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Updated: Jun 2, 2025
07:35
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
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Tuberous sclerosis complex-associated kidney disease in children.
Matko Marlais1,2, Djalila Mekahli3,4
1Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK. m.marlais@ucl.ac.uk.
Pediatric Nephrology (Berlin, Germany)
|January 15, 2025
Summary
Tuberous sclerosis complex (TSC) kidney disease management in children is detailed in new 2024 guidelines. This review uses clinical cases to explain hypertension, imaging, and TSC2-PKD1 management for pediatric nephrologists.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Tuberous sclerosis complex (TSC) is an autosomal dominant disorder affecting multiple organs, including the kidneys.
- Kidney manifestations in children with TSC commonly include angiomyolipomata (AML) and cysts, potentially leading to hypertension and, rarely, reduced function.
- Recent 2024 guidelines offer updated management strategies for TSC-associated kidney disease in pediatric and adult populations.
Purpose of the Study:
- To summarize key clinical aspects of the 2024 Tuberous sclerosis complex-associated kidney disease guidelines.
- To provide practical insights for pediatric nephrologists managing TSC in children.
- To address challenging clinical scenarios within TSC-associated kidney disease.
Main Methods:
- Educational review format utilizing four distinct clinical case studies.
- Focus on practical application of the 2024 guidelines for pediatric nephrology practice.
- Discussion of specific management issues including hypertension, follow-up frequency, and imaging protocols.
Main Results:
- Case studies illustrate the application of new guidelines for managing hypertension in pediatric TSC patients.
- Guidance is provided on determining appropriate follow-up and kidney imaging frequencies.
- Management strategies for complex cases like TSC2-PKD1 contiguous gene syndrome and large pediatric AMLs are presented.
Conclusions:
- The 2024 guidelines provide a framework for optimizing care in pediatric Tuberous sclerosis complex kidney disease.
- Clinical case examples facilitate understanding and implementation of updated management recommendations.
- Addressing specific challenges ensures comprehensive care for children with TSC-related kidney issues.
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