Ewha Med J.  2020 Apr;43(2):35-38. 10.12771/emj.2020.43.2.35.

Severe Acute Kidney Injury with Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12

• Cho CM
• Cheong HI
• Lee JW

• KMID: 2501246
• DOI: http://doi.org/10.12771/emj.2020.43.2.35

Abstract

Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. A defect in the SLC22A12 genes, which encodes the renal uric acid transporter, URAT1, is the known major causes of this disorder. Most patients are clinically silent, but exercise-induced acute kidney injury, urolithiasis or hematuria may develop. The patient presented with azotemia, decreased urine output and abdominal pain without vigorous exercise past history. He was diagnosed with rapidly progressive glomerulonephritis at admission, but low serum uric acid level was persisted. Since the diagnosis of the patient was familial renal hypouricemia, we performed sequence analysis of the SLC22A12 gene in all family members. We report a case of 17-year-old boy with severe acute kidney injury with familial renal hypouricemia confirmed by genotyping of SLC22A12 .

Keyword

Renal hypouricemia; SLC22A12 gene; Acute kidney injury

Figure

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  Fig. 1 Histopathologic examination of renal biopsy revealed normal glomeruli and arterioles without crescent and tubulointerstitial abnormalities by light microscope (A, ×100; B, ×200).

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  Fig. 2 Pedigree of family carrying in SLC 22A12 gene. Genetic test were performed only in patient, both parents and his brother. None of their grandparents, paternal and maternal siblings conducted the test. The proband, or original patient, is denoted by the arrow. The patient and his brother had homozygotic mutation and denoted as “+/+” below their pedigree symbol. Their both parents was found to carry the heterozygotic mutation, this is denoted as “+/-” below their pedigree symbol. +, NM_144585.4(SLC22A12):c.774G>A (p.Trp258Ter).

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  Fig. 3 SLC22A12 genotyping. The patient carries a homozygous pathogenic variant of SLC22A12 gene such as NM_44585.4(SLC22A12):c. 774G>A, p.Trp258Ter. Both parents are heterozygous for the pathogenic variant, while his brother carries same homozygous pathogenic variant. (A) Patient, (B) father, (C) mother, and (D) brother.

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