Cystinuria

An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.

Also Known As:

Networked: 736 relevant articles (25 outcomes, 42 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hepatolenticular Degeneration (Wilson's Disease)
2.	Kidney Calculi (Kidney Stone)
3.	Rheumatoid Arthritis
4.	Lithiasis
5.	Urinary Calculi (Urinary Calculus)

Experts

1.	Goldfarb, David S: 17 articles (01/2021 - 04/2005)
2.	Palacín, Manuel: 10 articles (01/2016 - 09/2002)
3.	Sahota, Amrik: 9 articles (01/2022 - 03/2010)
4.	Eggermann, Thomas: 9 articles (10/2018 - 01/2002)
5.	Daudon, Michel: 8 articles (08/2022 - 01/2004)
6.	Nunes, Virginia: 8 articles (09/2021 - 10/2002)
7.	Thomas, Kay: 8 articles (07/2021 - 05/2014)
8.	Zorzano, Antonio: 7 articles (07/2010 - 09/2002)
9.	Palacín, M: 7 articles (01/2005 - 01/2000)
10.	Dello Strologo, Luca: 6 articles (01/2021 - 10/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cystinuria:

1.	Cystine (L-Cystine)IBA 02/01/2019 - "Our ongoing studies indicate that cystine diamides are effective in preventing cystine stone formation in the Slc3a1 knockout mouse model for cystinuria. " 10/11/2023 - "A total of 10 patients with cystinuria diagnosed with cystine stones in a single tertiary medical center (Severance Hospital, Seoul, Republic of Korea) from April 2000 to July 2023 were included in the study. " 12/01/2022 - "The goal of this study was to validate a novel high-performance liquid chromatography tandem mass spectrometry (HPLC-MS/MS) method for quantification of cystine in the urine of patients with cystinuria receiving a CBTD. " 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. " 11/13/2023 - "Cystinuria treatment may require a combined approach of high diuresis, alkalinization and pharmacological interventions with regular monitoring of urinary pH, cystine levels, cystine crystal volume and solubility. "
2.	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. "
3.	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]." 01/01/2022 - "Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria."
4.	Lysine (L-Lysine)FDA Link 09/01/1957 - "Renal clearance of lysine in cystinuria: pathogenesis and management of this abnormality." 11/01/2023 - "This case presented with a profile of cystinuria but with a very high increase in urinary lysine. " 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. "
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." 05/01/2000 - "Medical treatment of cystinuria with vitamin C." 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. " 01/01/1982 - "Therefore a vitamin C therapy for cystinuria is developed. "
6.	Captopril (Capoten)FDA LinkGeneric 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. " 07/01/1995 - "We determined the clinical efficacy of captopril for the prevention of new or stone growth in patients with homozygous 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."
7.	Arginine (L-Arginine)FDA Link 01/01/2022 - "Therefore, the "turn-on" fluorescence sensing of trace arginine can be realized, with a measured linear response range of 10-20,000 nM and a limit of detection as low as 7 nM. This method can be used for the detection of trace arginine in urine, which is conducive to the bedside diagnosis and rapid screening of cystinuria and other diseases. " 10/07/2019 - "A highly selective and sensitive fluorescent sensor based on Tb3+-functionalized MOFs to determine arginine in urine: a potential application for the diagnosis of cystinuria." 09/16/2002 - "Expressing the cystinuria-specific mutant A354T of b(o,+)AT in HeLa cells together with rBAT resulted in defective arginine uptake in whole cells, which was paralleled by the reconstituted b(o,+)AT activity. " 10/24/1960 - "[Reversible functional disorders of the renal tubules after the administration of arginine (functional cystinuria)]." 09/01/2023 - "Arginine (Arg) is considered a valuable biomarker for various diseases, including cystinuria, and its concentration level holds significant implications for human health. "
8.	Biomarkers (Surrogate Marker)IBA 01/01/2016 - "To determine the feasibility of crystalluria as a biomarker for stone disease in patients with cystinuria. " 09/01/2023 - "Arginine (Arg) is considered a valuable biomarker for various diseases, including cystinuria, and its concentration level holds significant implications for human health. " 09/01/2023 - "Rapid detection of the biomarker for cystinuria by a metal-organic framework fluorescent sensor." 01/01/2022 - "Arginine is considered as a biomarker of cystinuria and other diseases, and thus, it is of urgency to develop a simple and rapid method with high sensitivity and selectivity for arginine detection to meet the demand of on-site analysis and bedside diagnosis. " 10/07/2019 - "Interestingly, Tb3+@Cd-MOF was proven to be a very promising and highly selective and sensitive luminescent platform for the quantitative detection of arginine, which is the biomarker of cystinuria. "
9.	Thioctic Acid (Lipoic Acid)IBA 07/01/2022 - "In this article, we provide an overview of cystinuria with a special emphasis on medical treatment options including new agents such as alpha-lipoic acid." 01/01/2020 - "A recent study revealed efficacy of nutritional supplement α-lipoic acid (ALA) treatment in preventing kidney stones in a mouse model of cystinuria. " 01/01/2021 - "Tolvaptan and a-Lipoic acid were also tested in patients with cystinuria and resulted in reduction of recurrence. " 01/01/2020 - "α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases." 03/01/2017 - "We report that the nutritional supplement α-lipoic acid inhibits cystine stone formation in the Slc3a1-/- mouse model of cystinuria by increasing the solubility of urinary cystine. "
10.	ErgothioneineIBA 01/01/2023 - "These results support the need for clinical trials to test l-Ergothioneine as a new treatment for cystinuria." 01/01/2023 - "In this study, the antioxidant l-Ergothioneine was evaluated, at two different doses, as a preventive and long-term treatment for cystinuria in the Slc7a9-/- mouse model. " 09/07/2021 - "We analyzed blood and urine levels of the natural antioxidant L-ergothioneine in a Type B cystinuria mouse model, and urine levels of its metabolic product S-methyl-L-ergothioneine, in both male and female mice at two different ages and with different lithiasic phenotype. " 09/07/2021 - "S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model." 01/01/2023 - "The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria."

Therapies and Procedures

1.	Therapeutics 01/01/1989 - "Traditional and current therapies for cystinuria have been difficult for patients, only partially effective, or associated with substantial risk of serious side effects. " 02/01/2019 - "Four mouse models for cystinuria have been described and these models provide a resource for evaluating the safety and efficacy of new therapies for cystinuria. " 02/01/2019 - "Thus, there is a need to reduce or eliminate the risks associated with therapy for cystinuria. " 02/01/2019 - "Cystinuria: genetic aspects, mouse models, and a new approach to therapy." 01/01/2019 - "Re: Cystinuria: Genetic Aspects, Mouse Models, and a New Approach to Therapy."
2.	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. "
3.	Drug Therapy (Chemotherapy) 05/01/2014 - "Current cystinuria research is focused on methods of monitoring disease activity, novel drug therapies and genotype-phenotype studies. " 08/01/2020 - "The evidence on benefit of additional drug therapy in patients with cystinuria is scarce. " 08/01/2020 - "To systematically review the effect of additional drug therapy as metaphylaxis in patients with cystinuria. " 08/01/2020 - "The effect of additional drug therapy as metaphylaxis in patients with cystinuria: a systematic review." 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. "
4.	Kidney Transplantation 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. "
5.	Sodium-Restricted Diet (Diet, Sodium Restricted) 03/01/1987 - "Cystinuria is reduced by low-sodium diets." 07/01/1989 - "Cystinuria, inherited as an autosomal recessive disorder is best treated with a low sodium diet, a fluid intake exceeding 40 ml/kg per day maintaining urine pH between 7.5 and 8 and, if necessary, with oral penicillamine. " 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). "