PMC5140875_01
Fifty glomeruli were obtained. One of the glomeruli was sclerosed. Around the sclerosed glomerulus, renal tubular atrophy and interstitial fibrosis were noted. There was focal inflammatory cell infiltration.There was no sign of glomerulonephritis.
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PMC5140875_01_1349-7235-55-3201-g001.jpg
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A renal biopsy revealed a small amount of monocyte infiltration around atrophic renal tubules in a localized area (Fig. 1).
Sanger sequencing of all exon regions of SLC12A3 revealed a heterozygous mutation in c.C3052T, which changes the codon of the 1,018th arginine to a stop codon. No additional mutation was found.
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PMC5140875_01_1349-7235-55-3201-g002.jpg
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A heterozygous mutation in c.C3052T (p.R1018X) (Fig. 2) was detected, which changes the 1,018th arginine to a stop codon and truncates the C terminal of NCCTs.