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Young Adults With Hereditary Tubular Diseases: Practical Aspects for Adult-Focused Colleagues
Khalid Alhasan1, Cynthia D'Alessandri-Silva2, Anil Mongia3
1Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Advances in Chronic Kidney Disease
|September 9, 2022
Summary
Young adults transitioning to adult care need guidance on rare kidney tubular diseases. This review details clinical signs, diagnostics, and management for conditions like cystinosis and Fanconi syndrome.
Area of Science:
- Nephrology
- Pediatric Nephrology
- Internal Medicine
Background:
- Advances in kidney disease management create a growing cohort of adolescents and young adults transitioning to adult care.
- While adult nephrology primarily focuses on glomerular diseases, rare tubular disorders are a significant concern in pediatric populations.
Purpose of the Study:
- To provide a comprehensive overview of kidney tubular diseases in young adults.
- To highlight clinical presentations, diagnostic workup (laboratory and imaging), and therapeutic strategies for these conditions.
Main Methods:
- Literature review focusing on clinical signs, symptoms, and diagnostic approaches for tubular kidney diseases.
- Discussion of common and syndromic tubular disorders relevant to young adults.
Main Results:
- Identification of key clinical manifestations and diagnostic markers for various tubular disorders.
- Overview of specific conditions including cystinosis, distal kidney tubular acidosis, and Bartter syndrome.
Conclusions:
- This review serves as a practical guide for diagnosing and managing kidney tubular diseases in young adults during their transition to adult-focused care.
- Emphasizes the importance of recognizing and addressing these rarer conditions in this specific patient population.
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