Nishizaki Naoto, Fujinaga Shuichiro, Hirano Daishi, Kanai Hiroaki, Kaya Hitoshi, Ohtomo Yoshiyuki, Shimizu Toshiaki, Nozu Kandai, Kaneko Kazunari
Division of Nephrology, Saitama Children's Medical Center, Saitama, Japan.
Clin Nephrol. 2012 Feb;77(2):161-3. doi: 10.5414/CN106949.
Although renal hypouricemia is mostly asymptomatic, it is known to present a high risk of exercise-induced acute renal failure, especially in young males. However, there is little information regarding the clinical features of urolithiasis as a complication in childhood renal hypouricemia. Here we report a 4-year old female with idiopathic renal hypouricemia who presented with macroscopic hematuria due to obstructive calcium oxalate urolithiasis. She was treated successfully with percutaneous nephrolithotripsy and thereafter hematuria disappeared. Sequence analysis of the patient and her family's URAT1 gene confirmed a nonsense mutation in exon 4 (W258X). To the best of our knowledge, this is the youngest case of hereditary renal hypouricemia caused by URAT1 gene mutation, which was found by hematuria due to calcium oxalate urolithiasis.
尽管肾性低尿酸血症大多无症状，但已知其存在运动诱发急性肾衰竭的高风险，尤其是在年轻男性中。然而，关于儿童肾性低尿酸血症并发症尿路结石的临床特征的信息很少。在此，我们报告一名4岁患有特发性肾性低尿酸血症的女性，她因梗阻性草酸钙尿路结石出现肉眼血尿。她接受经皮肾镜碎石术治疗成功，此后血尿消失。对该患者及其家族的URAT1基因进行序列分析，证实外显子4存在无义突变（W258X）。据我们所知，这是由URAT1基因突变导致的遗传性肾性低尿酸血症的最年轻病例，该病例因草酸钙尿路结石导致血尿而被发现。
