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The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis

Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting kidneys and other organs such as the eyes, endocr...

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Autores principales: Bondue, Tjessa, Kouraich, Anas, Berlingerio, Sante Princiero, Veys, Koenraad, Marie, Sandrine, Alsaad, Khaled O., Al-Sabban, Essam, Levtchenko, Elena, van den Heuvel, Lambertus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864853/
https://www.ncbi.nlm.nih.gov/pubmed/36674769
http://dx.doi.org/10.3390/ijms24021253
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author Bondue, Tjessa
Kouraich, Anas
Berlingerio, Sante Princiero
Veys, Koenraad
Marie, Sandrine
Alsaad, Khaled O.
Al-Sabban, Essam
Levtchenko, Elena
van den Heuvel, Lambertus
author_facet Bondue, Tjessa
Kouraich, Anas
Berlingerio, Sante Princiero
Veys, Koenraad
Marie, Sandrine
Alsaad, Khaled O.
Al-Sabban, Essam
Levtchenko, Elena
van den Heuvel, Lambertus
author_sort Bondue, Tjessa
collection PubMed
description Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting kidneys and other organs such as the eyes, endocrine system, muscles, and brain, and adult ocular cystinosis affecting only the eyes. Currently, elevated white blood cell (WBC) cystine content is the gold standard for the diagnosis of cystinosis. We present a patient with proteinuria at adolescent age and corneal cystine crystals, but only slightly elevated WBC cystine levels (1.31 ½ cystine/mg protein), precluding the diagnosis of nephropathic cystinosis. We demonstrate increased levels of cystine in skin fibroblasts and urine-derived kidney cells (proximal tubular epithelial cells and podocytes), that were higher than the values observed in the WBC and healthy control. CTNS gene analysis shows the presence of a homozygous missense mutation (c.590 A > G; p.Asn177Ser), previously described in the Arab population. Our observation underlines that low WBC cystine levels can be observed in patients with juvenile cystinosis, which may delay the diagnosis and timely administration of cysteamine. In such patients, the diagnosis can be confirmed by cystine measurement in slow-dividing cells and by molecular analysis of the CTNS gene.
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spelling pubmed-98648532023-01-22 The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis Bondue, Tjessa Kouraich, Anas Berlingerio, Sante Princiero Veys, Koenraad Marie, Sandrine Alsaad, Khaled O. Al-Sabban, Essam Levtchenko, Elena van den Heuvel, Lambertus Int J Mol Sci Case Report Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting kidneys and other organs such as the eyes, endocrine system, muscles, and brain, and adult ocular cystinosis affecting only the eyes. Currently, elevated white blood cell (WBC) cystine content is the gold standard for the diagnosis of cystinosis. We present a patient with proteinuria at adolescent age and corneal cystine crystals, but only slightly elevated WBC cystine levels (1.31 ½ cystine/mg protein), precluding the diagnosis of nephropathic cystinosis. We demonstrate increased levels of cystine in skin fibroblasts and urine-derived kidney cells (proximal tubular epithelial cells and podocytes), that were higher than the values observed in the WBC and healthy control. CTNS gene analysis shows the presence of a homozygous missense mutation (c.590 A > G; p.Asn177Ser), previously described in the Arab population. Our observation underlines that low WBC cystine levels can be observed in patients with juvenile cystinosis, which may delay the diagnosis and timely administration of cysteamine. In such patients, the diagnosis can be confirmed by cystine measurement in slow-dividing cells and by molecular analysis of the CTNS gene. MDPI 2023-01-09 /pmc/articles/PMC9864853/ /pubmed/36674769 http://dx.doi.org/10.3390/ijms24021253 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Bondue, Tjessa
Kouraich, Anas
Berlingerio, Sante Princiero
Veys, Koenraad
Marie, Sandrine
Alsaad, Khaled O.
Al-Sabban, Essam
Levtchenko, Elena
van den Heuvel, Lambertus
The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
title The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
title_full The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
title_fullStr The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
title_full_unstemmed The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
title_short The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis
title_sort pitfall of white blood cell cystine measurement to diagnose juvenile cystinosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864853/
https://www.ncbi.nlm.nih.gov/pubmed/36674769
http://dx.doi.org/10.3390/ijms24021253
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