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

Institutions

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
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy

Lorraine Gueguen, Jan Halbritter, Ahmet Burak Dirim, Carsten Bergmann et al.
Kidney International
Renal Diseases and Glomerulopathies
article

Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy

Lorraine Gueguen, Jan Halbritter, Ahmet Burak Dirim, Carsten Bergmann, Lamia Ben Jemâa, Bertrand Knebelmann, Elhussein A. Elhassan, Susan McAnallen, Kathleen Claes, Daniel P. Gale, Emily Malamud, N. Bennani Guebessi, Shirlee Shril, Bela Ivanyi, Merve Güzel Dirim, Imen Rejeb, 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
article en

Abstract

Patients with KIN-FAN1 develop kidney failure at a median age of 45 years. Survival is compromised with many dying of pulmonary disease.

Kidney InternationalVol. 109(4)
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)
Good health and well-being
Openalex Percentile: Top 84%
Renal Diseases and Glomerulopathies
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.