Gene mutations and steroid-resistant nephrotic syndrome.
نویسنده
چکیده
منابع مشابه
Children with Steroid-resistant Nephrotic Syndrome: a Single-Center Study
Background and Aim: Steroid-resistant nephrotic syndrome (SRNS) accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. These patients are at risk of developing end-stage renal disease. The aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with SRNS.Materials and Met...
متن کاملMutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.
Human nephrotic syndrome has been related to mutations in glomerular proteins. Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. It has been advised to test for NPHS2 mutations in parallel or before giving steroid treatment in nephrotic syndrome patients in order to avoid unnecessary therapy. We identified NPHS2 mutatio...
متن کاملMutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome.
Mutations in the Wilms' tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroid-resistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroid-resistant nephrotic syndrome, but, recently, four boys w...
متن کاملWhole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
BACKGROUND AND OBJECTIVES Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with w...
متن کاملIntracardiac Thrombus in Renovascular Hypertension: A Case Report
Thromboembolism is a rare complication of primary nephortic syndrome. Both venous and arterial thrombosis might occur in steroid responsive and steroid resistant nephrotic syndrome. This is the report of an infant with nephrotic syndrome and renovascular hypertension, complicated with asymptomatic intracardiac thrombus and managed appropriately with medical treatment.
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ورودعنوان ژورنال:
- Iranian journal of kidney diseases
دوره 7 5 شماره
صفحات -
تاریخ انتشار 2013