Phospholipase C-Gamma 2 Activity in Familial Steroid-Sensitive Nephrotic Syndrome

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منابع مشابه

Steroid Sensitive Nephrotic Syndrome in Children

Nephrotic Syndrome (NS) is one of the most frequent glomerular diseases seen in children. Children who go into complete remissin following treatment with corticosteroids are classified as having “steroid sensitive” NS. In developed countries over 80% of children with idiopathic NS have steroid sensitive disease although response to steroids is somewhat tempered in developing countries, especial...

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Disease course in steroid sensitive nephrotic syndrome.

OBJECTIVE To review the disease course in patients with steroid sensitive nephrotic syndrome (SSNS) and the factors that determine outcome DESIGN Retrospective, analytical SETTING Pediatric Nephrology Clinic at referral center in North India PARTICIPANTS/PATIENTS All patients with SSNS evaluated between 1990 and 2005 INTERVENTION: None MAIN OUTCOME MEASURES Disease course, in patients w...

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Relapse in Steroid-sensitive Nephrotic Syndrome

The objective of this study was to identify predictors of relapse and determine the predictive score for relapse in steroid-sensitive nephrotic syndrome. Ninety-nine children with nephrotic syndrome visiting the pediatric nephrology outpatient clinic of Soetomo Hospital from 1983 to 2001 were studied. There were 63 children with relapses (50 infrequent relapses, 13 frequent relapses) and 36 chi...

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Familial steroid-sensitive idiopathic nephrotic syndrome: seven cases from three families in China

OBJECTIVES Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS All seven of the familial steroid-sensit...

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Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding the actin-binding protein advillin (AVIL) in 3 unrelated families with SRNS. While all AVIL mutations resulted in a marked loss of its actin-bundling ability, truncation of AVIL also disrupted colocalization with F-actin, thereby leading to impa...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 2018

ISSN: 0031-3998,1530-0447

DOI: 10.1038/s41390-018-0259-6