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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Recent advances in the molecular diagnosis of polycystic kidney disease
1a Center for Human Genetics , Bioscientia , Ingelheim , Germany.
Insights
Polycystic kidney disease (PKD) involves genetic variations affecting kidney function, leading to cyst formation. Genetic diagnosis is crucial for managing this common heritable kidney disorder and its related complications.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Polycystic kidney disease (PKD) is the most common inherited kidney disease, with autosomal dominant (ADPKD) and autosomal recessive (ARPKD) forms.
- PKD presents with clinical and genetic heterogeneity, often involving multisystemic and extrarenal abnormalities.
- Reduced dosage of disease-related proteins can lead to a more severe clinical course in PKD patients.
Purpose of the Study:
- To review the clinical and genetic heterogeneity of PKD.
- To highlight the role of genetic diagnosis in managing PKD and its comorbidities.
- To discuss the utility of next-generation sequencing (NGS) in diagnosing PKD.
Main Methods:
- Review of current literature on PKD genetics and clinical manifestations.
- Discussion of diagnostic approaches, including genetic testing.
- Analysis of the impact of genetic variations on disease severity and management.
Main Results:
- ADPKD is typically adult-onset, while ARPKD usually manifests in childhood.
- Phenotypic overlap exists between ADPKD and ARPKD, with variable onset.
- Genetic diagnosis aids in early detection of comorbidities and guides clinical management.
Conclusions:
- The genetic heterogeneity of PKD necessitates advanced diagnostic tools like NGS.
- Interpreting complex genetic data is challenging but essential for clinical benefit.
- Early and accurate genetic diagnosis improves patient outcomes and avoids unnecessary interventions.
Introduction:
Polycystic kidney disease (PKD) is clinically and genetically heterogeneous and constitutes the most common heritable kidney disease. Most patients are affected by the autosomal dominant form (ADPKD) which generally is an adult-onset multisystem disorder. By contrast, the rarer recessive form ARPKD usually already manifests perinatally or in childhood. In some patients, however, ADPKD and ARPKD can phenotypically overlap with early manifestation in ADPKD and only late onset in ARPKD. Progressive fibrocystic renal changes are often accompanied by severe hepatobiliary changes or other extrarenal abnormalities. Areas covered: A reduced dosage of disease proteins disturbs cell homeostasis and explains a more severe clinical course in some PKD patients. Cystic kidney disease is also a common feature of other ciliopathies and genetic syndromes. Genetic diagnosis may guide clinical management and helps to avoid invasive measures and to detect renal and extrarenal comorbidities early in the clinical course. Expert Commentary: The broad phenotypic and genetic heterogeneity of cystic and polycystic kidney diseases make NGS a particularly powerful approach. Interpretation of data becomes the challenge and bench and bedside benefit from digitized multidisciplinary interrelationships.
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