Research Information System
SSIEM Annual Symposium 2024, Porto, Portugal, 3 - 06 September 2024, pp.349, (Summary Text)
Background: Chronic kidney disease has emerged as a late
complication in glutaric aciduria type 1 (GA1). Data on the
location and scope of renal injury are scarce. We aimed to
assess multiple renal function domains in children and adults
with GA1.
Case Study/Methods: In this single-center cross-sectional
study, demographic and clinical data were collected from
hospital records. Estimated glomerular filtration rate (eGFR,
ml/min/1.73m2) was calculated using age-appropriate formulas.
Renal Doppler ultrasound was performed. Albumin, protein, 2
microglobulin (B2MG), kidney injury molecule 1, lipocalin-2 and
uromodulin were measured in spot urine specimens from the
patients and age- and sex-matched controls, and normalized to
urinary creatinine (Cre).
Results: 16 individuals with GA1 were enrolled (median age:
13.2 years, range: 5 mo 24 y). Different eGFR formulas were
discordant, and serum creatinine overestimated eGFR
compared to cystatin C (CysC) (mean 118.93±17.83 vs.
95.25±20.52). Urinary protein:Cre [median (Q1-Q3): 0.16 (0.09-
0.22) vs 0.07 (0.05-0.10)] and B2MG:Cre [122.39 (67.40-200.05)
vs 52.12 (31.03-103.43)] were significantly elevated than
CysC-based eGFR was lower than 90 in 7 patients and higher in
8 (not calculated in 1). In patients with decreased eGFR, renal
vein flow velocities were significantly lower, and serum alkaline
phosphatase and phosphorus levels were higher than patients
with normal eGFR, but all were within normal limits. Urinary
protein biomarkers did not significantly differ between the two
groups. Renal size (corrected to patient height) was
significantly smaller in patients with malnutrition and severe
neurologic dysfunction.
Discussion/Conclusion: Decreased eGFR is common in GA1,
even at a young age. CysC measurements are mandatory in
renal surveillance because Cre-based eGFR is misleading. Renal
dysfunction is probably mainly tubular in origin. Urinary B2MG,
renal size and renal vein flow velocities should be explored
further as biomarkers.
Funding: University THD-2022-20261