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13.10.2022 | Original Article

Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening

verfasst von: Juan Alberto Piñero-Fernández, Carmen Vicente-Calderón, María José Lorente-Sánchez, María Jesús Juan-Fita, José María Egea-Mellado, Inmaculada C. González-Gallego

Erschienen in: Pediatric Nephrology | Ausgabe 5/2023

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Abstract

Background

Cystinuria is an inherited metabolic disease involving the defective transport of cystine and the dibasic amino acids in the renal proximal tubules that causes the formation of stones in the urinary system. In our regional child health program, cystinuria is included in newborn metabolic screening. Our objectives are the phenotypic characterization of our cystinuric pediatric cohort and to present our experience in neonatal cystinuria screening.

Methods

The study of clinical cases of pediatric patients diagnosed with cystinuria over a period of 32 years. All patients were studied at demographic, clinical, laboratory, radiological, and therapeutic levels.

Results

We diagnosed 86 pediatric patients with cystinuria; 36% of them had the homozygous biochemical phenotype. 95.3% of the patients were detected by neonatal metabolic screening. We performed urine biochemical analyses of parents with additional diagnoses of 63 adult patients. The mean follow-up time was 16.8 ± 8.5 years. 11.6% of patients developed one or more episodes of urinary tract infection during that period. Chronic kidney disease, proteinuria, and hypertension were uncommon (1.2%). 10.5% developed kidney stones at the mean age of presentation of 7.78 ± 7.6 years; 33% were recurrent. The risk of developing lithiasis was higher for homozygous biochemical-phenotype patients. Hypercalciuria was a significant risk factor in the development of lithiasis.

Conclusions

Our clinical data suggest that diagnosing cystinuria through neonatal screening could be a useful strategy for the detection of presymptomatic cases, in order to establish preventive measures, as well as for the detection of relatives at risk.

Graphical abstract

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Titel: Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening
verfasst von: Juan Alberto Piñero-Fernández
Carmen Vicente-Calderón
María José Lorente-Sánchez
María Jesús Juan-Fita
José María Egea-Mellado
Inmaculada C. González-Gallego
Publikationsdatum: 13.10.2022
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 5/2023
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-022-05732-w

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Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening