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Background: Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and inadequate proliferation occurring in TS may be blocked by mTOR inhibitors (mammalian target of rapamycin), such as rapamycin., Material and Methods: At present, our study includes 17 patients with TS. All had at least one AML greater than 2cm in diameter diagnosed by MRI. They received rapamycin during 12 months. Plasma levels remained stable between 4-8ng/dl. The AML size was monitored every six months by abdominal MRI., Results: At 12 months of inclusion, MRI indicated a decrease in the size of AML in all patients showing at least a 50% reduction in 82.4% (14/17, 95% CI [56.57%, 96.20%]). The mean percent reduction was 66.3% (95% CI [56.9%, 75.6%], P<.0001). The major side effects observed were: oral aphthous ulcers (5/17); hypertriglyceridemia (3/17); microcytosis and hypochromia (3/17); diarrhea (2/17); acne (1/17); acute pyelonephritis (1/17); and proteinuria (1/17)., Conclusions: These preliminary clinical data suggest that rapamycin can play a beneficial role in the treatment of TS. Our experience in 17 patients treated for 12 months demonstrates safety and efficacy in reducing AML volume.

Introduction: A recent report by the CKD-EPI Chronic Kidney Disease Epidemiology Collaboration) group describes a new equation to estimate the glomerular filtration rate (GFR). This equation has been developed from a population of 8,254 subjects who had the GFR measured by iothalamate clearance (mean 68 mL/min/1.73 m2, SD 40 mL/min/1.73 m2). It includes variables such as serum creatinine, age, sex and race with different formula according to race, sex and creatinine value. The CKD-EPI equation improved the accuracy and precision results of the current first-choice MDRD-IDMS (Modification of Diet in Renal Disease-Isotopic Dilution Mass Spectrometry) formula, specially for GFR > 60 mL/min/1.73 m2 in a group of 3,896 subjects., Methods: The goal of our study was to compare the estimated GFR by using the new equation CKD-EPI with MDRD-IDMS in a wide cohort of 14,427 patients (5,234 women and 9,193 men), and to analyze the impact of the new CKD-EPI formula on the staging of patients with CKD., Results: Mean estimated GFR was 0.6 mL/min/1.73 m2 higher with CKD-EPI as compared to MDRD-IDMS for the whole group, 1.9 mL/min/1.73 m2 higher for women and 0.2 mL/min/1.73 m2 lower for men. The percentage of CKD staging concordancy between equations varied from 79.4 % for stage 3A and 98.6% for stage 5. For those patients younger than 70 years, 18.9 % and 24 % MDRD-IDMS stages 3B and 3A were reclassified as CKD 3A and 2 by CKD-EPI, respectively. For the same stages in the group younger than 70 years, the percentage of reclassified patients increased up to 34.4% and 33.4%, respectively., Conclusion: The new CKD-EPI equation to estimate the GFR reclassifies an important number of patients to higher CKD stages (higher GFR), specially younger women, classified as CKD stage 3 by MDRD-IDMS.