Search

Your search keyword '"Zeng, Caihong"' showing total 6 results
Start Over Author "Zeng, Caihong" Journal nephron
6 results on '"Zeng, Caihong"'

6. Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMODMutation: A Two-Case Report and Literature Review

Author

Liang, Dandan, Liang, Shaoshan, Zhang, Mingchao, Gao, Erzhi, Zhang, Zhihong, Jin, Ying, Xu, Feng, and Zeng, Caihong

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 UMODmutations (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-UMODis an underdiagnosed disease, electron microscopy and immunohistochemical staining for uromodulin are helpful in the diagnosis of ADTKD-UMODand genetic analysis is the gold standard.

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results