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Long-Term Renal Function in Adult Patients with Phenylketonuria
Flóra Franciska Prepok1, Karolina Kornélia Schnabel2, Csaba Sumánszki1
1Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary.
Nephron
|September 27, 2023
Summary
Poor adherence to phenylketonuria (PKU) therapy, leading to high phenylalanine (Phe) levels, can negatively impact kidney function over time. Maintaining therapeutic Phe levels is crucial for preserving long-term kidney health in PKU patients.
Area of Science:
- Nephrology
- Metabolic Disorders
- Genetics
Background:
- Phenylketonuria (PKU) is a genetic disorder requiring lifelong management.
- Elevated phenylalanine (Phe) levels in PKU can affect organs beyond the brain.
- PKU therapy involves amino acid mixtures that may induce glomerular hyperfiltration.
Purpose of the Study:
- To investigate the long-term impact of PKU therapy adherence on kidney function.
- To compare renal parameters between PKU patients with good and suboptimal Phe control.
- To determine the association between blood Phe levels and kidney function over a decade.
Main Methods:
- Retrospective analysis of data from 41 adult, early-treated PKU patients over 10 years.
- Subgrouping based on long-term blood Phe levels (therapeutic vs. suboptimal).
- Collection and comparison of renal function and metabolic parameters.
Main Results:
- Patients with suboptimal Phe control showed a significant decrease in estimated glomerular filtration rate (eGFR) over 10 years.
- Suboptimal adherence was associated with increased serum creatinine and decreased eGFR compared to the well-adherent group.
- A significant negative correlation was found between blood Phe levels and eGFR (r = -0.41, p = 0.008).
Conclusions:
- Long-term suboptimal therapy adherence in PKU patients is linked to kidney function deterioration.
- High blood Phe levels in PKU patients may lead to reduced kidney function.
- Maintaining therapeutic Phe levels is essential for preserving kidney health in PKU.
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