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[Cystinuria and cystine kidney lithiasis. Diagnosis and therapeutic approach]
F Rousaud1, S Gracia, M Palacín
1Unidad de Litiasis, Servicio de Urología, Fundación Puigvert, Barcelona, España.
Insights
Cystinuria, a genetic disease affecting 1 in 7,000 newborns, causes cystine renal stones. Advances in genetics reveal its polygenic nature, aiding diagnosis and personalized treatment strategies for stone prevention.
Area of Science:
- Genetics and Molecular Biology
- Nephrology
- Metabolic Disorders
Context:
- Cystinuria is an autosomal recessive hereditary disease.
- It leads to cystine renal stones, impacting 1 in 7,000 newborns globally.
- Geographical distribution of cystinuria varies significantly.
Purpose:
- To review the diagnosis and treatment of cystinuria.
- To incorporate recent advances in genetics and molecular biology.
- To understand the polygenic origin and phenotyping of cystinuria.
Summary:
- Recent genetic research identified two genes responsible for cystinuria, indicating a polygenic origin.
- Cystinuria is classified into type 1 and non-type 1 based on genetic and biochemical, not clinical, differences.
- Therapeutic goals include eliminating calculi and preventing recurrence by targeting renal cystine pathophysiology.
Impact:
- Despite current treatments, some patients experience persistent stone formation.
- Clinical evaluation and genetic studies are crucial for accurate phenotyping.
- This review provides insights for improved management of cystinuria patients.
Objective:
Cystine renal stone is the only clinical consequence of cystinuria, an autosomal recessive hereditary disease that affects an average of 1 out of 7,000 newborns, and whose geographical distribution varies significantly. The diagnosis and treatment of this condition is reviewed in the light of the advances in genetics and molecular biology.
Methods:
The evolution of current knowledge about this disease is reviewed.
Results/Conclusions:
The advances over the last 8 years have led to the characterization, at the present time, of two genes responsible for this disease, which demonstrates its polygenic origin. By phenotype, cystinuria can be classified into two types: type 1 and non-type 1. Both types show genetic and biochemical, but not clinical differences. From the therapeutic viewpoint, the main objective is to eliminate existing calculi and, above all, prevent recurrence by acting on the pathophysiologic mechanisms of renal cystine. Experience shows that despite the correct use of our current therapeutic armamentarium and the application of the general guidelines discussed in this paper, some cystinuric patients still maintain an important stone-forming activity. Patient clinical evaluation and a genetic study of both patient and family will be decisive for phenotyping.