[Cystinosis in adults: A systemic disease]

Area of Science:

• Genetics and rare diseases
• Lysosomal storage disorders
• Nephrology

Background:

• Cystinosis is an autosomal recessive lysosomal storage disorder.
• It results from defective cystine transport, leading to cystine accumulation.
• The infantile form causes proximal tubulopathy, corneal crystals, and progressive kidney failure, often leading to end-stage renal disease.

Purpose of the Study:

• To review current knowledge on cystinosis.
• To provide guidance for adult nephrologists managing cystinosis patients.
• To highlight the importance of multidisciplinary care for this multisystemic disorder.

Main Methods:

• Literature review of cystinosis.
• Synthesis of current clinical knowledge and treatment strategies.
• Focus on adult nephrology perspectives.

Main Results:

• Cystinosis affects multiple organ systems, including kidneys, eyes, endocrine, neuromuscular, and central nervous systems.
• Cysteamine treatment and renal transplantation have significantly improved patient survival.
• Disease management requires a multidisciplinary team approach, with nephrologists playing a key role.

Conclusions:

• Cystinosis management has evolved, with improved outcomes due to advanced treatments.
• Adult nephrologists are increasingly involved in managing cystinosis patients.
• Comprehensive, multidisciplinary care is essential for optimizing patient outcomes and managing diverse complications.