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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Francois Gigot de la Peyronie, surgeon to Louis XV of France, has become synonymous with the rather enigmatic though not uncommon condition of Peyronie's disease (PD), a localized connective tissue disorder of the penile tunica albuginea. The true prevalence of Peyronie's disease is unknown. Therefore, we decided to perform an evaluation of existing epidemiological data. A prevalence rate of 3.2% was determined in male inhabitants of the greater Cologne area. This is much higher than revealed by the data reported up to now, thus rendering the accepted prevalence rates of 0.3% to 1% untenable. The actual prevalence of Peyronie's disease may be even higher, considering many patients' reluctance to report this embarrassing condition to their physicians. Along these lines, most clinicians note that the number of Peyronie's patients has increased since the advent of oral sildenafil. Comparably high prevalences are known for diabetes and urolithiasis, suggesting a greater frequency of this rare disease than formerly believed.
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PMID:Epidemiology of Peyronie's disease. 1245 89

Urolithiasis in children is a rare disease in developed countries. Due to the particular anatomical conditions of the infant body, indications and results of the well-known treatment modalities, such as shockwave lithotripsy (SWL), ureteroscopy and PCNL, have to be determined. Experience in active stone treatment in children is very rare and only a limited number of papers are available. SWL can be performed only if focus size and treatment facilities are adapted to the size of the child. Miniaturization of ureteroscopes allows primary access to the infant upper urinary tract. Results, complications and morbidity of the treatment are similar to the results in adults. The main prerequisite for the primary endoscopic approach is the experience of the surgeon. PCNL should be performed as Mini-Perc. Percutaneous procedures show equal results and morbidity compared to the treatment of adults, in experienced hands. As two-thirds of infant stone patients have an underlying metabolic disorder, close cooperation of adult and pediatric urologists, nephrologists and radiologists is necessary in order to achieve good results in the treatment of infant stones.
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PMID:Shockwave lithotripsy and endourological stone treatment in children. 1644 80

Urolithiasis disease during pregnancy fortunately is a relatively rare disease; nevertheless many times it complicates the diagnosis and treatment. This paper reviews the safety and efficacy of both and their relationships with mother and fetus and proposes different options for the urologist, gynecologist, and urogynecologist for the attention of pregnant women with suspicion of urolithiasis. The ultrasound seems to be the first-choice method during the pregnancy; it is available in many health centers and does not require too much experience for its interpretation. Intravenous urography, simple X-ray and magnetic resonance image with its limitations aid support to our clinical suspicion; additionally the uretheroscopy is the diagnostic and therapeutic method and can be used safely during the pregnancy; thus first-choice study is the ultrasound with changes in vascular resistance rates. Once diagnosis is established, conservative treatment is applied because the majority of patients has spontaneous elimination of stones (70 to 80%). Surgical intervention can be an option and when is needed, placement of an uretheral catheter JJ, percutaneous nephrostomy and uretheroscopy may be an option to definitive treatment.
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PMID:[Urolithiasis and pregnancy]. 1829 61

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.
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PMID:[Treatment of first incidences of urolithiasis in children]. 1892 7

Pediatric urolithiasis is a relatively rare disease that can have lifelong consequences. The management of pediatric urolithiasis should be individualized with careful consideration of the patients' small body sizes, delicate tissues, needs for general anesthesia with every procedure, and risks of long-term complications. Miniaturization of urological instruments has made the treatment of distal ureteral stones by ureteroscopy in children more common, but there are few reports of the ureteroscopic removal of large upper ureteral stones in infants. We present a case of a 10-month-old female who simultaneously underwent ureteroscopic surgery and endoscopic Deflux(R) injection for treatment of a 22x10 mm unilateral upper ureteral stone and bilateral vesicoureteral reflux. We also review the current treatment options for pediatric urolithiasis.
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PMID:Ureteroscopic surgery for a large upper ureteral stone in an infant with bilateral vesicoureteral reflux. 2041 16

Primary hyperoxaluria (PH) occurs due to an autosomal recessive hereditary disorder of the metabolism of glyoxylate, which causes excessive oxalate production. The most frequent and serious disorder is due to enzyme deficit of alanine-glyoxylate aminotransferase (PH type I) specific to hepatic peroxisome. As oxalate is not metabolised in humans and is excreted through the kidneys, the kidney is the first organ affected, causing recurrent lithiasis, nephrocalcinosis and early renal failure. With advance of renal failure, particularly in patients on haemodialysis (HD), calcium oxalate is massively deposited in tissues, which is known as oxalosis. Diagnosis is based on family history, the presence of urolithiasis and/or nephrocalcinosis, hyperoxaluria, oxalate deposits in tissue forming granulomas, molecular analysis of DNA and enzyme analysis if applicable. High diagnostic suspicion is required; therefore, unfortunately, in many cases it is diagnosed after its recurrence following kidney transplantation. Conservative management of this disease (high liquid intake, pyridoxine and crystallisation inhibitors) needs to be adopted early in order to delay kidney damage. Treatment by dialysis is ineffective in treating excess oxalate. After the kidney transplant, we normally observe a rapid appearance of oxalate deposits in the graft and the results of this technique are discouraging, with very few exceptions. Pre-emptive liver transplantation, or simultaneous liver and kidney transplants when there is already irreversible damage to the kidney, is the treatment of choice to treat the underlying disease and suppress oxalate overproduction. Given its condition as a rare disease and its genetic and clinical heterogeneity, it is not possible to gain evidence through randomised clinical trials. As a result, the recommendations are established by groups of experts based on publications of renowned scientific rigour. In this regard, a group of European experts (OxalEurope) has drawn up recommendations for diagnosis and treatment, which were published in 2012.
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PMID:Primary hyperoxaluria. 2479 59

Twin and genealogy studies suggest a strong genetic component of nephrolithiasis. Likewise, urinary traits associated with renal stone formation were found to be highly heritable, even after adjustment for demographic, anthropometric and dietary covariates. Recent high-throughput sequencing projects of phenotypically well-defined cohorts of stone formers and large genome-wide association studies led to the discovery of many new genes associated with kidney stones. The spectrum ranges from infrequent but highly penetrant variants (mutations) causing mendelian forms of nephrolithiasis (monogenic traits) to common but phenotypically mild variants associated with nephrolithiasis (polygenic traits). About two-thirds of the genes currently known to be associated with nephrolithiasis code for membrane proteins or enzymes involved in renal tubular transport. The thick ascending limb of Henle and connecting tubules are of paramount importance for renal water and electrolyte handling, urinary concentration and maintenance of acid-base homeostasis. In most instances, pathogenic variants in genes involved in thick ascending limb of Henle and connecting tubule function result in phenotypically severe disease, frequently accompanied by nephrocalcinosis with progressive CKD and to a variable degree by nephrolithiasis. The aim of this article is to review the current knowledge on kidney stone disease associated with inherited defects in the thick ascending loop of Henle and the connecting tubules. We also highlight recent advances in the field of kidney stone genetics that have implications beyond rare disease, offering new insights into the most common type of kidney stone disease, i.e., idiopathic calcium stone disease.
Urolithiasis 2019 Feb
PMID:Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules. 3046 May 27