FAN1

Genetic changes in the FAN1 gene cause a rare form of kidney disease called ‘Karyomegalic Interstitial Nephritis’ (KIN). Since its first description just over 50 years ago just a little over 100 cases have been reported in medical literature.

The clinical features of this rare disease include, chronic kidney disease with progression to kidney failure often in 4th or 5th decade of life, recurrent lung infections, lung fibrosis/bronchiectasis and abnormal liver function tests.

Due to the rarity of this disease we undertook a literature review of published cases and an international survey to capture previously unreported cases with the goal to better define the clinical and genetic features of this rare disease. We currently have work under review for publication which will be linked here when published.

Going forward we wish to create a registry of individuals with this rare disease.