Article ; Online: Autosomal dominant chronic tubulointerstitial nephropathy: do not forget amyloidosis.
2024 Volume 105, Issue 4, Page(s) 666–669
Abstract: Amyloidosis is a rare cause of inherited kidney disease, with most variants responsible for prominent glomerular involvement. In this issue, Kmochová et al. reported the first description of autosomal dominant medullary amyloidosis due to apolipoprotein ... ...
Abstract | Amyloidosis is a rare cause of inherited kidney disease, with most variants responsible for prominent glomerular involvement. In this issue, Kmochová et al. reported the first description of autosomal dominant medullary amyloidosis due to apolipoprotein A4 variants, resulting in slowly progressive chronic kidney disease with minimal proteinuria. Combining next-generation sequencing with histopathological studies incorporating Congo red staining and mass spectrometry should be considered in the diagnostic workup of hereditary tubulointerstitial disorders not identified after routine genetic testing. |
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MeSH term(s) | Humans ; Nephritis, Interstitial/diagnosis ; Nephritis, Interstitial/genetics ; Nephritis, Interstitial/complications ; Amyloidosis/diagnosis ; Amyloidosis/genetics ; Renal Insufficiency, Chronic/diagnosis ; Renal Insufficiency, Chronic/genetics ; Genetic Testing |
Language | English |
Publishing date | 2024-02-17 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 120573-0 |
ISSN | 1523-1755 ; 0085-2538 |
ISSN (online) | 1523-1755 |
ISSN | 0085-2538 |
DOI | 10.1016/j.kint.2024.01.025 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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