Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy
Patients with KIN-FAN1 develop kidney failure at a median age of 45 years. Survival is compromised with many dying of pulmonary disease.
Authors
- Lorraine Gueguen
- Jan Halbritter (ORCID: https://orcid.org/0000-0002-1377-9880)
- Ahmet Burak Dirim (ORCID: https://orcid.org/0000-0003-2262-8627)
- Carsten Bergmann (ORCID: https://orcid.org/0000-0002-6061-9759)
- Lamia Ben Jemâa
- Bertrand Knebelmann (ORCID: https://orcid.org/0000-0002-8115-7303)
- Elhussein A. Elhassan (ORCID: https://orcid.org/0000-0002-8689-8602)
- Susan McAnallen
- Kathleen Claes
- Daniel P. Gale (ORCID: https://orcid.org/0000-0002-9170-1579)
- Emily Malamud
- N. Bennani Guebessi (ORCID: https://orcid.org/0000-0001-5057-6567)
- Shirlee Shril (ORCID: https://orcid.org/0000-0003-4218-7566)
- Bela Ivanyi
- Merve Güzel Dirim (ORCID: https://orcid.org/0000-0002-6065-4423)
- Imen Rejeb (ORCID: https://orcid.org/0000-0002-2826-1910)
- K. De Boeck
- Gerry George Mathew
- Rym Goucha
- Anthony J. Bleyer
- Myungshin Kim
- Thomas Robert
- Arbab Danial
- Maximilian Müller
- Intisar Al Alawi
- Friedhelm Hildebrandt
- Martina Živná
- C.John Sperati
- Franz Schafer
- Stanislav Kmoch
- Peter J. Conlon
- Ildiko Csaszar
- John A. Sayer
- Thomas Stehlé
- Byung Ha Chung
- Kendrah Kidd
- Jelle Bernards
- Mouna Jerbi
- Chirag Patel
- Laurent Mesnard
- Sijie Zheng
- Andrew J. Mallett
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Boston Children's Hospital (US)
- Kaiser Permanente (US)
- Harvard University (US)
- Royal College of Surgeons in Ireland (IE)
- SRM Institute of Science and Technology (IN)
- Johns Hopkins University (US)
- Inserm (FR)
- University of Lucerne (CH)
- Délégation Paris 7 (FR)
- Université Fédérale de Toulouse Midi-Pyrénées (FR)
- Université Paris-Est Créteil (FR)
- Aix-Marseille Université (FR)
- Heidelberg University (DE)
- University of Szeged (HU)
- Royal Brisbane and Women's Hospital (AU)
- Johns Hopkins Medicine (US)
- Townsville Hospital (AU)
- Beaumont Hospital (IE)
- Kaiser Permanente Oakland Medical Center (US)
- University Hospital Heidelberg (DE)
- Humboldt-Universität zu Berlin (DE)
- Sorbonne Université (FR)
- Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital Mongi Slim (TN)
- Laboratoire de Chimie Moléculaire (FR)
- ZNA Middelheim Hospital (BE)
- Hôpital Saint Joseph (FR)
- Hôpitaux Universitaires Henri-Mondor (FR)
- Colorado Permanente Medical Group (US)
- Royal Hospital (OM)
- NIHR Newcastle Biomedical Research Centre (GB)
- Magyar Madártani és Természetvédelmi Egyesület (HU)
- Ziekenhuisnetwerk Antwerpen Stuivenberg (BE)
- St. James's Hospital (IE)
- Institut Mondor de Recherche Biomédicale (FR)
- The Catholic University of Korea Seoul St. Mary's Hospital (KR)
- Institut Louis Malardé (PF)
- University College London (GB)
- Wake Forest University (US)
- Tunis El Manar University (TN)
- Istanbul University (TR)
- KU Leuven (BE)
Publication Details
- Journal
- Kidney International
- Published
- 2026-01-21
- DOI
- https://doi.org/10.1016/j.kint.2026.01.001
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 0.00