[Electrolyte disorders as a hallmark of monogenetic diseases]

In daily clinical practice, the term electrolyte generally refers to sodium, potassium, chloride, calcium, and magnesium ions. In addition to their many functions, such as neuronal and muscular transmission, some electrolytes also contribute to osmolality and maintenance of electrochemical gradients, which, in turn enable many transport processes. The absorption and reabsorption of electrolytes occurs via polarized cell assemblies, i.e., epithelia. Besides the intestine (absorption), the most important organ is the kidney. Here, following glomerular filtration, electrolytes are reabsorbed via trans- and paracellular mechanisms along the renal tubular system. In the past, the identification and elucidation of transport-associated monogenetic disorders has contributed tremendously to our understanding of the physiology and pathophysiology of such transport mechanisms. Sodium reabsorption mechanisms along the tubular system have been characterized by means of pharmacological compounds for a long time. However, only with the development of novel molecular genetic tools and approaches has it been possible to clarify the genetic basis of distinct diseases. As examples, we discuss here Bartter and Gitelman syndrome, and other sodium disorders such as pseudohypoaldosteronism and Liddle Syndrome. Diagnosis, clinical presentation, and therapy are briefly described. Furthermore, examples of magnesium homeostasis disorders are also presented, the molecular mechanisms and pathophysiology of which could also be characterized by the identification of different human mutations.