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)

Inherited adenine phosphoribosyltransferase (APRT) has a recessive transmission. When it is very important, adenine can't be restored into nucleic acids pool and will changed into 2,8-dihydroxyadenine (2,8-DHA) by xanthine oxidase. To date in all countries but Japan, 2,8-DHA urolithiasis is observed only into homozygotic subjects with complete APRT deficiency Commonly, its onset is observed in childhood often dramatically. The authors report two new pediatric cases into new french families. First a 8 years old boy with spontaneous elimination of two lithiasis after right lumbar pain. Secondly an infant (nineteen months) who has presented an acute renal failure with anuria. Bilateral lithiasis included into pyelourectal junctions have been pulled out by bilateral surgical pyelotomy. In each case, lithiasis were radiolucent and diagnosis made by ultrasonography. The uric acid metabolism was normal and it is the infra red spectrophotometric study of stones that had recognised the 2,8-DHA component. In the second case, bilateral residual lithiasis have been broken by piezoelectric extra-corporeal lithotripsy with good tolerance and favorable result. The two children received preventive treatment. After 36 and 19 months they have no recurrence. In the literature, the frequency of 2,8-DHA lithiasis is very more low than the theoretical of homozygotics in population (1/100,000). The common confusion with uric lithiasis is one possible explanation. So spectrophotometric study of radiolucent stones was meant to be realised when uric metabolism is not disturbed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]. 238

This report describes the results of clinical trials of the second generation extracorporeal shock wave lithotriptor (Sonolith 2000 Type B) in patients with upper urinary tract stones. The studies were carried out on 101 cases at the Departments of Urology, Juntendo University School of Medicine, Kanto Teishin Hospital and General Daiyukai Hospital from Nov. 1987 to Jun. 1988. The location of stones were renal calyx and pelvis in 84 cases, ureteropelvic junction in 7 cases and upper ureter in 12 cases (2 of them had multiple stones at different levels). The average number of treatment per a patient was 1.25, and that of shock waves delivered per treatment was 1798. Ultrasound localization has been effective in all cases. The rate of destruction of the stones was 100% in the kidney, 66.7% in the upper ureter, with an overall average of 95.0%. On the X-ray film obtained six weeks after ESWL treatment, the stone free rate was 53.5%, and the effectiveness rate was 89.1%, including the cases of stone free and cases with fragments smaller than 5 mm. No serious adverse effect was observed, although there were mild transient hematuria in all cases and pyrexia (more than 38.0 degrees C) in 7 cases (6.9%). The procedure was performed safely in the majority of patients without anesthesia. In 10 cases, we applied anesthesia (epidural anesthesia in 3 cases, and local anesthesia in 7 cases) for the prevention of pain. It is concluded that ESWL treatment using Sonolith 2000 Type B is as effective as other types of shock wave lithotriptor previously applied to urolithiasis without serious clinical complication.
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PMID:[Clinical application of Sonolith 2000 type B on extracorporeal shock wave lithotripsy for upper urinary tract calculi]. 259 42

A case of the young female patient is presented. The patient was treated for urolithiasis for several years. The disease was diagnosed with urography only revealing urinary retention. The use of a contrast enabled to diagnose disorders of the vascularization of kidneys causing urinary retention. It is worth mentioning that atypical localization of pain in the right epigastric region additionally complicated the diagnosis.
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PMID:[Rotated, exceedingly movable kidney vascularized by four atypically branched arteries as a cause of periodic urinary retention in the pyelo-caliceal system and masked by biliary colic]. 263 89

Urolithiasis is a common, multifactorial, medically manageable disease. Primary care physicians can play a prominent role in metabolic evaluation and medical treatment of patients with urolithiasis. Patients should be referred for urologic evaluation in the presence of intractable urinary tract infection, progressive renal damage, urinary obstruction, refractory pain, or presence of stones of uncertain etiology. Expectant management of symptomatic ureteral stones can be undertaken by a primary care physician in conjunction with urologic support. Interventional treatment of urinary stones has improved markedly with the availability of extracorporeal shock-wave lithotripsy, and percutaneous stone removal. In patients with certain types of urinary stones, medical treatment can greatly reduce the incidence of subsequent stone-forming episodes.
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PMID:Urolithiasis in primary care. 269 48

Inherited adenine phosphoribosyltransferase (APRT) has a recessive transmission. When it is very important, adenine can't be restored into nucleic acids pool and will changed into 2,8-dihydroxyadenine (2,8-DHA) by xanthine oxydase. To date in all countries but Japan, 2,8-DHA urolithiasis is observed only into homozygotic subjects with complete APRT deficiency. Commonly, its onset is observed in childhood often dramatically. The authors report two new pediatric cases in two new french families. First a 8 year old boy with spontaneous elimination of two lithiasis after right lumbar pain. Secondly an infant (nineteen months) who has presented an acute renal failure with anuria. Bilateral lithiasis incluted into pyeloureteral junctions have been pulled out by bilateral surgical pyelotomy. In each case, lithiasis were radioluscent and diagnosis made by ultrasonography. The uric acid metabolism was normal and it is the infra red spectrophotometric study of stones that had recogniseed the 2,8-DHA component. In the second case, bilateral residual lithiasis have been broken by piezoelectric extracorporeal lithotrypsy with good tolerance and favorable result. The two children received permanent preventive treatment. After 36 and 19 months they have no recurrence. In the literature, the frequency of 2,8-DHA lithiasis is very more low than the theorical incidence of homozygotics in population (1/100,000). The common confusion with uric lithiasis is one possible explanation. So spectorophotometric study of radioluscent stones was meant to be realised when uric metabolism is not disturbed. Prevention associates alimentary diet without purins and permanent treatment by allopurinol (10 mg/kg/day in a child). Not used to date, piezo-electric extracorporeal lithotrypsy seems to take a place for treatment of initial, residual or recurrent 2,8-DHA lithiasis like for our young patient.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]. 269 87

A series of 19 patients who underwent extracorporeal shock-wave lithotripsy (ESWL) for urolithiasis was compared with 26 patients who were treated with surgical lithotomy (SL). A historical clinical trial was conducted using hospital chart records and telephone interviews to determine differences in outcome between the two groups. The ESWL group had significantly (p less than 0.05) shorter duration of post-procedural pain, fewer requirements for pain medications, and decreased anxiety toward repetition of the procedure than did the SL group. In addition, the ESWL group had significantly (p less than 0.05) shorter hospital stays, faster return to work on discharge from the hospital, and less physical limitation after the procedure. There was no appreciable difference in the occurrence of post-procedure urinary tract infections or in the patient's perception of the effectiveness of the procedure. These findings support the conclusion that treatment of urolithiasis by ESWL, is preferable to open flank SL.
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PMID:Comparison of extracorporeal shock-wave lithotripsy and surgical lithotomy regarding patient satisfaction. 271 55

In 210 patients with urolithiasis extracorporeal shock wave lithotripsy was performed without regional, general or infiltration anesthesia by means of a technically unmodified Dornier HM3 lithotriptor. The stone burden varied from small ureteral stones to complete staghorn stones. All patients were given premedication with pethidine and diazepam, and a lidocaine-prilocaine-containing cream was applied on the skin at the entry site of the shock wave. Energy usually varied between 14 and 16 kv. More than 90% of the patients reported the pain to be at most of moderate intensity and acceptable. Less than 3% found the treatment unpleasant. The results were compared to those obtained in 250 patients treated with anesthesia according to the original procedure, with a generator voltage of 18 to 23 kv. The number of extracorporeal shock wave lithotripsy sessions for ureteral and large stones was somewhat higher with the low energy method than with the original procedure. However, the therapeutic result in terms of renal units without stones after 4 weeks was similar to that recorded for patients treated with the anesthesia method. According to these promising results we believe that extracorporeal shock wave lithotripsy without anesthesia in an unmodified Dornier HM3 lithotriptor can be performed successfully in a majority of patients and is an attractive alternative to other technical modifications of the equipment.
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PMID:Evaluation of extracorporeal shock wave lithotripsy without anesthesia using a Dornier HM3 lithotriptor without technical modifications. 281 Apr 89

Idiopathic hypercalciuria (IH) in adults is recognized as a cause of urolithiasis. If IH is symptomatic, the symptoms are hematuria, renal colic, or obstructive uropathy with or without infection. In children, IH has been linked to the spectrum of urinary symptoms including hematuria, pyuria, dysuria, recurrent urinary infections, abdominal or suprapubic pain, proteinuria, and the frequency-urgency syndrome. Hematuria may appear prior to the appearance of stones, and thiazide therapy appears to prevent stone formation by decreasing urinary calcium excretion. This report describes an older adolescent with hematuria and flank pain. His urinary chemistry values were not consistently typical of IH, but a thiazide trial with withdrawal challenge was diagnostic. His case is remarkable because, though essentially an adult, his disease was typical of prepubertal disease. Adolescents with unexplained urinary symptoms should be evaluated for IH. The urinary calcium-creatinine ratio may not be elevated, and timed urinary calcium may be equivocal. In some cases a thiazide trial may be valuable and cost effective.
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PMID:Atypical idiopathic hypercalciuria in an adolescent. 318 67

The Piezolith 2200 allows not only a qualitatively identical treatment of urolithiasis like the HM-Dornier systems or the Siemens Lithostar, but the application of lithotriptable urinary calculi could be extended to cardiac risk patients, to patients with skeletal deformities and to those with unusual body height and weight. As the piezolithotripsy does not cause pain, treatment is possible without anaesthesia or analgesia. Combined with internal ureteral stenting by self-retaining double-J-ureteral catheter also calculi with larger stone masses can be treated advantageously by exclusive piezolithotripsy as monotherapy. Multiple treatments by the piezolithotriptor are possible because of good focussing of the shock waves and the smaller parenchymal alteration. Lithotripsy of ureteral calculi is performed in the upper and lower part of the ureter. In small calculi the retrograde introduction of an ureteral catheter armed with an "ultrasound mirror" is necessary.
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PMID:[Extracorporeal shockwave lithotripsy in the treatment of urolithiasis--experiences from a center with the Piezolith 2200 and HM3 lithotriptors]. 338 94

The relation between signs and symptoms of Paget's disease of bone was studied in 180 patients consecutively submitted for treatment. In these patients 826 lesions were identified by scintigraphy. The intensity of scintigraphic uptake was correlated with long-term calcium uptake in bone. The frequency distribution of lesions over the patients was compatible with a 65 per cent chance of local disease once the patient had been exposed to an extraneous agent. The spatial distribution within a skeleton was related to the local density of the osteoclast population. The particular frequency distribution resulted in a log-normal distribution diagram for anatomical spread. Within lesions, increases in numbers of osteoclasts and osteoblasts were proportional and these too had a log-normal distribution. Increases of alkaline phosphatase levels and hydroxyproline excretion were closely related and reflected anatomical spread on the one hand and local activity on the other. They were also closely correlated with overall calcium fluxes. It was shown that alkaline phosphatase is the more sensitive and hydroxyproline the more accurate of the biochemical signs. Maximum values, corresponding to total skeletal disease, were approximately 25 times the upper limit of normal. Equilibrium between bone formation and resorption was not always maintained. There were, indeed, wide variations of urinary calcium, which were significantly related to the difference between bone formation and resorption, but the extracellular calcium homeostasis was generally maintained. This may explain the frequent occurrence of normocalcaemic and hypercalcaemic hyperparathyroidism. The hypercalciuria constitutes an additional risk for urolithiasis in men. The most frequent complaint was pain (86 per cent). Extent of lesions was important, but a major decisive factor was the specific nature of the bone affected. The findings allowed assessment of the relative importance of the various signs, symptoms and locations as criteria of disease severity and as indications for treatment.
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PMID:Relation between signs and symptoms in Paget's disease of bone. 371 67


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