Renal hypouricemia
收藏DataCite Commons2024-07-12 更新2024-07-13 收录
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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.
提供机构：
Mendeley Data
创建时间：
2024-07-12
