Chronic Kidney Disease Clinical Trial
Official title:
Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis
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
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
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