Article
Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family.
International journal of molecular sciences - 29 May 2024
Császár Ildikó, Kalmár Tibor, Maróti Zoltán, Ávéd János, Szederkényi Edit, Zombori János, Pankotai-Bodó Gabriella, Turkevi-Nagy Sándor, Iványi Béla
Abstract excerpt
Pathogenic variants in the FAN1 gene lead to a systemic disease with karyomegalic interstitial nephritis (KIN) at the forefront clinically. The phenotypic-genotypic features of a FAN1 mutation-related disease involving five members of a Hungarian Caucasian family are presented. Each had adult-onset chronic kidney disease of unknown cause treated with renal replacement therapy and elevated liver enzymes. Short...
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