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Abstract: SA-PO586

Congenital Nephrotic Syndrome in the Amish and Mennonite Population of Central Pennsylvania

Session Information

  • Pediatric Nephrology - II
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Pediatric Nephrology

  • 1800 Pediatric Nephrology

Author

  • Kim, Hannah, Penn State College of Medicine, Hershey, Pennsylvania, United States

Group or Team Name

  • Penn State Children's Hospital and Division of Pediatric Nephrology and Hypertension
Background

Pennsylvania has the largest Amish/Mennonite population in the United States. The Amish/Mennonites accept beliefs that restrict participation in larger American society and thus have increased risk for certain genetic diseases including congenital nephrotic syndrome (CNS). We aim to describe the CNS population at Penn State Children’s Hospital.

Methods

Clinical characteristics of the known CNS population at Penn State Children’s Hospital were assessed using a retrospective electronic medical record review. An individual was defined as being part of, or historically part of, the Amish or Mennonite population by self-disclosure. Characteristics were summarized using medians (interquartile ranges) or proportions. Kaplan-Meier curves and Log-rank tests were used to evaluate time to end-stage kidney disease as defined by time to end-stage kidney disease (ESKD).

Results

25 patients were identified at Penn State Children’s Hospital over the last 30 years with a diagnosis of CNS (Table 1). Of those patients, 80% identified as Amish or Mennonite. The majority had either NPHS1 or NPHS2 mutations. The median time to ESKD was at 3 years of age (Figure 1). The median time to ESKD was faster for those with NPHS1 as compared to those with NPHS2 mutations (3 vs. 6 years, p<0.001).

Conclusion

The majority of children were of Amish or Mennonite background with ESKD in the first few years of life. Most had associated hypothyroidism, but the incidence of other complications including thromboses and serious bacterial infections was low.

Table 1. Clinical Characteristics

Figure 1. Time to ESKD