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)

Bilateral staghorn renal calculi in a 7-year-old girl with cystinuria were dissolved over a period of 6 months, using a high fluid intake, urinary alkalinisation, and D-penicillamine. Even in children with extensive cystine urolithiasis, medical management may avert the need for surgery.
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PMID:Dissolution of bilateral staghorn cystine renal calculi. 4 90

A 2 1/4 year-old boy was treated for cystinuria and urolithiasis with high fluid intake, sodium bicarbonate, and D-penicillamine, over a period of 5 3/4 years, unauthorized interruptions and prescribed pauses included. Therapy was partially sucessful but regrowth of calculi coincided with interruptions of D-penicillamine administration and also with the institution of a low-dose D-penicillamine regime. Flat feet, scoliosis, pectus carinatum, hypermobility of joints, molluscoid pseudotumors and atrophic scars were alarming side effects of D-penicillamine. However, the possibility was not excluded that a forme fruste of an Ehlers-Danlos syndrome preexisted in this boy and was effected by D-penicillamine. Only the molluscoid pseudotumors regressed when D-penicillamine was reduced or omitted temporarily. Osteolathyrism caused by D-penicillamine has hitherto not been reported in man.
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PMID:Skin and bone lesions (dermato-osteolathyrism), possible side effects of D-penicillamine treatment, in a boy with cystinuria. 15 71

Many variables are known to be associated with the formation of calcium oxalate urolithiasis but none is essential for the initiation or growth of stones. It is likely that the predisposition to stone formation is related to multiple factors. We herein describe still another metabolic state that seems to predispose to calcium oxalate stone disease, namely heterozygosity for cystinuria. Cystine screening tests were done on 24-hour urine specimens obtained from 126 patients in whom recurrent calcium oxalate stones form and 84 controls and quantitative amino acid determinations were done on all positive specimens. Of those studied 17 of 126 stone patients and 1 of 84 controls were heterozygous cystinurics. A test of the differences between the relative frequencies of cystinuria heterozygotes in the 2 groups with Fisher's exact test revealed them to be highly significant (p less than 0.001). Our study indicates that carrier status for 1 of the cystinuria genes predisposes to calcium oxalate stone formation but, like other factors related to urolithiasis, it is not a necessary cause of stone disease.
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PMID:Heterozygous cystinuria and calcium oxalate urolithiasis. 45 88

The causes of, and physiopathological factors underlying the most common metabolic disorders implicated in the formation of renal stones are reviewed. These include hypercalciuria, hyperoxaluria, renal tubular acidosis, cystinuria and disturbances of purine metabolism. Apart from metabolic disorders the risk of stone formation is also influenced by a low inhibitor activity in urine. Though some aspects in the pathogenesis of urolithiasis remain uncertain, the exact knowlege of important aetiological factors of stone formation is the basis of correct treatment and the prevention of recurrence of urinary calculi.
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PMID:[The evaluation of patients with urinary calculi discloses disturbances of metabolism in 75% of all cases (author's transl)]. 47 69

Cystinuria is a complex hereditary disorder that affects both sexes with equal frequency and severity. Symptoms usually begin early (children and young adults) but may develop at any age. Stature is normal and there are no clinical nutritional abnormalities. The morbidity of cystine urolithiasis is considerable. Hyperuricemia is a frequent associated finding and is probably the result of multiple factors. No other abnormalities are consistently related to this disease. Treatment with adequate oral fluids to ensure a copious urine volume and with oral alkali to keep the urine alkaline is most successful when used prophylactically in the stone-free patient. However, dissolution of existing calculi is unlikely with this regimen alone. The addition of D-penicillamine often results in dissolution of stones and prevention of recurrent calculi in patients who have continued stone growth despite the use of oral fluids and alkali. Because toxic reactions with D-penicillamine are frequent and sometimes severe, this drug should be used only when necessary and then as an adjunct to rather than a substitute for increased oral fluids and alkali. Failure of treatment in spite of adequate therapy should alert the physician to the possibility of coexisting complicating problem.
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PMID:Clinical features and management of cystinuria. 89 95

Cystinuria is an inherited disorder of amino acid transport affecting the epithelial cells of the renal tubules and the gastro-intestinal tract. Treatment consists of the prophylaxis of recurrent urolithiasis, which is the clinical manifestation of the disease. Long-term treatment with alpha-mercapto-propionyl-glycine (MPG; Thiola) promises to be successful. 3 cytinuric patients with recurrent urolithiasis underwent treatment over a period of 6 months. Therapy was controlled by regular follow-up investigations of the urinary excretion and serum levels of cystine and di-basic amino acids. The results did not indicate any permanent decrease in cystine excretion. No recurrence of renal calculi was observed. The possibility is discussed of a direkt mechanism of action of the drug on the metabolism of the involved amino acids.
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PMID:[Clinical aspects of cystinuria and its treatment by thiola (author's transl)]. 96 Jul 6

We report a retrospective study of 51 children who presented urolithiasis between 1980 and 1989 in our Hospital. Mean age was 7 years and the male:female ratio was 2. 1:1. A positive family history was found in 60% of cases. It was done metabolic evaluation in every case: hypercalciuria was found in 34% of cases. In 6% of cases there were hyperuricosuria. None of our patients presented hyperoxaluria, cystinuria or hypocitraturia. Abdominal echography was the most sensible an specific imaging technique of diagnosis. In 16 cases it was necessary a surgical procedure although most cases received only medical management. Four patients were treated with extracorporeal shock-wave lithotripsy. We emphasize the importance of metabolic evaluation. We report our own protocol of study and results.
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PMID:[Urolithiasis in childhood]. 177 65

A 10-month-old male Siamese cat with dysuria was determined to have cystine crystalluria. Many small calculi composed entirely of cystine were found in the urinary bladder. Measurement of serum and urine amino acids and calculation of fractional reabsorption of amino acids indicated reabsorption defects for cystine, ornithine, lysine, and arginine. Urinary acidification, fractional reabsorption of glucose, and fractional reabsorption of electrolytes were normal. Diagnoses of cystinuria and cystine urolithiasis were made on the basis of low fractional reabsorption of cystine and dibasic amino acids and the detection of cystine calculi in the urinary bladder.
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PMID:Cystinuria in a cat. 199 60

Cystinuria is an hereditary disorder of renal and intestinal transport characterized by the excessive urinary excretion of cystine, arginine, lysine, and ornithine. It is inherited as a common recessive gene with allelic mutations. Complementary studies of the plasma response to oral cystine loading, intestinal mucosal transport patterns, and urine cystine excretion allow separation of homozygous cystinuric subjects into three groups. In type I, the most common form, there is no active transport of cystine or dibasic amino acids across the mucosal gradient, and heterozygous subjects show normal urine cystine values. Type II is characterized by markedly reduced or absent intestinal transport of cystine. Heterozygotes for type II show significantly elevated urine cystine but less than is seen in homozygotes. In type III there is diminished, although demonstrable, intestinal absorption of cystine and dibasic amino acids. Urine cystine in heterozygotes is intermediate between types I and II. Urolithiasis with its attendant complications is the sole clinical manifestation of cystinuria and is due to the relative insolubility of cystine in the urine. The urolithiasis may become clinically manifest at any time from infancy through the ninth decade, although the mean age is the second to third decade. Clinical presentation is similar to that of other types of urolithiasis. Although cystinuria accounts for only 1% to 2% of all urolithiasis and 6% to 8% of urolithiasis in pediatric populations, repeated stone formation in affected patients often causes considerable morbidity. Cystine crystals in the urine are diagnostic but show up in only 19% to 26% of homozygous cystinuric patients. Sodium cyanide nitroprusside is a suitable screening test that should identify homozygous stone formers but will not detect all heterozygotes. A positive screening test should be followed by quantitation of urinary amino acids. A homozygous patient can be functionally defined as one who excretes 250 mg or more of cystine/g of creatinine in a 24-hour urine collection. Other causes of excess urinary cystine must be excluded. Medical therapy will be directed toward dissolution of existing calculi and prevention of new stone formation. Increasing urine volume by generous oral fluid intake is beneficial. Dietary sodium restriction has a favorable effect on urinary cystine excretion. Cystine solubility can be improved by urinary alkalinization and where necessary by the administration of thiol chelators, particularly D-penicillamine or mercaptopropionylglycine. Because these chelators have significant adverse effects, they should be reserved for patients who do not respond to a more conservative program. Patients with infected, symptomatic, or obstructing stones require surgical intervention.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Cystinuria. 208 17

A 26-year-old male with nephrotic syndrome (NS) due to alpha-mercaptopropionyl glycine (MPG) is described. In March, 1988, he was diagnosed as having familial cystinuria after receiving urolithiasis treatment since December, 1985. Massive proteinuria and slight pedal edema were noted. Nephrotic syndrome was suggested and renal biopsy was performed. The renal pathological finding demonstrated membranous glomerulonephritis (MN) at stage I. This case was defined as NS clinically associated with MPG, and glucocorticoid intake was initiated. The response to the glucocorticoids was fairly good with no clinical problems after discontinuation of MPG, and the cystinuria was maintained with alkaline medication. The patient's parents and younger brother were suggested and confirmed to have cystinuria based on urinary aminogram analysis, but displayed no symptoms. We present a rare case of NS due to MPG therapy in a patient with familial cystinuria. However, the mechanism of onset remains unclear.
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PMID:A case of nephrotic syndrome due to alpha-mercaptopropionyl glycine in a patient with familial cystinuria. 225 Apr 12


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