Alpha lipoic acid as a novel therapeutic approach to cystinuria

References

• Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, et al. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet. 2005;42:58–68.
   PubMed Web of Science ®Google Scholar
• Palacín M, Borsani G, Sebastio G. The molecular bases of cystinuria and lysinuric protein intolerance. Curr Opin Genet Dev. 2001;11:328–335.
   PubMed Web of Science ®Google Scholar
• Milliner DS, Murphy ME. Urolithiasis in pediatric patients. Mayo Clin Proc. 1993;68:241–248.
   PubMed Web of Science ®Google Scholar
• Scales CD, Smith AC, Hanley JM, et al. Prevalence of kidney stones in the United States. Eur Urol. 2012;62:160–165.
   PubMed Web of Science ®Google Scholar
• Prot-Bertoye C, Lebbah S, Daudon M, et al. CKD and its risk factors among patients with cystinuria. Clin J Am Soc Nephrol. 2015;10:842–851.
   PubMed Web of Science ®Google Scholar
• Assimos DG, Leslie SW, Ng C, et al. The impact of cystinuria on renal function. J Urol. 2002;168:27–30.
   PubMed Web of Science ®Google Scholar
• Purohit RS, Stoller ML. Stone clustering of patients with cystine urinary stone formation. Urology. 2004;63:630- 4-5.
   PubMed Web of Science ®Google Scholar
• Fernández E, Carrascal M, Rousaud F, et al. rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney. Am J Physiol Renal Physiol. 2002;283:F540–F548.
   PubMed Web of Science ®Google Scholar
• Wang W, Gu W, Tang X, et al. Molecular cloning, tissue distribution and ontogenetic expression of the amino acid transporter b(0,+) cDNA in the small intestine of Tibetan suckling piglets. Comp Biochem Physiol B Biochem Mol Biol. 2009;154:157–164.
   PubMed Web of Science ®Google Scholar
• Calonge MJ, Gasparini P, Chillarón J, et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet. 1994;6:420–425.
   PubMed Web of Science ®Google Scholar
• Sumorok N, Goldfarb DS. Update on cystinuria. Curr Opin Nephrol Hypertens. 2013;22:427–431.
   PubMed Web of Science ®Google Scholar
• Dent CE, Senior B. Studies on the treatment of cystinuria. Br J Urol. 1955;27:317–332.
   PubMedGoogle Scholar
• Dent CE, Friedman M, Green H, et al. Treatment of cystinuria. Br Med J. 1965;1:403–408.
   PubMed Web of Science ®Google Scholar
• Mattoo A, Goldfarb DS. Cystinuria. Semin Nephrol. 2008;28:181–191.
   PubMed Web of Science ®Google Scholar
• Varda BK, Johnson EK, Johnson KL, et al. Imaging and surgical utilization for pediatric cystinuria patients: a single-institution cohort study. J Pediatr Urol. 2016;12:106.e1–7.
   Web of Science ®Google Scholar
• Seaman E, Yagoda A, O’Toole KM. Squamous cell carcinoma of the renal pelvis associated with cystinuria. Anticancer Res. 1994;14:1361–1363.
   PubMed Web of Science ®Google Scholar
• Chillarón J, Font-Llitjós M, Fort J, et al. Pathophysiology and treatment of cystinuria. Nat Rev Nephrol. 2010;6:424–434.
   PubMed Web of Science ®Google Scholar
• Claes DJ, Jackson E. Cystinuria: mechanisms and management. Pediatr Nephrol. 2012;27:2031–2038.
   PubMed Web of Science ®Google Scholar
• Chi T, Taylor E, Stoller ML. Treating the cystine stone former presents a singular clinical challenge. Transl Androl Urol. 2014;3:234.
   PubMedGoogle Scholar
• Barbey F, Joly D, Rieu P, et al. Medical treatment of cystinuria: critical reappraisal of long-term results. J Urol. 2000;163:1419–1423.
   PubMed Web of Science ®Google Scholar
• Gupta M, Bolton DM, Stoller ML. Etiology and management of cystine lithiasis. Urology. 1995;45:344–355.
   PubMed Web of Science ®Google Scholar
• Pearle MS, Goldfarb DS, Assimos DG, et al. Medical management of kidney stones: AUA guideline. J Urol. 2014;192:316–324.
   PubMed Web of Science ®Google Scholar
• Sherer B, Isaacson D, Kornberg Z, et al. MP9-12: pharmaceutical burden and medication compliance in patients with cystinuria. World Congr Endourol Vancouver, BC, Canada. 2017.
   Google Scholar
• Haritopoulos K, Fojtik P, Cross W, et al. Impact of a metabolic stone clinic on management of patients with cystinuria: 5 years follow-up. Clin Ter. 2010;161:341–344.
   PubMed Web of Science ®Google Scholar
• Lindell A, Denneberg T, Edholm E, et al. The effect of sodium intake on cystinuria with and without tiopronin treatment. Nephron. 1995;71:407–415.
   PubMed Web of Science ®Google Scholar
• Crawhall JC, Thompson CJ. CYSTINURIA: effect of D-penicillamine on plasma and urinary cystine concentrations. Science. 1965;147:1459–1460.
   PubMed Web of Science ®Google Scholar
• McDonald JE, Henneman PH. Stone dissolution in vivo and control of cystinuria with D-penicillamine. N Engl J Med. 1965;273:578–583.
   PubMed Web of Science ®Google Scholar
• Lotz M, Potts JT, Holland JM, et al. D-penicillamine therapy in cystinuria. J Urol. 1966;95:257–263.
   PubMed Web of Science ®Google Scholar
• Combe C, Deforges-Lasseur C, Chehab Z, et al. [Cystine lithiasis and its treatment with d-penicillamine. The experience in a nephrology service in a 23-year period. Apropos of 26 patients]. Ann Urol (Paris). 1993;27:79–83.
   PubMedGoogle Scholar
• Pak CY, Fuller C, Sakhaee K, et al. Management of cystine nephrolithiasis with alpha-mercaptopropionylglycine. J Urol. 1986;136:1003–1008.
   PubMed Web of Science ®Google Scholar
• Pietrow PK, Auge BK, Weizer AZ, et al. Durability of the medical management of cystinuria. J Urol. 2003;169:68–70.
   PubMed Web of Science ®Google Scholar
• Rimer JD, An Z, Zhu Z, et al. Crystal growth inhibitors for the prevention of L-cystine kidney stones through molecular design. Science. 2010;330:337–341.
   PubMed Web of Science ®Google Scholar
• Sahota A, Parihar JS, Capaccione KM, et al. Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse model. Urology. 2014;84:1249.e9–15.
   PubMed Web of Science ®Google Scholar
• Michelakakis H, Delis D, Anastasiadou V, et al. Ineffectiveness of captopril in reducing cystine excretion in cystinuric children. J Inherit Metab Dis. 1993;16:1042–1043.
   PubMed Web of Science ®Google Scholar
• Ziegler D, Ametov A, Barinov A, et al. Oral treatment with alpha-lipoic acid improves symptomatic diabetic polyneuropathy: the SYDNEY 2 trial. Diabetes Care. 2006;29:2365–2370.
   PubMed Web of Science ®Google Scholar
• Holmquist L, Stuchbury G, Berbaum K, et al. Lipoic acid as a novel treatment for Alzheimer’s disease and related dementias. Pharmacol Ther. 2007;113:154–164.
   PubMed Web of Science ®Google Scholar
• Tang J, Wingerchuk DM, Crum BA, et al. Alpha-lipoic acid may improve symptomatic diabetic polyneuropathy. Neurologist. 2007;13:164–167.
   PubMed Web of Science ®Google Scholar
• Carbonelli MG, Di Renzo L, Bigioni M, et al. Alpha-lipoic acid supplementation: a tool for obesity therapy? Curr Pharm Des. 2010;16:840–846.
   PubMed Web of Science ®Google Scholar
• Zee T, Bose N, Zee J, et al. α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria. Nat Med. 2017;23:288–290.
   PubMed Web of Science ®Google Scholar
• Teichert J, Hermann R, Ruus P, et al. Plasma kinetics, metabolism, and urinary excretion of alpha-lipoic acid following oral administration in healthy volunteers. J Clin Pharmacol. 2003;43:1257–1267.
   PubMed Web of Science ®Google Scholar
• Flora SJS, Shrivastava R, Mittal M. Chemistry and pharmacological properties of some natural and synthetic antioxidants for heavy metal toxicity. Curr Med Chem. 2013;20:4540–4574.
   PubMed Web of Science ®Google Scholar
• Packer L, Cadenas E. Lipoic acid: energy metabolism and redox regulation of transcription and cell signaling. J Clin Biochem Nutr. 2011;48:26–32.
   PubMed Web of Science ®Google Scholar
• Smith AR, Shenvi SV, Widlansky M, et al. Lipoic acid as a potential therapy for chronic diseases associated with oxidative stress. Curr Med Chem. 2004;11:1135–1146.
   PubMed Web of Science ®Google Scholar
• Benedetti MG, Foster AL, Vantipalli MC, et al. Compounds that confer thermal stress resistance and extended lifespan. Exp Gerontol. 2008;43:882–891.
   PubMed Web of Science ®Google Scholar
• McMackin CJ, Widlansky ME, Hamburg NM, et al. Effect of combined treatment with alpha-Lipoic acid and acetyl-L-carnitine on vascular function and blood pressure in patients with coronary artery disease. J Clin Hypertens (Greenwich). 2007;9:249–255.
   PubMedGoogle Scholar
• Jacob S, Ruus P, Hermann R, et al. Oral administration of RAC-alpha-lipoic acid modulates insulin sensitivity in patients with type-2 diabetes mellitus: a placebo-controlled pilot trial. Free Radic Biol Med. 1999;27:309–314.
   PubMed Web of Science ®Google Scholar
• Haak E, Usadel KH, Kusterer K, et al. Effects of alpha-lipoic acid on microcirculation in patients with peripheral diabetic neuropathy. Exp Clin Endocrinol Diabetes. 2000;108:168–174.
   PubMed Web of Science ®Google Scholar
• Sola S, Mir MQS, Cheema FA, et al. Irbesartan and lipoic acid improve endothelial function and reduce markers of inflammation in the metabolic syndrome: results of the Irbesartan and Lipoic Acid in Endothelial Dysfunction (ISLAND) study. Circulation. 2005;111:343–348.
   PubMed Web of Science ®Google Scholar
• Ziegler D, Nowak H, Kempler P, et al. Treatment of symptomatic diabetic polyneuropathy with the antioxidant alpha-lipoic acid: a meta-analysis. Diabet Med. 2004;21:114–121.
   PubMed Web of Science ®Google Scholar
• Hager K, Marahrens A, Kenklies M, et al. Alpha-lipoic acid as a new treatment option for Alzheimer [corrected] type dementia. Arch Gerontol Geriatr. 2001;32:275–282.
   PubMed Web of Science ®Google Scholar
• Ziegler D, Low PA, Litchy WJ, et al. Efficacy and safety of antioxidant treatment with α-lipoic acid over 4 years in diabetic polyneuropathy: the NATHAN 1 trial. Diabetes Care. 2011;34:2054–2060.
   PubMed Web of Science ®Google Scholar
• Ercolani M, Sahota A, Schuler C, et al. Bladder outlet obstruction in male cystinuria mice. Int Urol Nephrol. 2010;42:57–63.
   PubMed Web of Science ®Google Scholar
• Ou P, Tritschler HJ, Wolff SP. Thioctic (lipoic) acid: a therapeutic metal-chelating antioxidant? Biochem Pharmacol. 1995;50:123–126.
   PubMed Web of Science ®Google Scholar
• Ramaswamy K, Killilea DW, Kapahi P, et al. The elementome of calcium-based urinary stones and its role in urolithiasis. Nat Rev Urol. 2015;12:543–557.
   PubMed Web of Science ®Google Scholar
• Scaramuzza A, Giani E, Redaelli F, et al. Alpha-lipoic acid and antioxidant diet help to improve endothelial dysfunction in adolescents with type 1 diabetes: a pilot trial. J Diabetes Res. 2015;2015:474561.
   PubMed Web of Science ®Google Scholar
• Huang EA, Gitelman SE. The effect of oral alpha-lipoic acid on oxidative stress in adolescents with type 1 diabetes mellitus. Pediatr Diabetes. 2008;9:69–73.
   PubMed Web of Science ®Google Scholar
• Livrozet M, Vandermeersch S, Mesnard L, et al. An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. Long D, editor. PLoS One. 2014;9:e102700.
   PubMed Web of Science ®Google Scholar
• Font-Llitjós M, Feliubadaló L, Espino M, et al. Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies. Am J Physiol Renal Physiol. 2007;293:F732–F740.
   PubMed Web of Science ®Google Scholar
• Yoon H-Y, Kang N-I, Lee H-K, et al. Sulforaphane protects kidneys against ischemia-reperfusion injury through induction of the Nrf2-dependent phase 2 enzyme. Biochem Pharmacol. 2008;75:2214–2223.
   PubMed Web of Science ®Google Scholar
• Jonassen JA, Cao L-C, Honeyman T, et al. Intracellular events in the initiation of calcium oxalate stones. Nephron Exp Nephrol. 2004;98:e61–e64.
   PubMedGoogle Scholar
• Khan SR. Reactive oxygen species as the molecular modulators of calcium oxalate kidney stone formation: evidence from clinical and experimental investigations. J Urol. 2013;189:803–811.
   PubMed Web of Science ®Google Scholar