The kidneys, which regulate many homeostatic pathways, are also a major endocrinological target organ. Many genetic renal diseases can be classified according to the affected protein along such endocrinological pathways. In this review, we examine the hypothesis that a more severe phenotype is expected as the affected protein is located more distally along such pathways. Thus, the location of a defect along its endocrinological pathway should be taken into consideration, in addition to the mutation type, when assessing genetic renal disease severity.
- Gain of function
- Loss of function