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Inherited Renal Tubulopathies—Challenges and Controversies

2020; Multidisciplinary Digital Publishing Institute; Volume: 11; Issue: 3 Linguagem: Inglês

10.3390/genes11030277

2073-4425

Daniela Iancu, Emma Ashton,

Renal and related cancers

Electrolyte homeostasis is maintained by the kidney through a complex transport function mostly performed by specialized proteins distributed along the renal tubules. Pathogenic variants in the genes encoding these proteins impair this function and have consequences on the whole organism. Establishing a genetic diagnosis in patients with renal tubular dysfunction is a challenging task given the genetic and phenotypic heterogeneity, functional characteristics of the genes involved and the number of yet unknown causes. Part of these difficulties can be overcome by gathering large patient cohorts and applying high-throughput sequencing techniques combined with experimental work to prove functional impact. This approach has led to the identification of a number of genes but also generated controversies about proper interpretation of variants. In this article, we will highlight these challenges and controversies.