ArticleClinical kidney journal2017
Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.
Article in Clinical kidney journal, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Functional characterization of genetic variants associated with rare inherited renal disorders in the Sri Lankan population.Molecular genetics and genomics : MGG · 2026Article
- Emerging Urinary Biomarkers and Innovative Technologies for the Early Detection and Personalized Management of Chronic Kidney Disease.International journal of molecular sciences · 2026Review
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in theGenes · 2024Article
- Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Journal of nephrology · 2023Article
- Kidney Disease Associated With Mono-allelicKidney medicine · 2023Article
- How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside.Journal of personalized medicine · 2022Review
- Tissue is the issue: when a second biopsy reveals the true diagnosis.Clinical kidney journal · 2021Article
- Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome.International journal of environmental research and public health · 2020Review
- MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy.Clinical kidney journal · 2019Article
- PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.American journal of human genetics · 2018Article
- Meso-American nephropathy: what we have learned about the potential genetic influence on chronic kidney disease development.Clinical kidney journal · 2018Article
- Potential and pitfalls in the genetic diagnosis of kidney diseases.Clinical kidney journal · 2017Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs. Consequently, it has also allowed the reclassification of diseases and has broadened the phenotypic spectrum of many classical IKDs. Various genetic, epigenetic and environmental factors may explain 'atypical' phenotypes. In this article, we examine different mechanisms that may contribute to phenotypic variability and also provide case examples that illustrate them. The aim of the article is to raise awareness, among nephrologists and geneticists, of rare presentations that IKDs may show, to facilitate diagnosis.
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