Monogenic tubular salt and acid transporter disorders.
In this review I will briefly discuss two major categories of inherited renal tubular transport disorders: those primarily affecting sodium and potassium (whether retention or wasting), and the primary renal acidopathies. The kidney does not of course carry out any of its myriad homeostatic functions in a vacuum, and interactions with other systems form an important part of the overall picture. This is perhaps most marked in the context of salt homeostasis, where the endocrine system, particularly the mineralocorticoid axis and aldosterone, are closely dovetailed. While these disorders are in general rare, the insights gained in understanding their molecular bases have added significantly to our understanding of normal human physiology. The hope is that these findings may in the future prove relevant to the understanding and treatment of more common disorders.
Karet
Fiona E
FE
Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge, UK. fek1000@cam.ac.uk
D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D007684:Kidney Tubules / Q000503:physiopathology; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics / Q000502:physiology
D000254:Sodium-Potassium-Exchanging ATPase