Abstract
Autosomal dominant tubulointerstitial kidney disease due to UMOD (encoding uromodulin) mutation (ADTKD-UMOD) is a rare hereditary disease. In the present study, we reported 2 ADTKD cases with confirmed UMOD mutations (Arg185His, Trp258Gly) by gene testing. They were young men and presented with hyperuricemia and renal dysfunction with no hematuria or proteinuria. Renal histology showed chronic tubulointerstitial nephropathy with fibrillar inclusions in the cells of distal tubules. Electron microscopy illustrated extensive bundled and cystic endoplasmic reticulum. Immunohistological analysis confirmed intracytoplasmic aggregates of uromodulin in the distal tubules. Since ADTKD-UMOD is an underdiagnosed disease, electron microscopy and immunohistochemical staining for uromodulin are helpful in the diagnosis of ADTKD-UMOD and genetic analysis is the gold standard.
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