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Genetic renal disease classification by hormonal axes

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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.

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  1. Department of Pediatrics B, Schneider Children’s Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

    Bar Rotem-Grunbaum & Daniel Landau

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  1. Bar Rotem-Grunbaum
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Rotem-Grunbaum, B., Landau, D. Genetic renal disease classification by hormonal axes. Pediatr Nephrol 35, 2211–2219 (2020). https://doi.org/10.1007/s00467-019-04437-x

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