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

Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis.

BMC nephrology - 28 Feb 2020

Law Steven, Gillmore Julian, Gilbertson Janet A, Bass Paul, Salama Alan D

Abstract excerpt

BACKGROUND: Karyomegalic interstitial nephritis (KIN) is a rare hereditary cause of chronic kidney disease. It typically causes progressive renal impairment with haemoproteinuria requiring renal replacement therapy before 50 years of age. It has been associated with mutations in the Fanconi anaemia-associated nuclease 1 (FAN1) gene and has an autosomal recessive pattern of inheritance. Leukocyte chemotactic...

Read the complete abstract on PubMed

Topics

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

Share to Amyloidosis
Share to Early Diagnosis
Share to Endodeoxyribonucleases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exodeoxyribonucleases

Share to Intercellular Signaling Peptides and Proteins

Share to Karyotype

Share to Multifunctional Enzymes

Share to Nephritis, Interstitial

Source

Open in PubMed Open full text

Identifiers

PMID: 32111193
DOI: 10.1186/s12882-020-01733-9
PMCID: PMC7049196

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Karyomegalic interstitial nephritis with a novel FAN1 gene mutation and concurrent ALECT2 amyloidosis.PMID 32111193Read ↗

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

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

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

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

The evolving spectrum of kidney amyloidosis: advances in diagnosis, typing and treatmentSemantic proximity Read ↗

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

A Cautionary Tale: An Instructive Case of Recognising Non-Amyloid Light Chain Renal Amyloidosis.Semantic proximity Read ↗

Primary membranous nephropathy combined with ALECT-2 renal amyloidosis：a case reportSemantic proximity Read ↗

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

Fibronectin Glomerulopathy: A Case Report of Membranoproliferative Glomerulonephritis.Semantic proximity Read ↗

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