow for accurate estimation of urethral size. Statistically significant differences con- cerning the grey-scale analysis between the groups were also not detectable. Thus, simplification of the formerly presented ultrasonographic examination of the urethra is not recommended. In animals at a risk of obstructive urolithiasis, complete urethral examina- tion is essential.
Pol J Vet Sci 2019 Mar
PMID:Comparative ultrasonographic examination and measurements of the urethra and penis of castrated and intact male lambs. 3099 72

Parathyroid hyperactivity is the state of over-production and PTH secretion [1]. The most common cause of primary hyperparathyroidism is parathyriod adenoma - about 80% of cases, the remaining are parathyroid hyperplasia around 15%cases [2] [3], and in 1-5% of cases, cancer [2] [3] [4] [5]. The disease is diagnosed inabout 40 people in 100,000 [5] [6] [3] [7]. The most common cause of adenoma is the mutation in gene MEN 1. Less than 5% of cases are chronichyperparathyroidism, which is a component of the MEN 1 MEN 2a endocrine adenocarcinoma syndrome [1]. Excess PTH in the body leads to increased mobilization of calcium from the bones, and henceincreased osteolysis, what also increases the absorption of calcium from thedigestive system, as well as an increased amount of phosphate excretion in the urine. Clinical picture of the disease is multiform and often runs in a latent form. Most often the diseaseoccurs in the form of osteoporosis, chronic recurrent kidney stones, and is also commonpyelonephritis on the basis of urolithiasis. The disease may be accompanied by: dysphagia, abdominal pain, metallic taste in the mouth, persistent constipation. In addition, from the systemnervous: dizziness and headaches, disturbances of consciousness. Arrhythmia the form of additional contractions and paroxysmal tachycardia. Osteolysis, osteoporosis and pathological fractures [1]. The purpose of this article is to bring closer to the reader case of 33 years old woman with primary hyperparathyroidism on the adenoma.
Pol Przegl Chir 2019 Sep 12
PMID:Primary hyperparathyroidism on the example of a 33-year-old female patient with parathyroid adenoma. 3275 98


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