Cases reported "Cystinuria"

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1/3. Analysis of a 1-year-old cystinuric patient with recurrent renal stones.

    cystinuria is a hereditary disorder of cystine and dibasic amino acids (lysine, arginine, ornithine) transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. cystine stones frequently occur in the second or third decade of life with an occasional occurrence in infancy and in old age. Herein is presented the case of a 1-year-old girl with cystinuria and recurrent urolithiasis; the genetic basis of the disease was investigated by mutational analysis of the SLC3A1 gene. The data show that the present patient has an increased cystine (923.08 microg/mL) level and was heterozygote for M467T mutation.
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ranking = 1
keywords = nephrolithiasis
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2/3. captopril therapy of recurrent nephrolithiasis in a child with cystinuria.

    Traditional and current therapies for cystinuria have been difficult for patients, only partially effective, or associated with substantial risk of serious side effects. We present a case of cystinuria that has been managed for 1 year on captopril, with elimination of recurrent nephrolithiasis and with no observable morbidity.
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ranking = 5
keywords = nephrolithiasis
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3/3. Successful treatment of cystinuria with captopril.

    cystinuria is an autosomal recessive hereditary disorder associated with nephrolithiasis and its attendant complications. Traditional management aimed at increasing urinary cystine solubility using oral alkali, D-penicillamine, or mercaptopropionyglycine is often unsuccessful due to intolerable side effects. Two cystinuric patients intolerant of traditional therapy were treated with captopril for 1 year, resulting in a marked decline in urinary cystine excretion. Neither patient experienced recurrent nephrolithiasis or adverse drug effects. captopril should be considered an alternative to traditional drug management of cystinuria.
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ranking = 2
keywords = nephrolithiasis
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