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A rare multisystemic disorder with chronic kidney disease: Karyomegalic interstitial nephritis due to homozygous FAN1 c.2260C>T variant.

Nephrology (Carlton, Vic.) - 1 Dec 2024

Guzel Dirim Merve, Dirim Ahmet Burak, Kaya Berker, Senkal Naci, Kalayci Tugba, Aslanger Ayca, Berker Neslihan, Kose Murat, Kilicaslan Isin, Yazici Halil

Abstract excerpt

Karyomegalic interstitial nephritis (KIN) is a rare entity associated with biallelic FAN1 (FANCD2/FANCI-Associated Nuclease 1) gene variants. In FAN1-related KIN, abnormal liver function tests and respiratory involvement are common, in addition to chronic kidney disease. Karyomegalic changes have also been reported in many other organs in patients with FAN1-related KIN in various studies. We report the case of a...

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Codon, Nonsense
Endodeoxyribonucleases
Exodeoxyribonucleases
Homozygote
Multifunctional Enzymes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nephritis, Interstitial

Renal Insufficiency, Chronic

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PMID: 39294548
DOI: 10.1111/nep.14394

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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