Cardiomyopathy in Steroid-Resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis

06:28 EDT 2nd October 2014 | BioPortfolio

Summary

The objective of this study is as follows:

- Perform genetic analysis to define the prevalence of each of the known gene mutations in an unselected cohort of patients with focal segmental glomerulosclerosis (FSGS)

- Perform a comprehensive assessment of cardiovascular status to determine the incidence of any cardiac abnormalities in patients with FSGS

- Determine if patients with mutations in specific proteins are more likely to have cardiovascular abnormalities

- Initiate long-term follow up in all patients to determine whether cardiac prognosis is related to any specific genetic abnormality

Description

Nephrotic Syndrome is a frequent cause of chronic kidney disease in children. Patients who are unresponsive to treatment with corticosteroids are further categorized as having steroid resistant nephrotic syndrome (SRNS). Renal biopsy in SRNS patients often reveal the histological lesion of focal segmental glomerulosclerosis (FSGS).

Genetic research has identified mutations in specific podocyte proteins, which may lead to the development of steroid resistant nephrotic syndrome. In addition to being expressed in the fetal adult kidney, human podocin mRNA is also expressed in the fetal heart tissue. Multiple case reports have described an association between cardiac abnormalities and familial FSGS. These findings suggest that this gene may be involved in the pathogenesis of cardiac abnormalities seen in this population.

The objectives of this study is to:

- Perform genetic analysis to define the prevalence of each of the known podocyte gene mutations in an unselected cohort of patients with FSGS

- Perform a comprehensive assessment of cardiovascular status to determine the incidence of any cardiac abnormalities in patients with FSGS

- Determine if patients with mutations in specific podocyte proteins are more likely to have cardiovascular abnormalities

- Initiate long-term follow up in all patients to determine whether cardiac prognosis is related to any specific genetic abnormality

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Focal Segmental Glomerulosclerosis

Intervention

Cardiovascular Assessment, Renal Assessment, Genetic Evaluation

Location

Schneider Children's Hospital
New Hyde Park
New York
United States
11040

Status

Enrolling by invitation

Source

North Shore Long Island Jewish Health System

Results (where available)

View Results

Links

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Medical and Biotech [MESH] Definitions

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An office established to help Congress participate and plan for the consequences of uses of technology. It provided information on both the beneficial and adverse effects of technological applications. The Office of Technology Assessment closed on September 29, 1995.

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