|1.||Hepatolenticular Degeneration (Wilson's Disease)
|4.||Urinary Calculi (Urinary Calculus)
|1.||Goldfarb, David S: 11 articles (08/2015 - 04/2005)|
|2.||Palacín, Manuel: 9 articles (01/2015 - 09/2002)|
|3.||Eggermann, Thomas: 7 articles (01/2014 - 01/2002)|
|4.||Zorzano, Antonio: 7 articles (07/2010 - 09/2002)|
|5.||Palacín, M: 7 articles (01/2005 - 01/2000)|
|6.||Daudon, Michel: 6 articles (05/2015 - 01/2004)|
|7.||Nunes, Virginia: 6 articles (01/2015 - 10/2002)|
|8.||Bisceglia, L: 6 articles (01/2012 - 01/2000)|
|9.||Dello Strologo, Luca: 5 articles (02/2014 - 10/2002)|
|10.||Zerres, Klaus: 5 articles (01/2012 - 10/2002)|
|1.||Penicillamine (Cuprimine)FDA Link
01/01/1993 - "Long-term D-penicillamine treatment can be used in patients with cystinuria and is both effective and safe. "
11/01/1981 - "We conclude that D-penicillamine is useful in the treatment of cystinuria. "
11/01/1981 - "A retrospective study was conducted to assess the efficacy of D-penicillamine in the management of cystinuria, as well as to define the frequency and nature of untoward reactions to this drug. "
12/01/2008 - "We reviewed the charts of all 11 children with cystinuria treated at our clinic using a gradual dose escalation of penicillamine. "
12/01/2008 - "We evaluated the effects of penicillamine in preventing stone formation and with respect to toxicity in our cystinuria cohort at a pediatric biochemical genetics clinic. "
06/01/1996 - "Genetic linkage analysis with markers of the genomic region of rBAT in chromosome 2 (G band 2p16.3) and intragenic markers of rBAT have demonstrated genetic heterogeneity for cystinuria; the rBAT gene is linked to type I cystinuria, but not to type III. Biochemical, genetic and clinical studies are needed to identify the additional cystinuria genes; a low-affinity cystine reabsortion system and the putative light subunit of rBAT are additional candidate genes for cystinuria. "
05/07/2015 - "Cystinuria is an autosomal recessive disorder affecting renal cystine reabsorption; it causes 1% and 8% of stones in adults and children, respectively. "
05/01/2015 - "More recently, we demonstrated CDME's efficacy in inhibiting L-cystine crystal growth in vivo utilizing a murine model of cystinuria. "
01/01/2014 - "Most of 129S2/SvPasCrl exhibited pathognomonic cystine crystals in urine and an aminoaciduria profile similar to that of patients with cystinuria. "
11/01/2013 - "To determine urinary cystine concentrations, inheritance, and mutations in the SLC3A1 and SLC7A9 genes associated with cystinuria in 3 breeds. "
|3.||Captopril (Capoten)FDA LinkGeneric
07/01/1995 - "We determined the clinical efficacy of captopril for the prevention of new or stone growth in patients with homozygous cystinuria. "
07/01/1995 - "Although statistical significance was not evident for the group as a whole (p = 0.35), our findings suggest that captopril may be clinically efficacious in at least some patients with difficult to control cystinuria. "
04/01/1995 - "The treatment of cystinuria with captopril."
05/01/1993 - "Captopril should be considered an alternative to traditional drug management of cystinuria."
05/01/1993 - "Successful treatment of cystinuria with captopril."
|4.||Amino AcidsFDA Link
01/01/1974 - "Renal clearance of amino acids in canine cystinuria."
07/01/1967 - "The renal clearance of amino acids in cystinuria."
01/01/1998 - "In the preliminary study we assayed by quantitative determination of amino acids 162 urine samples from a hospital population identifying 24 type III heterozygotes and 2 type II heterozygotes for cystinuria. "
05/01/1956 - "[Chromatographic study of amino acids in the urine in familial cystinuria]."
09/01/2004 - "Cystinuria ia an inheritable autosomal recessive disorder of amino acids transport affecting the epithelial cells of the renal tubules and gastrointestinal tract. "
|5.||Ascorbic Acid (Vitamin C)FDA LinkGeneric
01/01/1992 - "There is no convincing evidence for the efficacy of high dose ascorbic acid treatment in cystinuria."
01/01/1991 - "Investigations of the efficacy of ascorbic acid therapy in cystinuria."
01/01/1991 - "We investigated ascorbic acid therapy for cystinuria in a study of seven healthy control persons and seven cystinuric patients. "
05/01/2000 - "Medical treatment of cystinuria with vitamin C."
01/01/1982 - "Therefore a vitamin C therapy for cystinuria is developed. "
|6.||Lysine (L-Lysine)FDA Link
09/01/1957 - "Renal clearance of lysine in cystinuria: pathogenesis and management of this abnormality."
12/01/2001 - "Gut lysine absorption was deficient in type II and III, and normal in type I cystinuria homozygotes. "
08/01/1994 - "This approach allowed separation of the various classes of IEM and achieved optimal separation of patients with cystinuria from those with oxalic aciduria; the principal metabolites responsible for this separation were determined as lysine and glyoxalate. "
01/01/1988 - "In a preliminary group of 9 children, enhanced lysine levels support the suspicion of the existence of cystinuria without clinical symptoms. "
02/01/1973 - "Lysine infusion in cystinuria: theoretical renal thresholds for lysine."
|7.||Phenobarbital (Luminal)FDA Link
05/01/1987 - "Apparent permeability coefficients were close to normal in cystinuria except that the efflux permeability at the luminal membrane was significantly increased (0.839 +/- 0.22 versus 0.186 +/- 0.12 X h-1 cm-2), and, accordingly, at the luminal membrane, the influx over efflux permeability ratio was small (1.01 +/- 0.50 versus 4.95 +/- 0.80, p less than 0.001). "
01/01/1983 - "This might be explained as follows: At low filtered loads the filtered amino acid in the tubular lumen in patients with cystinuria is not absorbed into the cell because of a transport defect of the luminal membrane of the tubular cell, causing a large amount of urinary amino acid excretion. "
05/01/2000 - "Cystinuria is a hereditary disorder of cystine and dibasic amino acid transport across the luminal membrane of renal proximal tubule and small intestine. "
12/01/1999 - "Mutations of the glycoprotein rBAT cause cystinuria type I, an autosomal recessive failure of dibasic amino acid transport (b(0,+) type) across luminal membranes of intestine and kidney cells. "
12/01/1999 - "Luminal heterodimeric amino acid transporter defective in cystinuria."
|8.||Basic Amino Acids (Basic Amino Acid)IBA
09/15/1995 - "Mutations of the basic amino acid transporter gene associated with cystinuria."
09/01/1995 - "One aspect is the role of the basic amino acid transporter gene in causing cystinuria, its functional properties, and its potential transport functions. "
07/01/2010 - "Cystinuria is a primary inherited aminoaciduria caused by mutations in the genes that encode the two subunits (neutral and basic amino acid transport protein rBAT and b(0,+)-type amino acid transporter 1) of the amino acid transport system b(0,+). "
11/01/2005 - "Cystinuria has been proposed as an inherited disease causing disorders in renal cystine and basic amino acid transport in the proximal tubules. "
05/01/2001 - "Cystinuria has been proposed to be an inherited defect of apical membrane transport systems for cystine and basic amino acids in renal proximal tubules. "
11/01/2009 - "The inclusion criteria for the metabolic investigation included the absence of urological manipulation 30 days before the examination, negative urine culture and creatinine clearance > 60 mL/min. The protocol for metabolic investigation consisted of qualitative search for cystinuria. "
09/01/1996 - "Urinary cystine excretion exceeding 250 mg/g creatinine is usually diagnostic of homozygous cystinuria. "
01/01/1994 - "Urinary cystine excretion exceeding 250 mg/g creatinine is usually diagnostic of homozygous cystinuria. "
08/01/2006 - "Laboratory investigation of hypercalciuria, hyperuricosuria, hyperoxaluria, cystinuria, hypocitraturia, renal tubular acidosis, urinary tract infection and reduction of urinary volume is based on the results of 24-hr urine collection and a spot urine for urinary sediment, culture and pH. Blood analysis for creatinine, calcium and uric acid must be obtained. "
05/01/1987 - "In cystinuria, renal clearance of cystine frequently exceeds creatinine clearance, suggesting net cystine secretion; and absorption of the (di)basic amino acid is impaired at the luminal membrane of the jejunal and probably also renal tubular epithelium. "
|10.||Sodium Bicarbonate (Baking Soda)FDA LinkGeneric
11/01/2000 - "Clinical management of cystinuria can be improved by direct measurement of cystine solubility because it varies widely at any given pH. Increasing 24-hour collection pH with sodium bicarbonate additionally improves accuracy of supersaturation measurement by recovering crystallized cystine."
10/01/2001 - "A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria."
01/01/1981 - "A new therapy for cystinuria may be the combined application of ascorbic acid and sodium hydrogen carbonate."
01/01/1979 - "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. "
|1.||Lithotripsy (Extracorporeal Shockwave Lithotripsy)
06/01/2006 - "First, to compare two types of stone formers (SF), those with cystinuria and those without, for effects of treatments for stones, as cystinuria leads to recurrent stones that are difficult to fragment with shock-wave lithotripsy, and there is disagreement about the efficacy of current treatments. "
10/01/2013 - "A 23-year-old man and a 62-year-old man suffering from cystinuria underwent extracorporeal shock wave lithotripsy (ESWL) for right renal stone and left ureteral stone, respectively. "
09/01/2005 - "One patient with cystinuria and a renal pelvic stone measuring 14 mm required shock wave lithotripsy and percutaneous nephrostolithotomy. "
09/01/1989 - "Herein we describe our experience with a series of 10 patients with cystinuria and highlight the particular problems of the use of extracorporeal shock-wave lithotripsy (ESWL) to treat these types of stones and our resultant emphasis on percutaneous techniques."
02/01/2011 - "Herein, we report a 3-year-old boy with cystinuria resulting in recurrent nephrolithiasis requiring surgery and extracorporeal shock wave lithotripsy. "
|2.||Drug Therapy (Chemotherapy)
05/01/2014 - "Current cystinuria research is focused on methods of monitoring disease activity, novel drug therapies and genotype-phenotype studies. "
01/01/1995 - "Drug therapy in terms of prophylaxis of recurrent urolithiasis is known to be successful in inborn metabolic disturbances as cystinuria, primary hyperoxaluria, inborn errors of purine metabolism and calculi due to urinary infection. "
05/17/1974 - "Determination of cystine excretion by the nitroprusside method during drug therapy of cystinuria."
01/01/1993 - "Cystinuria and renal transplantation."
10/01/1983 - "Disappearance of cystinuria after kidney transplantation."
08/05/1983 - "Disappearance of cystinuria after renal transplantation."
05/05/1978 - "[Renal transplantation in cystinuria (author's transl)]."
03/01/2015 - "Renal transplantation offers a viable treatment option for those inborn errors of metabolism characterized by primary renal damage caused by dysfunction of a mutated protein, as in cystinuria. "
|4.||Sodium-Restricted Diet (Diet, Sodium Restricted)
03/01/1987 - "Cystinuria is reduced by low-sodium diets."
01/01/1995 - "These findings confirm that elimination of cystine is highly influenced by sodium intake in cystinuric children and suggest that a low sodium diet may play a key-role in the treatment of pediatric patients with cystinuria."
01/01/1995 - "We have studied the effect of a sodium-restricted diet on the urinary excretion of cystine in 13 patients with cystinuria, 7 of whom were treated with the SH compound tiopronin (2-mercaptopropionylglycine). "
07/01/1993 - "After initiation of medical treatment for cystinuria, 2 patients were discharged without further intervention, 1 was discharged after placement of a ureteric stent and 10 were treated with ESWL. "
04/01/1992 - "Multiple large cystine stones formed on an indwelling ureteral stent used in the medical management of a 12-year-old boy with obstructing renal stones and cystinuria. "