Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSPGUIMARAES, Luciana Pache de FariaSEGURO, Antonio CarlosSHIMIZU, Maria Heloisa MazzolaNERI, Leticia Aparecida LopesSUMITA, Nairo MassakasuBRAGANCA, Ana Carolina deVOLPINI, Rildo AparecidoSANCHES, Talita Rojas CunhaFONSECA, Fernanda Andrade Macaferri daMOREIRA FILHO, Carlos AlbertoVAISBICH, Maria Helena2014-09-302014-09-302014PEDIATRIC NEPHROLOGY, v.29, n.6, p.1097-1102, 20140931-041Xhttps://observatorio.fm.usp.br/handle/OPI/7627Nephropathic cystinosis is an autosomal recessive systemic severe disease characterized by intralysosomal cystine storage. Cysteamine is an essential component of treatment. There is solid evidence that cystine accumulation itself is not responsible for all abnormalities in cystinosis; there is also a deficiency of glutathione in the cytosol. Patients with cystinosis can be more susceptible to oxidative stress. The patient cohort comprised 23 cystinosis patients (16 males) aged < 18 years (mean age 8.0 +/- 3.6 years) with chronic kidney disease class I-IV with good adherence to treatment, including cysteamine. Oxidative stress was evaluated based on the levels of serum thiobarbituric acid-reactive substances (TBARS), and renal function was evaluated based on serum creatinine and cystatin C levels and creatinine clearance (Schwartz formula). N-Acetylcysteine (NAC), an antioxidant drug was given to all patients for 3 months (T1) at 25 mg/kg/day divided in three doses per day. The measured values at just before the initiation of NAC treatment (T0) served as the control for each patient. Median serum TBARS levels at T0 and T1 were 6.92 (range 3.3-29.0) and 1.7 (0.6-7.2) nmol/mL, respectively (p < 0.0001). In terms of renal function at T0 and T1, serum creatinine levels (1.1 +/- 0.5 vs. 0.9 +/- 0.5 mg/dL, respectively; p < 0.0001), creatinine clearance (69.7 +/- 32.2 vs. T1 = 78.5 +/- 33.9 mL/min/1.73 m(2), respectively; p = 0.006), and cystatin c level (1.33 +/- 0.53 vs. 1.15 +/- 0.54 mg/l, respectively; p = 0.0057) were all significantly different at these two time points. Serum creatinine measurements at 6 (T -6) and 3 months (T -3) before NAC initiation and at 3 (T +3) and 6 months (T +6) after NAC had been withdrawn were also evaluated. During the 3-month period that our 23 cystinosis patients were treated with NAC, oxidative stress was reduced and renal function significantly improved. No side-effects were detected. Larger and controlled studies are needed to confirm these findings.engrestrictedAccessNephropathic cystinosisOxidative stressGlomerular filtration rateN-AcetylcysteineCysteamineinduced nephrotoxicitycysteamine therapyacetylcysteinetransplantationchildrenglutathioneadolescentsprogressionmechanismsoutcomesarticleCopyright SPRINGER10.1007/s00467-013-2705-3PediatricsUrology & Nephrology1432-198X