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.
| Excerpt | Reference |
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| "Cystinuria is an inherited disorder of amino acid transport affecting the epithelial cells of the renal tubules and the gastro-intestinal tract." | ( Gründig, E; Latal, D; Müller, M; Zechner, O, 1976) |
| "(3) Cystinuria is described as a nephrolithogenic proximal tubulopathy." | ( Hess, B; Jaeger, P, 1991) |
| "Cystinuria is an inherited condition affecting the active transport of the diamino acids cystine, ornithine, lysine and arginine across the renal tubule and the small intestine." | ( Stephens, AD, 1989) |
| "Cystinuria is a rare cause of renal calculi, accounting for about 1 percent of cases." | ( Castaneda-Zuniga, W; Hernandez-Graulau, JM; Hulbert, JC; Hunter, D, 1989) |
| "Cystinuria is characterized by cystine stone formation and loss of renal function." | ( Izzo, JL; Sloand, JA, 1987) |
| "Cystinuria is an inherited metabolic disease resulting in renal stone formation." | ( Feld, RD, 1988) |
| "Type I cystinuria is more common, as well in the homozygous state, as in combination to type II or III (compound heterozygous genotypes)." | ( De Parscau, L; Guibaud, P; Nissiotou, J; Parchoux, B; Vianey-Liaud, C, 1988) |
| "Cystinuria is a complex hereditary disorder characterized by excessive urinary excretion of cystine." | ( Pahira, JJ, 1987) |
| "Cystinuria is a recessively inherited transport disorder, with at least three mutant alleles (I, II, and III) demonstrable." | ( Ferrari, I; Giugliani, R; Greene, LJ, 1985) |
| "Cystinuria is measured by automatic analyser chromatography." | ( Bec, P; Lacombe, JL; Malha, F; Pujo, JM, 1984) |
| "The frequency of cystinuria is in the order of 1:10,000." | ( Asper, R; Schmucki, O, 1982) |
| "Cystinuria is an autosomal recessive amino-aciduria where three urinary phenotypes have been described (I, II, and III)." | ( Beccia, E; Bisceglia, L; Calonge, MJ; de Sanctis, L; Estivill, X; Rousaud, F; Testar, X; Volpini, V; Zelante, L; Zorzano, A, 1995) |
| "Cystinuria is an inherited disorder of cystine and dibasic amino acids involving renal and intestinal transport mechanisms." | ( Sakhaee, K, 1994) |
| "Cystinuria is an autosomal recessive disorder of amino acid transport." | ( Aksentijevich, I; Arber, N; Gruberg, L; Harel, D; Katz, G; Liberman, U; Pras, E; Prosen, L; Schapiro, JM; Weissenbach, J, 1994) |
| "Cystinuria is a classic heritable aminoaciduria that involves the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine." | ( Calonge, MJ; Chillarón, J; Chillón, M; Dallapiccola, B; Di Silverio, F; Gallucci, M; Gasparini, P; Rousaud, F; Testar, X; Zelante, L, 1994) |
| "Cystinuria is an autosomal recessive hereditary disorder associated with nephrolithiasis and its attendant complications." | ( Buller, GK; Perazella, MA, 1993) |
| "Cystinuria is a rare cause of renal calculi, whose management presents a complex problem mainly due to the hardness and high recurrence rate of cystine stones." | ( Anezinis, PE; Cranidis, AI; Delakas, DS; Karayannis, AA; Livadas, CE, 1996) |
| "Cystinuria is an inheritable disorder of amino acid transport, transmitted as an autosomal recessive trait, Cystinuria is caused by defective transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and intestinal tract." | ( Sakhaee, K, 1996) |
| "Cystinuria is a common inherited aminoaciduria that leads to recurrent cystine nephrolithiasis." | ( Carlson, J; Denneberg, T; Endsley, JK; George, AL; Hruska, KA; Phillips, JA, 1997) |
| "Cystinuria is easily detectable and can be investigated either systematically or only in the families concerned." | ( Guiter, J; Navratil, H; Rakotomalala, E; Robert, M, 1998) |
| "Cystinuria is a major risk factor for cystine stone formation." | ( Bani Hani, I; Matani, Y; Smadi, I, 1998) |
| "Cystinuria is an autosomal recessive disorder, and primary manifestation is the repeated formation of cystine calculi." | ( Asanuma, H; Kawamura, T; Nagakura, K; Nakai, H; Shishido, S; Takeda, M; Yamafuji, M, 1998) |
| "Cystinuria is an autosomal-recessive disorder of the kidneys and small intestine affecting a luminal transport mechanism shared by cystine, ornithine, arginine, and lysine." | ( Cabello, ML; Corella, D; García, AM; Guillén, M; Hernández-Yago, J, 1999) |
| "Cystinuria is an autosomal recessive disorder characterized by a defect in intestinal and renal tubular transport of dibasic amino acids which results in excessive urinary excretion of cystine." | ( Ng, CS; Streem, SB, 1999) |
| "Cystinuria is an inherited disorder of cystine and dibasic amino acids transport that results in urolithiasis because of poor cystine solubility." | ( Bisceglia, L; Bonetti, G; Bruno, M; De Luca, F; de Sanctis, L; Dianzani, I; Palacin, M; Ponzone, A, 2001) |
| "Cystinuria is an autosomal recessive disorder of dibasic amino acid transport in the kidney that leads to an abundance of cystine in the urine." | ( Albala, DM; Auge, BK; Delvecchio, FC; Mathias, B; Pietrow, P; Preminger, GM; Silverstein, AD; Weizer, AZ, 2003) |
| "Cystinuria is a rare hereditary gene disorders with impaired tubular reabsorption of cystine." | ( Hess, B; Hochreiter, W; Knoll, T, 2003) |
| "Cystinuria is an autosomal recessive defect in transepithelial transport of dibasic amino acids (e." | ( Bilińska, W; Chilarski, A; Nowicki, M; Olejniczak, D; Rogowska-Kalisz, A, 2003) |
| "Cystinuria is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in urolithiasis of cystine." | ( Arbonés, ML; Chillarón, J; Feliubadaló, L; Mañas, S; Nunes, V; Palacín, M; Rodés, M; Rousaud, F; Visa, J; Zorzano, A, 2003) |
| "Cystinuria is a genetic defect that may result in the formation of recurrent cystine calculi." | ( Purohit, RS; Stoller, ML, 2004) |
| "Cystinuria is an inherited disorder of luminal reabsorptive transport for cystine and dibasic amino acids in the renal proximal tubule." | ( Boutros, M; Goodyer, P; Rozen, R; Vicanek, C, 2005) |
| "Cystinuria is a recessively inherited aminoaciduria that leads to recurrent urolithiasis." | ( Chan, KY; Chan, SY; Chan, YW; Cheng, CW; Kwan, EY; Lai, CK; Lam, CW; Li, PS; Mak, WL; Tam, S; Tong, SF; Tsang, WK; Yuen, YP, 2006) |
| "The treatment of cystinuria is hampered by methods used to measure urinary lithogenicity." | ( Asplin, JR; Coe, FL; Goldfarb, DS, 2006) |
| "Cystinuria is an autosomal recessive disorder in renal tubular and intestinal transport of dibasic amino acids, which results in increased urinary excretion of cystine, ornithine, lysine and arginine." | ( Ahmed, K; Dasgupta, P; Khan, MS, 2006) |
| "Cystinuria is a hereditary disorder caused by a defect in the apical membrane transport system for cystine and dibasic amino acids in renal proximal tubules and intestine, resulting in recurrent urolithiasis." | ( Aranda, J; Clèries, R; Colell, G; Espino, M; Feliubadaló, L; Font-Llitjós, M; Frey, IM; Mañas, S; Nunes, V; Palacín, M; Palomo, S; Puertas, S; Visa, J, 2007) |
| "Cystinuria is a rare hereditary disease resulting in recurrent stone formation and the need for repeated invasive interventions." | ( Alken, P; Bolenz, C; Knoll, T; Michel, MS; Sagi, S; Wendt-Nordahl, G, 2008) |
| "Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and the gastrointestinal epithelium." | ( Goldfarb, DS; Mattoo, A, 2008) |
| "cystinuria is a severe form of renal which is exposed the patient at multiple recurrent." | ( Abdelmoula, J; Belhadj, R; Chebil, M; Marrakchi, O; Mohsni, A; Zerelli, L, 2008) |
| "Cystinuria is recognized on the basis of spectrophotometric analysis of the stones (24/1586), by study of urinary crystals completed with brands test (5 cases) or by the two types of explorations." | ( Abdelmoula, J; Belhadj, R; Chebil, M; Marrakchi, O; Mohsni, A; Zerelli, L, 2008) |
| "the frequence of cystinuria is 1." | ( Abdelmoula, J; Belhadj, R; Chebil, M; Marrakchi, O; Mohsni, A; Zerelli, L, 2008) |
| "Cystinuria is reportedly a rare condition affecting the stone patients in India." | ( Marickar, YM, 2009) |
| "Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis." | ( Hwang, JS; Kim, SH; Kim, YH; Lee, EH, 2010) |
| "Cystinuria is an inherited disorder characterized by the impaired reabsorption of the dibasic amino acid, cystine, in the proximal tubule of the nephron." | ( Asplin, JR; Herrell, SD; Lambert, EH; Miller, NL, 2010) |
| "Cystinuria is an autosomal recessive disorder characterized with abnormal tubular reabsorption of cystine and dibasic amino acids leading to cystine urolithiasis." | ( Gucev, Z; Lozanovski, VJ; Ristoska-Bojkovska, N; Sahpazova, E; Tasic, V, 2011) |
| "Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule." | ( Alves, S; Barbosa, M; Bisceglia, L; Cardoso, ML; De Bonis, P; Dias, C; Fortuna, AM; Lacerda, L; Lopes, A; Martins, E; Mota, C; Mota, Mdo C; Oliveira, J; Quelhas, D; Rodrigues-Santos, P, 2012) |
| "Cystinuria is a relatively uncommon cause of pediatric stone disease, but has significant morbidity if not properly controlled because of its significant stone recurrence rate." | ( Claes, DJ; Jackson, E, 2012) |
| "Cystinuria is an inherited disease that consists of congenital abnormalities of renal and intestinal transport of dibasic amino acids." | ( Armillotta, N; Cupisti, A; Farnesi, I; Francesca, F, 2012) |
| "Cystinuria is an autosomal recessive disease caused by mutations in SLC3A1 (rBAT) and SLC7A9 (b(0,+)AT)." | ( Artunc, F; Cantone, A; Capasso, G; Closs, EI; Daniel, H; Di Giacopo, A; Font-Llitjós, M; Frey-Wagner, I; Gehring, N; Jaenecke, I; Lang, F; Mohebbi, N; Nunes, V; Palacín, M; Rexhepaj, R; Rubio-Aliaga, I; Stange, G; Wagner, CA, 2013) |
| "Cystinuria is a genetic cause of recurrent kidney stones which may be more recurrent and larger than more common non-cystine stones." | ( Goldfarb, DS; Grasso, M; Modersitzki, F; Pizzi, L, 2014) |
| "Cystinuria is an autosomal recessive disease that causes L-cystine precipitation in urine and nephrolithiasis." | ( Bellomo, F; Bertucci, P; Boenzi, S; Dello Strologo, L; Dionisi-Vici, C; Emma, F; Laurenzi, C; Masotti, A; Muraca, M; Pastore, A; Taranta, A, 2014) |
| "Cystinuria is a genetic disease marked by recurrent kidney stone formation, usually at a young age." | ( Goldfarb, DS; Lee, MH; Sahota, A; Ward, MD, 2015) |
| "Cystinuria is associated with a high rate of surgical intervention and lower QoL than the general public." | ( Desai, D; Parr, JM; Winkle, D, 2015) |
| "Cystinuria is a rare cause of urolithiasis." | ( Nakada, SY; Penniston, KL; Streeper, NM; Wertheim, ML, 2017) |
| "Cystinuria is the commonest inherited cause of nephrolithiasis (~1% in adults; ~6% in children) and is the result of impaired cystine reabsorption in the renal proximal tubule." | ( Maréchal, A; Moochhala, SH; Oliver, KV; Rich, PR; Unwin, RJ; Vilasi, A, 2016) |
| "Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis." | ( Cheong, HI; Ha, IS; Hyun, HS; Kang, HG; Kim, GH; Kim, JH; Lee, BH; Lee, JH; Park, E; Park, YS, 2017) |
| "Cystinuria is an incompletely dominant disorder characterized by defective urinary cystine reabsorption that results in the formation of cystine-based urinary stones." | ( Beck, JN; Bose, N; Chi, T; Damodar, S; Gerona, RR; Hall, D; Kahn, A; Kapahi, P; Killilea, DW; O'Leary, MN; Parihar, J; Ramanathan, A; Sahota, A; Stoller, ML; Tischfield, J; Yang, M; Yang, S; Zee, J; Zee, T, 2017) |
| "Cystinuria is a genetic disorder marked by elevated urinary cystine excretion and recurrent cystine nephrolithiasis." | ( Chi, T; Hsi, RS; Hudnall, M; Sherer, B; Stoller, M; Taguchi, K; Tzou, DT; Usawachintachit, M, 2018) |
| "Patients with cystinuria are often treated with medical alkalization and shock wave lithotripsy, although each treatment is hypothesized to increase the risk of calcium phosphate stones." | ( Ardekani, GS; Batter, H; Chew, BH; Eisner, B; Krambeck, AE; Monga, M; Pais, VM; Reinstatler, L; Rivera, M; Scotland, KB; Stern, K, 2018) |
| "Cystinuria is a rare inherited renal stone disease caused by mutations in the SLC3A1 and SLC7A9 genes." | ( Li, D; Li, XY; Liu, YP; Ma, YY; Song, JQ; Yang, YL, 2018) |
| "Cystinuria is an inherited disease characterized by increased urinary cystine excretion and recurrent cystine stones." | ( Bai, Y; Cao, D; Han, P; Tang, Y; Wang, J; Wang, X; Wang, Z, 2021) |
| "Cystinuria is an autosomal recessive disorder characterized by excessive urinary excretion of cystine, resulting in recurrent cystine kidney stones, often presenting in childhood." | ( Cil, O; Perwad, F, 2020) |
| "Cystinuria is the most common cause of inherited stone disease and is caused by the failure of absorption of filtered dibasic amino acids including cystine in the proximal tubules." | ( Biyani, CS; Daga, S; Dimitrova, AB; Forster, JA; Joyce, AD; Palit, V, 2021) |
| "Cystinuria is the most common monogenic nephrolithiasis disorder." | ( Courbebaisse, M; Daudon, M; Defazio, J; Dousseaux, MP; Knebelmann, B; Prot-Bertoye, C; Tostivint, I; Traxer, O, 2021) |
| "Cystinuria is an autosomal recessive disorder characterized by a decrease in the reabsorption of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the renal proximal tubule." | ( Ariji, S; Hattori, M; Ikeyama, S; Kanda, S; Miura, K; Nogi, A; Ono, M; Sakamoto, S; Sakoda, A; Shimoda, M; Takahashi, K; Yokoyama, S; Yokoyama, Y; Yoneda, R, 2022) |
| "Cystinuria is the most common genetic cause of nephrolithiasis in children." | ( Capolongo, G; D'Ambrosio, V; Ferraro, PM; Gambaro, G; Goldfarb, D, 2022) |
| "Cystinuria is a genetic disorder of cystine transport that accounts for 1-2% of all cases of renal lithiasis." | ( Chen, Z; Fang, X; Geng, H; Li, D; Li, Y; Liu, M; Xu, G; Xu, Y; Zhan, X; Zhang, X; Zhang, Z; Zheng, R, 2022) |
| "Cystinuria is a genetic disorder characterized by overexcretion of dibasic amino acids and cystine, causing recurrent kidney stones and kidney failure." | ( Kongpracha, P; Kühlbrandt, W; Lee, Y; Mills, DJ; Moriyama, S; Nagamori, S; Wiriyasermkul, P, 2022) |
| "Cystinuria is one of various disorders that cause biomineralization in the urinary system, including bladder stone formation in humans." | ( Basisty, N; Bose, N; Desprez, PY; Kapahi, P; Rose, J; Schilling, B; Stoller, M; Wehrfritz, C; Zee, T, 2022) |
| "Cystinuria is a genetically inherited disorder of renal and intestinal transport, featured as a high concentration of cystine in the urine." | ( Guan, Y; Hu, L; Li, X; Liu, L; Ren, Y; Xu, Z; Yan, X; Zhang, Y, 2022) |
| "Cystinuria is a genetically inherited disorder of renal and intestinal transport, featured as a high concentration of cystine in the urine." | ( Guan, Y; Hu, L; Li, X; Liu, L; Ren, Y; Xu, Z; Yan, X; Zhang, Y, 2022) |
| "Cystinuria is a genetically inherited disorder of renal and intestinal transport, featured as a high concentration of cystine in the urine." | ( Guan, Y; Hu, L; Li, X; Liu, L; Ren, Y; Xu, Z; Yan, X; Zhang, Y, 2022) |
| "Cystinuria is an autosomal recessive defect in re-absorptive transport of amino acids: cysteine, ornithine, arginine and lysine from renal proximal convoluted tubules leading to urinary excretion of these amino acids." | ( Bhatta, NK; Lamsal, M; Mishra, B; Pokhrel, A, 2023) |
| "Cystinuria is an inherited autosomal recessive disease of the kidneys of recurring nature that contributes to frequent urinary tract infections due to bacterial growth and biofilm formation surrounding the stone microenvironment." | ( Estes Bright, LM; Garren, MRS; Handa, H; Kumar, A; Manuel, J; Shome, A, 2023) |