ArticleJornal brasileiro de nefrologia2020
Rare inherited kidney diseases: an evolving field in Nephrology.
Article in Jornal brasileiro de nefrologia, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed.
- Features and management of kidney manifestations of tuberous sclerosis complex: a real-world study in a Brazilian patient cohort.BMC nephrology · 2026Observational
- Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.Molecular and cellular pediatrics · 2025Article
- Article
- Case Report: Wide spectrum ofFrontiers in pediatrics · 2025Article
- Tuberous Sclerosis Complex and the kidneys: what nephrologists need to know.Jornal brasileiro de nefrologia · 2024Review
- Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.Frontiers in genetics · 2022Article
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5 authors.
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Abstract
There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has become more accessible, our understanding of the underlying pathophysiologic mechanisms of these diseases has evolved, and new therapeutic strategies have become more available. Therefore, the role of nephrologists has progressively shifted from a mere spectator to an active player, part of a multidisciplinary team in the diagnosis and treatment of these disorders. This article provides an overview of the recent advances in rare hereditary kidney disorders by discussing the genetic aspects, clinical manifestations, diagnostic, and therapeutic approaches of some of these disorders, named familial focal and segmental glomerulosclerosis, tuberous sclerosis complex, Fabry nephropathy, and MYH-9 related disorder.
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