Related Experiment Videos
[Cystinuria update: clinical, biochemical and genetic aspects]
J A Orts Costa1, A Zúñiga Cabrera, J Martínez de la Cára y Salmerón
1Area de diagnóstico Biológico. Hospital de la Ribera. Alzira, Valencia, Spain. jaorts@hospital-ribera.com
Anales De Medicina Interna (Madrid, Spain : 1984)
|July 10, 2003
Summary
Cystinuria is a rare genetic disorder causing kidney stones due to amino acid transport defects. Accurate diagnosis and management are crucial for preventing recurrent stone formation and complications.
Area of Science:
- Genetics
- Metabolic Disorders
- Nephrology
Background:
- Cystinuria is an inherited metabolic disorder affecting amino acid reabsorption.
- It leads to elevated urinary cystine and dibasic amino acids, causing kidney stones.
- First described in 1908, it's a classic inborn error of metabolism.
Purpose of the Study:
- To review current knowledge on cystinuria.
- To highlight the importance of pheno/genotyping for improved patient care.
- To discuss diagnosis, prevention, and treatment strategies.
Main Methods:
- Literature review of biochemical, genetic, clinical, and therapeutic aspects.
- Analysis of molecular findings identifying causative genes (SLC3A1, SLC7A9).
- Discussion of current prophylactic and therapeutic guidelines.
Main Results:
- Two genes, SLC3A1 and SLC7A9, are identified as responsible for cystinuria.
- Recurrent urolithiasis is the primary clinical manifestation due to cystine's low solubility.
- Despite prophylaxis, approximately 50% of patients develop recurrent stones, necessitating urological intervention.
Conclusions:
- Accurate pheno/genotyping is essential for tailored prophylaxis and therapy.
- Effective management requires high water intake, potassium citrate, and potentially thiol-derivatives.
- Surgical or urological approaches may be required for refractory cases.