Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon, Nonsense
Share to Endodeoxyribonucleases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exodeoxyribonucleases

Share to Homozygote

Share to Multifunctional Enzymes

Share to Nephritis, Interstitial

Share to Pedigree

Share to Renal Insufficiency, Chronic

Source

Open in PubMed Open full text

Identifiers

PMID: 39294548
DOI: 10.1111/nep.14394
PMCID: PMC13546944

Genes

FAN1
KIN
FANCD2
FANCI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A rare multisystemic disorder with chronic kidney disease: Karyomegalic interstitial nephritis due to homozygous FAN1 c.2260C>T variant.PMID 39294548Read ↗

Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy.Semantic proximity Read ↗

Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis.Semantic proximity Read ↗

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.Semantic proximity Read ↗

FAN1 mutation and karyomegalic nephropathy in chronic kidney disease.Semantic proximity Read ↗

Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family.Semantic proximity Read ↗

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.Semantic proximity Read ↗

New Familial Cases of Karyomegalic Interstitial Nephritis With Mutations in the FAN1 GeneSemantic proximity Read ↗

A case of karyomegalic interstitial nephritis without FAN1 mutations in the setting of brentuximab, ifosfamide, and carboplatin exposure.Semantic proximity Read ↗

A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis.Semantic proximity Read ↗

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter.Semantic proximity Read ↗

A Case Report of a Patient with COQ8B Nephropathy Manifesting Atypical Renal Pathological Changes.Semantic proximity Read ↗

Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.