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논문분류	춘계학술대회 초록집
제목	Two cases of type 1 renal hypouricemia with different clinical courses: a case report
저자	Haeun Lee
출판정보	2023; 2023(1):
키워드
초록	Type 1 renal hypouricemia (RHUC) is characterized by decreased serum uric acid (UA) level (≤ 2mg/dl) and increased fractional excretion of UA (FEUA> 10%), which is caused by mutation of theSLC22A12gene (encoding uric acid transporter 1, URAT1). Here we present two cases of type 1 RHUC which were presented with totally different clinical courses. Case 1 A 51-year old man presented to the emergency room complaining of myalgia, both flank pain, and progressive oliguria one week after cycling. Laboratory tests revealed acute kidney injury (AKI) (Table 1). Serum UA level was 6.1 mg/dl despite AKI. He received intravenous normal saline for one week without dialysis. After 3 months, his renal function had fully recovered. However, serum UA level became markedly below normal (0.8 mg/dl) and FEUAwas 57.4% (Table 1). Genetic testing using next-generation sequencing (NGS) identified compound heterozygous mutations ofSLC22A12, i.e., a nonsense mutation of c.774G>A (p.W258X) in exon 4 and a missense mutation of c.269G>A (p.R90H) in exon 9 (Fig. 1A). Because he has the potential for repeated AKI, we recommended him to avoid strenuous exercise and nephrotoxic drugs. Case 2 37-year-old woman found to have hypouricemia at a medical checkup visited our outpatient clinic without any symptoms. Her serum UA level was 0.5 mg/dl, while her FEUAwas 65% (Table 1). Genetic testing revealed a homozygous mutation ofSLC22A12in exon 4, c.774G>A (p. W258X) (Fig. 1B). We explained her diagnosis and the risk of AKI after heavy exercise. The pathogenic mechanism of EIAKI in RHUC is not completely understood. We hypothesized that compound heterozygous mutations ofSCL22A12could cause more severe clinical manifestation than homozygous gene mutation of theSCL22A12in patients with RHUC. In addition, gender difference may play a major role because estrogen exerts protective effects against developing AKI.
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