Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 4
- 试验地点
- 1
- 主要终点
- Presence or Absence of any of the podocin gene mutations
研究概览
简要总结
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
详细描述
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
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Months 至 21 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 6 months - 21 years
- •SRNS, defined as failure to achieve remission in proteinuria after 4-6 weeks of daily steroid therapy in accord with ISKDC guidelines
- •GFR > 30 ml/min/1.73 m^2
- •Renal disease diagnosed based on kidney biopsy
排除标准
- •Secondary FSGS
- •Prior renal transplantation
- •Congenital extra-renal abnormalities
- •Significant structural cardiac abnormalities
- •pulmonary, hematologic, malignancy, or immune-related disease
- •inability to maintain adequate follow-up
结局指标
主要结局
Presence or Absence of any of the podocin gene mutations
时间窗: baseline
Presence or Absence of any of the podocin gene mutations 1. podocin gene (NPHS2) 2. CD2-associated protein (CD2AP) 3. actinin-4 (ACTN4) 4. Nephrotic syndrome steroid-resistant gene (SRN1) 5. Wilms Tumor 1(WT1) 6. Transient receptor potential cation channel, subfamily C, member 6 (TRPC6) 7. Phospholipase C-E1 (PLCE-1)
次要结局
未报告次要终点