Autosomal dominant tubulointerstitial kidney disease
Olivier Devuyst1,2, Eric Olinger3, Stefanie Weber4
1Institute of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland. olivier.devuyst@uzh.ch.
Nature Reviews. Disease Primers
|September 7, 2019
Summary
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a newly recognized group of rare genetic kidney diseases. Understanding its genetic basis and clinical features is crucial for diagnosis and management.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Autosomal dominant tubulointerstitial kidney disease (ADTKD) encompasses rare genetic kidney disorders.
- Characterized by tubular damage and interstitial fibrosis, leading to end-stage renal disease.
- Historically underdiagnosed due to inconsistent terminology.
Purpose of the Study:
- To provide a comprehensive overview of ADTKD.
- To highlight the genetic basis and clinical heterogeneity of ADTKD.
- To improve recognition and diagnosis of these monogenic kidney diseases.
Main Methods:
- Review of genetic databases and clinical literature.
- Analysis of gene mutations (UMOD, MUC1, REN, HNF1B, SEC61A1) and their encoded proteins.
- Correlation of genotype with clinical phenotypes.
Main Results:
- ADTKD is a significant cause of monogenic kidney disease, accounting for approximately 5% of cases.
- Mutations in at least five genes are implicated, affecting diverse renal and extra-renal functions.
- Clinical presentation can be subtle, often leading to missed family history and delayed diagnosis.
Conclusions:
- A unifying, gene-based terminology has improved ADTKD identification.
- Early diagnosis is essential for patient management and genetic counseling.
- Further research into ADTKD mechanisms can inform therapeutic strategies.
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