{
  "abstract": "Introduction: Biallelic variants in Fanconi Anemia-associated Nuclease 1 (FAN1) cause karyomegalic tubulointerstitial nephropathy (KIN), a condition poorly characterized in terms of kidney survival, patient survival, and clinical characteristics. Therefore, we undertook a cross-sectional collaborative study to better characterize KIN-FAN1. Methods: To gather data, we distributed a REDCap survey on clinical characteristics and genetic variants of KIN-FAN1 to colleagues and case report authors. Results: Based on the survey, we identified 86 families affected (122 individuals) from 22 countries. There were 56 families (83 individuals) with a genetic diagnosis of KIN-FAN1, including 38 distinct FAN1 variants, and 30 families (39 individuals) with KIN with no predisposing risk factors and without molecular FAN1 testing. The median age at presentation was 38.5 years (interquartile range: 29-43), 62% male. Of the cohort, 46% had asymptomatic elevation of liver function tests, 39% had pulmonary complications, and 6% developed cancer. The median age of kidney failure was 45 years (95% confidence interval (CI): 38-56). Of the cohort, 27.1% died at a median age of 55 years (95% CI: 43-75). Pulmonary complications was/were the cause of death in 15.4% of patients on dialysis and 23.1% of kidney transplant recipients. Compared to other variants, patients with the p.W707X-FAN1 variant were at a significantly higher risk of pulmonary complications (adjusted odds ratio: 8.26 (95% CI: 1.7-40.1) and had a significantly shorter lifespan (hazard ratio: 3.24 (95% CI: 1.13-9.28). No genetic covariates were statistically associated with the progression to kidney failure. Conclusions: Patients with KIN-FAN1 develop kidney failure at a median age of 45 years. Survival is compromised with many dying of pulmonary disease.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 44,
  "authors": [
    {
      "name": "Michelle Clince"
    },
    {
      "name": "Elhussein A.E. Elhassan"
    },
    {
      "name": "Kendrah Kidd"
    },
    {
      "name": "Emily Malamud"
    },
    {
      "name": "Susan Mcanallen"
    },
    {
      "name": "Arbab Danial"
    },
    {
      "name": "Byung Ha Chung"
    },
    {
      "name": "Myungshin Kim"
    },
    {
      "name": "John Sayer"
    },
    {
      "name": "Intisar Al Alawi"
    },
    {
      "name": "Jelle Bernards"
    },
    {
      "name": "Mouna Jerbi"
    },
    {
      "name": "Rym Goucha"
    },
    {
      "name": "Lamia Ben Jemaa"
    },
    {
      "name": "Imen Rejeb"
    },
    {
      "name": "Chirag Patel"
    },
    {
      "name": "Andrew Mallett"
    },
    {
      "name": "C. John Sperati"
    },
    {
      "name": "Koen de Boeck"
    },
    {
      "name": "Maximilian Müller"
    },
    {
      "name": "Thomas Stehlé"
    },
    {
      "name": "Nisrine Bennani Guebessi"
    },
    {
      "name": "Thomas Robert"
    },
    {
      "name": "Bela Ivanyi"
    },
    {
      "name": "Ildiko Csaszar"
    },
    {
      "name": "Shirlee Shril"
    },
    {
      "name": "Sijie Zheng"
    },
    {
      "name": "Gerry George Mathew"
    },
    {
      "name": "Merve Guzel Dirim"
    },
    {
      "name": "Ahmet Burak Dirim"
    },
    {
      "name": "Laurent Mesnard"
    },
    {
      "name": "Lorraine Gueguen"
    },
    {
      "name": "Franz Schafer"
    },
    {
      "name": "Carsten Bergmann"
    },
    {
      "name": "Daniel Gale"
    },
    {
      "name": "Jan Halbritter"
    },
    {
      "name": "Kathleen Claes"
    },
    {
      "name": "Bertrand Knebelmann"
    },
    {
      "name": "Martina Živná"
    },
    {
      "name": "Stanislav Kmoch"
    },
    {
      "name": "Stanislas Faguer"
    },
    {
      "name": "Friedhelm Hildebrandt"
    },
    {
      "name": "Anthony Bleyer"
    },
    {
      "name": "Peter Conlon"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/90g1cp8c1h1m6.bib",
  "cited_by": 2,
  "doi": "10.1016/j.kint.2026.01.001",
  "fulltext_url": null,
  "id": "90g1cp8c1h1m6",
  "issns": [
    "0085-2538",
    "1523-1755"
  ],
  "landing_url": "https://hal.inrae.fr/hal-05723132v1",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "hal",
      "1.sdv.mhep"
    ],
    [
      "hal",
      "2.sdv.mhep.un"
    ],
    [
      "openalex",
      "1311|Genomics and Rare Diseases"
    ]
  ],
  "openalex": "W7125212365",
  "pdf_url": "https://hal.inrae.fr/hal-05723132/document",
  "pmcid": null,
  "pmid": "41565023",
  "published": "2026-09-02",
  "publisher": "Nature Publishing Group",
  "ris": "https://research.draconitic.com/paper/90g1cp8c1h1m6.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:27Z",
      "native_id": "hal-05723132",
      "source": "hal",
      "url": "https://hal.inrae.fr/hal-05723132v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomics and Rare Diseases",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy",
  "title_text": "Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:27Z",
  "url": "https://research.draconitic.com/paper/90g1cp8c1h1m6",
  "venue": "Kidney International",
  "versions": []
}