← brief for 2026-10-13 · Slowing decline

A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance

Key takeaways

A 69-year-old woman had very low levels of uric acid in her blood. Doctors found two specific gene changes that caused this rare kidney condition. This is a single case report, not a large study. It helps doctors understand how certain gene changes affect kidney function.

Who did this work

Naoyuki Otani (Dokkyo Medical University Nikko Medical Center) · Marie Yamamoto (National Institute of Technology, Yonago College) · Tomoaki Takata (Tottori University) · Shinobu Sugihara (Shimane University) · Masanari Kuwabara (Jichi Medical University) · Masaharu Fukuki (National Hospital Organization Yonago Medical Center) · Yusuke Endo (Tottori University) · Seiko Shimizu (National Defense Medical College) · Akiyoshi Nakayama (National Defense Medical College) · Akihiro Otsuki (Tottori University) · Hirotaka Matsuo (National Defense Medical College) · Kimiyoshi Ichida (Jikei University School of Medicine)

Source

Article · OpenAlex, CKD works · 2026-10-12
https://doi.org/10.1007/s13730-026-01189-0