Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone

Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood. It is rare to be diagnosed only with bladder stones and essential to select an operative procedure according to the age of the patient and the size...

Descripción completa

Detalles Bibliográficos
Autores principales: Okada, Tomoki, Taguchi, Kazumi, Kato, Taiki, Sakamoto, Shinichi, Ichikawa, Tomohiko, Yasui, Takahiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7644569/
https://www.ncbi.nlm.nih.gov/pubmed/33194555
http://dx.doi.org/10.1016/j.eucr.2020.101473
_version_ 1783606485734916096
author Okada, Tomoki
Taguchi, Kazumi
Kato, Taiki
Sakamoto, Shinichi
Ichikawa, Tomohiko
Yasui, Takahiro
author_facet Okada, Tomoki
Taguchi, Kazumi
Kato, Taiki
Sakamoto, Shinichi
Ichikawa, Tomohiko
Yasui, Takahiro
author_sort Okada, Tomoki
collection PubMed
description Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood. It is rare to be diagnosed only with bladder stones and essential to select an operative procedure according to the age of the patient and the size of the stone. We report the case of a 2-year-old boy with cystinuria diagnosed with a large bladder stone and investigate the efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation. Additional genetic analysis for the entire family revealed benefit for the life-span treatment of cystinuria.
format Online
Article
Text
id pubmed-7644569
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-76445692020-11-13 Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone Okada, Tomoki Taguchi, Kazumi Kato, Taiki Sakamoto, Shinichi Ichikawa, Tomohiko Yasui, Takahiro Urol Case Rep Pediatrics Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood. It is rare to be diagnosed only with bladder stones and essential to select an operative procedure according to the age of the patient and the size of the stone. We report the case of a 2-year-old boy with cystinuria diagnosed with a large bladder stone and investigate the efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation. Additional genetic analysis for the entire family revealed benefit for the life-span treatment of cystinuria. Elsevier 2020-10-28 /pmc/articles/PMC7644569/ /pubmed/33194555 http://dx.doi.org/10.1016/j.eucr.2020.101473 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Pediatrics
Okada, Tomoki
Taguchi, Kazumi
Kato, Taiki
Sakamoto, Shinichi
Ichikawa, Tomohiko
Yasui, Takahiro
Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone
title Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone
title_full Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone
title_fullStr Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone
title_full_unstemmed Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone
title_short Efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone
title_sort efficacy of transurethral cystolithotripsy assisted by percutaneous evacuation and the benefit of genetic analysis in a pediatric cystinuria patient with a large bladder stone
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7644569/
https://www.ncbi.nlm.nih.gov/pubmed/33194555
http://dx.doi.org/10.1016/j.eucr.2020.101473
work_keys_str_mv AT okadatomoki efficacyoftransurethralcystolithotripsyassistedbypercutaneousevacuationandthebenefitofgeneticanalysisinapediatriccystinuriapatientwithalargebladderstone
AT taguchikazumi efficacyoftransurethralcystolithotripsyassistedbypercutaneousevacuationandthebenefitofgeneticanalysisinapediatriccystinuriapatientwithalargebladderstone
AT katotaiki efficacyoftransurethralcystolithotripsyassistedbypercutaneousevacuationandthebenefitofgeneticanalysisinapediatriccystinuriapatientwithalargebladderstone
AT sakamotoshinichi efficacyoftransurethralcystolithotripsyassistedbypercutaneousevacuationandthebenefitofgeneticanalysisinapediatriccystinuriapatientwithalargebladderstone
AT ichikawatomohiko efficacyoftransurethralcystolithotripsyassistedbypercutaneousevacuationandthebenefitofgeneticanalysisinapediatriccystinuriapatientwithalargebladderstone
AT yasuitakahiro efficacyoftransurethralcystolithotripsyassistedbypercutaneousevacuationandthebenefitofgeneticanalysisinapediatriccystinuriapatientwithalargebladderstone

Ejemplares similares