RT Journal Article
SR Electronic
T1 Inherited Tubulopathies of the Kidney
JF Clinical Journal of the American Society of Nephrology
JO CLIN J AM SOC NEPHROL
FD American Society of Nephrology
SP 620
OP 630
DO 10.2215/CJN.14481119
VO 16
IS 4
A1 Downie, Mallory L.
A1 Lopez Garcia, Sergio C.
A1 Kleta, Robert
A1 Bockenhauer, Detlef
YR 2021
UL http://cjasn.asnjournals.org/content/16/4/620.abstract
AB The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes. Inherited tubulopathies are characterized by impaired function of one or more of these specific transport molecules. The clinical consequences can range from isolated alterations in the concentration of specific solutes in blood or urine to serious and life-threatening disorders of homeostasis. In this review, we focus on genetic aspects of the tubulopathies and how genetic investigations and kidney physiology have crossfertilized each other and facilitated the identification of these disorders and their molecular basis. In turn, clinical investigations of genetically defined patients have shaped our understanding of kidney physiology.