Novel Homozygous FAN1 Mutation in a Familial Case of Karyomegalic Interstitial Nephritis

Karyomegalic interstitial nephritis (KIN) is a rare genetic kidney disease associated with a mutation in FAN1 gene and is often underdiagnosed. The histomorphology demonstrates chronic interstitial nephritis with tubular epithelial cells showing bizarre enlarged nuclei. We present a case report of a...

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Vydáno v:Indian J Nephrol
Hlavní autoři: Koshy, Priyanka J., Sudhakar, Digumarthi V. S., Anupama, Sneha H., Mathew, Milly, Parthasarthy, Rajeevalochana, Thangaraj, Kumarasamy, Yaqoob, Muhammad Magdi, Abraham, Georgi
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer - Medknow 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7699658/
https://ncbi.nlm.nih.gov/pubmed/33273795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijn.IJN_278_19
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