Renal hypouricemia

Research Hypothesis: Our hypothesis explores the role of compound heterozygous mutations in the SLC2A9 gene, particularly focusing on the c.1004T>A mutation, in contributing to recurrent episodes of exercise-induced acute kidney injury (EIAKI), even in the absence of high-intensity physical activity. This study aims to enhance the understanding of the genetic basis of Renal Hypouricemia Type 2 (RHUC2) and the mechanisms by which these mutations lead to kidney injury.

Data Description and Collection: The data were collected from genetic sequencing and clinical analysis of a 30-year-old male patient who experienced recurrent EIAKI despite engaging only in low-to-moderate intensity physical activity. The key genetic findings include:
SLC2A9 (NM_020041.3)
c.646G>A p.(Gly216Arg)
Location: Chr4:9982251
ClinVar ID: 1049499 (Uncertain significance)
SLC2A9 (NM_020041.3)
c.1004T>A p.(Ile335Asn)
Location: Chr4:9909968

Notable Findings:
Variant of Uncertain Significance (VUS): The c.1004T>A (Ile335Asn) mutation in the SLC2A9 gene, though previously reported, is classified as a Variant of Uncertain Significance (VUS). Its association with RHUC2, especially in the context of recurrent EIAKI, underscores the complexity of this condition.
Genetic Heterogeneity: These findings reinforce the genetic heterogeneity of RHUC2, highlighting the importance of comprehensive genetic testing for accurate diagnosis in patients with unexplained acute kidney injury, particularly when recurrent episodes follow physical activity.