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Pilot screening programme for cystinuria in the Valencian community
M L Cabello-Tomás1, A M García-Gómez, M L Guillén-Domínguez
1Departamento de Biopatología Clínica, Hospital Universitario La Fe, Valencia, Spain.
European Journal of Epidemiology
|October 30, 1999
Summary
Cystinuria, a kidney and intestine disorder, affects amino acid transport. A pilot study in the Valencian Community found the incidence of cystinuria to be 1:1887, identifying subjects at risk for cystine stones.
Area of Science:
- Medical Genetics
- Nephrology
- Biochemistry
Background:
- Cystinuria is an inherited disorder affecting kidney and intestinal amino acid transport.
- Elevated cystine levels can lead to kidney stone formation, particularly in acidic urine.
- Existing literature shows wide variations in cystinuria incidence rates globally.
Purpose of the Study:
- To determine the incidence of cystinuria in the Valencian Community through a pilot screening program.
- To evaluate the effectiveness of Thin Layer Chromatography (TLC) for newborn screening of cystinuria.
Main Methods:
- Utilized urine filter paper samples from 33,995 newborns for initial screening via TLC.
- Confirmed positive cases using TLC and the cyanide-nitroprusside test (CNT) on liquid samples.
- Final diagnosis involved High-Performance Liquid Chromatography (HPLC) to quantify specific amino acids in persistent positive cases.
Main Results:
- Identified an incidence rate of 1:1887 for subjects at risk of cystine stones in the Valencian Community.
- Thin Layer Chromatography (TLC) demonstrated reliability for large-scale newborn screening.
- The study established a baseline incidence for this population.
Conclusions:
- The incidence of cystinuria risk in the Valencian Community is 1:1887.
- TLC is a dependable method for widespread newborn screening for cystinuria.
- Further research into haplotypes is recommended for precise typing of cystinuria in this population.