Genetic renal disease classification by hormonal axes

Bar Rotem-Grunbaum, Daniel Landau

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)2211-2219
Number of pages9
JournalPediatric Nephrology
Volume35
Issue number12
DOIs
StatePublished - 1 Dec 2020

Keywords

  • Axis
  • Endocrine
  • Gain of function
  • Genetic
  • Hormonal
  • Kidney
  • Loss of function

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