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A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria.

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For many years, urine alkalinization has been one of the cornerstones in the treatment of homozygous cystinuria. Because of the relationship found between the excretion of urinary sodium and cystine, potassium citrate has emerged as the preferred sodium-free alkalizing agent. To evaluate the

Cystinuria: cause of recurrent renal stones in a 4-year-old girl.

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This paper presents the case report of a 4-year and 6-month old girl with cystinuria. She clinically presented with recurrent radiopaque renal stones since the age of 3 years. She received 2 subsequent operations of pyelolithotomy combined with ureterolithotomy at the age of 3 years 6 months, and

[Cystinuria update: clinical, biochemical and genetic aspects].

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Cystinuria is an autosomal recessive disorder with an estimated incidence of 1 case in 7000 live births, that results in elevated urinary excretion of cystine and dibasic aminoacids: ornithine, lysine and arginine. Discussed by Sir Archibald Edward Garrod, in 1908, as one of the four first known

α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases.

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Cystinuria is an autosomal recessive disorder characterized by excessive urinary excretion of cystine, resulting in recurrent cystine kidney stones, often presenting in childhood. Current treatment options for cystinuria include dietary and/or fluid measures and potassium citrate to reduce cystine

Cystinuria in arab countries.

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Recent advances in molecular biology have provided new insights into the pathophysiology and genetics of cystinuria. It is expected that future development will be based on molecular and gene therapy. Until then, the therapy in cystinuric patients remains a difficult task and the goal should be the

An uncommon cause of acute kidney injury in young children: cystinuria.

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Bilateral obstructive nephrolithiasis is a rare cause of acute kidney injury (AKI) in early childhood. As soon as the identification of AKI secondary to ureteral stone is made, it will necessitate an emergency treatment. METHODS We report three infants with AKI caused by bilateral obstructive

Treatment of cystinuria.

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Cystine urolithiasis is the only clinical expression of cystinuria, an autosomal recessive genetic defect of the transepithelial transport of cystine and other dibasic amino acids in the kidney. Stones form due to the increased excretion of cystine, which is poorly soluble at normal urine pH.

Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis.

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A significant study from the USA compares cystine stone formers and routine stone formers; the former group had a higher requirement for therapeutic procedures, but this was less if they took chelating agents, although remaining higher than in the latter group. Other interesting findings are also

Cystinuria: clinical practice recommendation

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Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to formation of cystine stones due to its low solubility at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow

Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France.

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To evaluate medical treatments, in terms of adverse events (AEs) and therapeutic goals, in a large series of patients with cystinuria.Data from 442 patients with cystinuria were recorded retrospectively. Crystalluria was studied in 89 patients. A

Cystinuria in the maned wolf of South America.

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Of 42 maned wolves in zoos or live-trapped in Brazil, 34 had excessive cystine in their urine. Renal clearance studies of five of the affected wolves revealed a variable defect for the reabsorption of cystine and dibasic amino acids. The renal tubular handling of other solutes including glucose,

Cystinuria in a maned wolf.

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A renal calculus composed principally of the amino acid, cystine, was found in an 8-year-old male maned wolf (Chrysocyon brachyurus). Cystine crystals were found in the urine sediment. The renal clearance of 10 amino acids was abnormal, whereas reabsorption of others was normal. The renal clearance

[Nephrolithiasis of adult: From mechanisms to preventive medical treatment].

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Nephrolithiasis is a very common (prevalence around 10 to 12% in France) and recurrent disorder. Nephrolithiasis is associated to chronic kidney disease and is responsible for 2 to 3% of cases of end-stage renal disease, mainly if it is associated to nephrocalcinosis or to a monogenic disorder (1.6%

Acute renal failure due to bilateral pieloureteral stone impaction in a 10-month-old boy.

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Urolithiasis (UL) can present with its classic signs and symptoms, such as flank or abdominal pain and gross hematuria. However, atypical complaints can be more common in younger children. We report here a case of bilateral ureteropelvic junction (UPJ) stones in a 10-month-old boy who only showed

Problem in analyzing cystine stones using FTIR spectroscopy.

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Cystine stones are produced by an inherited disorder of the transport of amino acid cystine that results in excess of cystine in the urine (cystinuria). Cystine calculi in urinary tract present a significant problem in patients. We have recorded that cystine calculi are very uncommon in our region.

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