In:
Physiological Reviews, American Physiological Society, Vol. 99, No. 3 ( 2019-07-01), p. 1575-1653
Abstract:
The identification of genes causing inherited kidney diseases yielded crucial insights in the molecular basis of disease and improved our understanding of physiological processes that operate in the kidney. Monogenic kidney disorders are caused by mutations in genes coding for a large variety of proteins including receptors, channels and transporters, enzymes, transcription factors, and structural components, operating in specialized cell types that perform highly regulated homeostatic functions. Common variants in some of these genes are also associated with complex traits, as evidenced by genome-wide association studies in the general population. In this review, we discuss how the molecular genetics of inherited disorders affecting different tubular segments of the nephron improved our understanding of various transport processes and of their involvement in homeostasis, while providing novel therapeutic targets. These include inherited disorders causing a dysfunction of the proximal tubule (renal Fanconi syndrome), with emphasis on epithelial differentiation and receptor-mediated endocytosis, or affecting the reabsorption of glucose, the handling of uric acid, and the reabsorption of sodium, calcium, and magnesium along the kidney tubule.
Type of Medium:
Online Resource
ISSN:
0031-9333
,
1522-1210
DOI:
10.1152/physrev.00008.2018
Language:
English
Publisher:
American Physiological Society
Publication Date:
2019
detail.hit.zdb_id:
1471693-8
SSG:
12
