Karyomegalic interstitial nephritis (KIN), a rare genetic disease, was described in 1974 for the first time. It is termed as a systemic disease, with the presence of tubular Karyomegaly. Interestingly, less than 50 cases are reported worldwide. This article describes an unusual case of KIN with elevated liver enzymes, recurrent pulmonary infection, and a novel mutation of the gene leading to the disease. Case Presentation 1 A 58-year-old man was presented to the nephrology department with progressive renal disease.
He did not have hypertension or diabetes. History 1 The patient previously had one episode of hepatitis with an unclear origin at the age of 38, gastro-intestinal specific complaints, and recurrent pulmonary infections. He had no relevant familial or personal history of renal disease. The patient reported being potentially exposed to ionizing radiation in Ukraine during his…