Ion channelopathies of the kidney and adrenal gland

Genetic kidney diseases represent a significant proportion of kidney diseases manifesting in childhood and adolescence, but are also gaining importance in slowly progressive or late-onset adult diseases. A significant portion of kidney diseases particularly in childhood are associated with end stage renal disease and/or other relevant morbidity. An early (molecular) diagnosis can be a prerequisite for a better prognostic assessment and provides opportunities in terms of optimized symptomatic therapy.Mechanistically speaking, mutations in ion channel-associated nephropathy represent-in addition to structural defects of the glomerular filter (e. g., COL4A3, LAMB2, nephrin) and disorders of signaling pathways that are relevant for the development of the urogenital tract (e. g., HNF1B, WT1)-a significant proportion of the group with respect to number and prototypes.Determination of the molecular genetics of (hypokalemic) salt-losing tubulopathies has contributed significantly to our understanding of the central role of the kidney in salt balance. The spectrum of renal ion channelopathies is shown using the example of classical salt-losing tubulopathies (Bartter syndrome and Gitelman syndrome), the transient receptor potential (TRP) channel group and the role of channel changes in aldosteronism and congenital hypertension.