Renal hypouricemia
Description
Research Hypothesis Our hypothesis is that novel mutations in the SLC2A9 gene, particularly the newly identified c.1004T>A mutation, contribute to recurrent episodes of exercise-induced acute kidney injury (EIAKI) even under low-intensity physical activity. This study aims to elucidate the genetic underpinnings of Renal Hypouricemia Type 2 (RHUC2) and understand the mechanisms through which these mutations cause kidney injury. Data Description and Collection The data was gathered from genetic sequencing and clinical analysis of a 30-year-old male patient who experienced recurrent EIAKI without engaging in high-intensity exercise. The key genetic findings include: SLC2A9(NM_020041.3) .646G>A p.(Gly216Arg) Location: Chr4:9982251 ClinVar ID: 1049499 (Uncertain significance) SLC2A9(NM_020041.3) .1004T>A p.(Ile335Asn) Location: Chr4:9909968 Notable Findings Novel Mutation Discovery: The c.1004T>A (Ile335Asn) mutation in the SLC2A9 gene is previously undocumented, indicating a novel genetic variant associated with RHUC2. Genetic Heterogeneity: These findings support the genetic heterogeneity of RHUC2, emphasizing the need for comprehensive genetic testing in patients with unexplained AKI.