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Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant

OBJECTIVE: To report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population. METHODS: Retrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis. RESULTS: A Chinese Zang ethnic girl could not stand o...

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Autores principales: Guan, Yu-Jia, Guo, Yan-Nan, Peng, Wen-Tao, Liu, Li-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051362/
https://www.ncbi.nlm.nih.gov/pubmed/35498770
http://dx.doi.org/10.3389/fped.2022.860990
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author Guan, Yu-Jia
Guo, Yan-Nan
Peng, Wen-Tao
Liu, Li-Li
author_facet Guan, Yu-Jia
Guo, Yan-Nan
Peng, Wen-Tao
Liu, Li-Li
author_sort Guan, Yu-Jia
collection PubMed
description OBJECTIVE: To report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population. METHODS: Retrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis. RESULTS: A Chinese Zang ethnic girl could not stand or walk until 3 years old, with additional symptoms including a loss of appetite. Since then, the girl gradually exhibited “X” leg, double wrist joints, a bilateral ankle deformity, and rickets. At the age of 9 years, the girl was hospitalized. Laboratory testing showed that her blood phosphorus, blood calcium and blood potassium levels were significantly decreased. At the same time, the girl's urine glucose and urine protein were positive, although her fasting blood glucose, glycosylated hemoglobin, and 75 g glucose tolerance were not significantly abnormal. Further, blood gas analysis showed metabolic acidosis. These symptoms corresponded to Fanconi syndrome. Gene analysis showed that there was a homozygous pathogenic variant c.140 ≤ 5G > A (p.?) in the CTNS gene, which was a small variation in the intron region. To our knowledge, this is the first report of the rare variant. CONCLUSION: Attention should be paid to the differential diagnosis of cystinosis by gene analysis in children whose clinical manifestations include exercise dysplasia, renal damage, or multiple organ damage (including bone, thyroid, etc) and who cannot be firmly diagnosed for the time being.
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spelling pubmed-90513622022-04-30 Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant Guan, Yu-Jia Guo, Yan-Nan Peng, Wen-Tao Liu, Li-Li Front Pediatr Pediatrics OBJECTIVE: To report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population. METHODS: Retrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis. RESULTS: A Chinese Zang ethnic girl could not stand or walk until 3 years old, with additional symptoms including a loss of appetite. Since then, the girl gradually exhibited “X” leg, double wrist joints, a bilateral ankle deformity, and rickets. At the age of 9 years, the girl was hospitalized. Laboratory testing showed that her blood phosphorus, blood calcium and blood potassium levels were significantly decreased. At the same time, the girl's urine glucose and urine protein were positive, although her fasting blood glucose, glycosylated hemoglobin, and 75 g glucose tolerance were not significantly abnormal. Further, blood gas analysis showed metabolic acidosis. These symptoms corresponded to Fanconi syndrome. Gene analysis showed that there was a homozygous pathogenic variant c.140 ≤ 5G > A (p.?) in the CTNS gene, which was a small variation in the intron region. To our knowledge, this is the first report of the rare variant. CONCLUSION: Attention should be paid to the differential diagnosis of cystinosis by gene analysis in children whose clinical manifestations include exercise dysplasia, renal damage, or multiple organ damage (including bone, thyroid, etc) and who cannot be firmly diagnosed for the time being. Frontiers Media S.A. 2022-04-15 /pmc/articles/PMC9051362/ /pubmed/35498770 http://dx.doi.org/10.3389/fped.2022.860990 Text en Copyright © 2022 Guan, Guo, Peng and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Guan, Yu-Jia
Guo, Yan-Nan
Peng, Wen-Tao
Liu, Li-Li
Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
title Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
title_full Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
title_fullStr Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
title_full_unstemmed Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
title_short Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant
title_sort case report: cystinosis in a chinese child with a novel ctns pathogenic variant
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051362/
https://www.ncbi.nlm.nih.gov/pubmed/35498770
http://dx.doi.org/10.3389/fped.2022.860990
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