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Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction
Background and objectives: Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL. Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is poorly understood.
Design, setting, participants, & measurements: The renal phenotype of 16 patients with Lowe syndrome (10.9 ± 7.0 yr) under care of the authors was characterized to define overlap of symptoms with Dent disease and infer clues about OCRL function. Medical charts of patients were reviewed for data regarding glomerular filtration rate and markers of proximal tubular function.
Results: All patients had low molecular weight proteinuria and albuminuria. Lysosomal enzymuria was elevated in all 11 patients assessed. Fifteen patients had hypercalciuria, and 14 aminoaciduria. Seven patients required bicarbonate and three required phosphate replacement; all others maintained normal serum values without supplementation. None of the patients had detectable glycosuria, and none had clinically overt rickets. GFR was mildly to moderately impaired and highly variable, with a trend of deterioration with age.
Conclusions: Patients with Lowe syndrome do not have renal Fanconi syndrome but a selective proximal tubulopathy, variable in extent and dominated by low molecular weight proteinuria and hypercalciuria, the classical features of Dent disease. These findings suggest that OCRL and ClC-5, the chloride channel mutated in Dent disease, are involved in similar reabsorption pathways in the proximal tubule.
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Interferon-{gamma} Release Assays for Diagnosing Mycobacterium tuberculosis Infection in Renal Dialysis Patients
Background and objectives: End-stage renal disease (ESRD) patients are at high risk for tuberculosis (TB). IFN- release assays that assess immune responses to specific TB antigens offer potential advantages over tuberculin skin testing (TST) in screening such patients for Mycobacterium tuberculosis infection. This study sought to determine whether IFN- release assay results are more closely associated with recent TB exposure than TST results.
Design, setting, participants, and measures: Prospective cohort investigation of patients at a hemodialysis center with a smear-positive case of TB. Patients without a history of TB underwent initial and repeat testing with TST, and with the IFN- assays QuantiFERON-TB Gold® (QFT-G) and ELISPOT test. Outcome measures included the prevalence of positive test results, identification of factors associated with positive results, and test result discordance.
Results: A total of 100 (47% foreign born; median age, 55 yr; age range, 18 to 83 yr) of 124 eligible patients were enrolled. Twenty-six persons had positive TST results, 21 had positive QFT-G results, and 27 had positive ELISPOT results. Patients with TB case contact were likely to have a positive QFT-G result (P = 0.02) and ELISPOT results (P = 0.04), whereas TB case contact was not associated with positive TST results (P = 0.7). Positive TST results were associated with foreign birth (P = 0.04) and having had a TST in the previous year (P = 0.04).
Conclusions: Positive IFN- assay results were more closely associated with recent TB exposure than were positive TST results. QFT-G and ELISPOT might offer a better method for detecting TB infection in ESRD patients.
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Exercise increases risk of catching the flu, while quercetin lowers this risk (in mice)
EurekAlert: The researchers found that:......................
* Stressful exercise increased susceptibility to the flu. The mice that exercised to fatigue for three days were more likely to develop the flu than the mice that did not exercise (91% versus 63%)....................
* The mice that exercised developed the flu much sooner than those that did not (6.9 days versus 12.4 days)................
* Mice that exercised and took quercetin had nearly the same rate of illness as those that did not exercise. In other words, quercetin canceled out the negative effect of stressful exercise...........
* The severity of the symptoms among those mice that either did not exercise or those that exercised but took the quercetin was about the same..............
* Quercetin had protective effects for the mice that did not exercise.
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Canada Nephrology and Urology Medical Equipment Industry Report ... - MarketWatch
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ACE gene polymorphism and the prognosis and treatment of overt diabetic nephropathy
ACE gene polymorphism and the prognosis and treatment of overt diabetic nephropathy
Nature Clinical Practice Nephrology 4, 472 (2008). doi:10.1038/ncpneph0896
Authors: Jesús Egido
& Alberto Ortiz
