Electrolyte Blood Press.  2015 Dec;13(2):52-57. 10.5049/EBP.2015.13.2.52.

A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review

• Kim HO
• Ihm CG
• Jeong KH
• Kang HJ
• Kim JM
• Lim HS
• Kim JS
• Lee TW

• KMID: 2152087
• DOI: http://doi.org/10.5049/EBP.2015.13.2.52

Abstract

A 24-year-old male visited our hospital because of pain in both flanks. His biochemistry profile showed an elevated serum creatinine level and low serum uric acid level. History taking revealed that he had undertaken exercise prior to the acute kidney injury (AKI) event, and he stated that family members had a history of urolithiasis. His renal profile improved after hydration and supportive care during hospitalization. Although the patient was subsequently admitted again due to AKI, his status recovered with similar treatment. Since the diagnosis of the patient was familial renal hypouricemia with exercise-induced AKI, we performed genotyping of SLC22A12, which encodes human urate transporter 1. The diagnosis was confirmed by the detection of a homozygous mutation of W258X. We herein, report a case of familial renal hypouricemia confirmed by genotyping of SLC22A12, and review the relevant literature.

Keyword

Familial renal hypouricemia; SLC22A12; URAT1; Acute kidney injury

MeSH Terms

Acute Kidney Injury
Biochemistry
Creatinine
Diagnosis
Hospitalization
Humans
Male
Uric Acid
Urolithiasis
Young Adult
Creatinine
Uric Acid

Figure

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  Fig. 1 Pedigree of the patient. Pedigree of the patient. Marriage information except the parents were not depicted. Paternal grandmother of the patient expired due to cancer. Mother of the patient had AKI history. Maternal aunt and uncle had urolithiasis history. Further familial information was unable to acquire.

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  Fig. 2 Abdominal computed tomography (CT) image of the patient. CT image of the patient showing decreased enhancement of both kidneys without wedge-shaped contrast media. There was no evidence of urolithiasis.

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  Fig. 3 SLC22A12 genotyping. Electropherograms of partial sequences of exon 4 of SLC22A12 showing the homozygous mutation c.774 G>A (p.Trp258Ter), or W258X, in the patient. The result of the molecular analysis is consistent with the clinical impression of familial renal hypouricemia. The patient's mother also exhibited this mutation, but was heterozygous.

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  Fig. 4 eGFR and uric acid level during follow-up.

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