Cases reported "Cystinuria"

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1/7. bardet-biedl syndrome and cystinuria.

    An unusual association of bardet-biedl syndrome with cystinuria was described in one patient. A 21-year-old male was admitted to hospital because of renal failure, severe deterioration of visual acuity, polydactyly, brachydactyly, and mental retardation. Laboratory investigations revealed a serum creatinine of 292 mumol/L (3.3 mg/dL) and a GFR of 25 mL/min per 1.73 m2. Quantitative ion exchange chromatography demonstrated an increased urinary excretion rate of cystine, lysine, arginine, and ornithine. The ophthalmologic examination showed a severe atypical retinal dystrophy. visual acuity was severely deteriorated and the patient could only count the examining physician's fingers. The patient had been previously evaluated at the age of 7 years for polyuria, polydipsia, and growth failure. His workup at that time demonstrated nephrogenic diabetes insipidus, normal GFR, and a urinary amino acid pattern consistent with the cystinuric phenotype. There was mental retardation notwithstanding the normal ophthalmologic examination. Intravenous pyelography showed calyceal clubbing, calyceal cysts, and lobulated renal outlines of the fetal type. The patient was evaluated again at the age of 13 years for deterioration of visual acuity and the ophthalmologic examination showed an atypical retinal dystrophy, with sparse pigmentation, central and peripheral atrophy, attenuated vessels, and marked optic disk pallor. To our knowledge the association of bardet-biedl syndrome with cystinuria has never been reported. It is unlikely that cystinuria may have contributed to the kidney damage. The possibility that mental retardation has been induced or aggravated by cystinuria cannot be excluded.
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2/7. Giant cystine stone in an infant bladder with no evidence of cystinuria--valence of possible pathomechanisms.

    Bladder calculi account for approximately 5% of all urinary calculi. Children are at high risk in endemic areas whereas otherwise the entity is rare. diet, voiding dysfunction and uncorrected anatomical abnormalities predispose to bladder stone formation. We report the case of a 2-year-old girl with a giant cystine bladder stone without relevant cystinuria and a small left kidney. Suprapubic cystolithotomy was performed for stone removal. We discuss possible associations of cystine calculi with unilateral genitourinary pathologies in the absence of persistent excess cystinuria.
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3/7. Percutaneous chemolitholysis of cystine stones. Possibilities for ambulatory procedure.

    We report on a patient with symptomatic cystine calculi in a solitary kidney in whom percutaneous pelviocaliceal irrigation with tromethamine-E was performed as an ambulatory procedure for a significant period of time. Our experience demonstrates that in selected cases this form of treatment is well-tolerated.
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4/7. Ureolytic citrobacter freundii infection of the urine as a cause of dissolution of cystine renal calculi.

    We report a case of cystinuria with staghorn renal lithiasis in a solitary right kidney and chronic renal failure. Right nephropyelolithotomy was performed and although 29 renal calculi were extracted many stones remained in situ. A permanent nephrostomy was left in the kidney. Several months later the urine was infected chronically with a ureolytic citrobacter freundii bacteria and urinary pH oscillated between 8.0 and 9.2. Spontaneous dissolution of the cystine calculi was observed and many tiny fragments of cystine were expulsed through the nephrostomy, following which renal function improved. Despite the conditions favoring struvite calculi, formation did not occur.
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5/7. Percutaneous catheter dissolution of cystine calculi.

    In 11 kidneys with presumed cystine stones that were symptomatic and obstructing, percutaneous nephrostomy and stone lavage with either acetylcysteine-bicarbonate solution or tromethamine-E were performed. There were 7 complete stone dissolutions: 2 of 6 attempts with acetylcysteine-bicarbonate alone, 3 of 5 with tromethamine-E, 1 partial with acetylcysteine-bicarbonate, which was completed with tromethamine-E, and 1 proved mixed stone (cystine and calcium phosphate) that required acetylcysteine-bicarbonate and hemiacidrin. In 1 case tromethamine-E irrigation was 97 per cent complete but a few tiny caliceal fragments remained. There were 3 failures of chemolysis: 2 pure cystine stones (1 each acetylcysteine-bicarbonate and tromethamine-E) and 1 mixed calculus with a surface shell of calcium oxalate. Irrigation time was 6 to 42 days for the 7 unoperated kidneys. tromethamine-E appears to be a more effective agent for cystine stone dissolution. Percutaneous nephrostomy and dissolution are an alternative to an operation in patients with cystine calculous disease.
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6/7. The renal spectrum.

    Renal diseases present with a wide array of symptoms. cystinuria is likely to appear in childhood. IgA nephropathy is commonly seen in young patients, and may be a problem in the young adult male with recurrent gross hematuria. Lupus erythematosus is more likely to attack females, particularly in young adulthood. Membranous glomerulonephritis, a frequent cause of nephrotic syndrome in older patients, may be a clue to the presence of tumor. Polycystic kidney disease may present over a wide age span, beginning with the fourth decade. End-stage renal disease has a characteristic clinical spectrum regardless of etiology.
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7/7. Prophylaxis of cystine calculi by low dose of alpha-mercapto-propionyl-glycine administered every other day.

    In a case of typical cystinuria type I with left kidney hypoplasia and bilateral calculosis, calculi were dissolved by means of alpha-mercapto-propionyl-glycine and prophylaxis of the calculosis was performed by the same drug continuously administered in two divided doses (10-4 mg.kg-1.day-1) for 9 years, without urolithiasis. Then, the alpha-mercaptopropionyl-glycine every other day in one dose, 4 mg.kg-1.day-1, for two years was administered without calculosis. The arbitrary discontinuation of the drug by the patient was followed after 6 months from a right ureteral calculosis with transitory renal insufficiency. In our case the administration of a low dose of alpha-mercapto-propionyl-glycine every other day was useful in cystine calculosis prophylaxis.
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