Infantile Cystinosis

Bibliographic Details
Main Author: Castro, I
Publication Date: 2009
Other Authors: Neves, R
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.17/1181
Summary: Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause of death in children with cystinosis. Specific therapy with cysteamine (cystine -depleting agent) has changed the course of this disease. Instead of being fatal in childhood, it can nowadays be considered a multisystemic adult disorder. The authors report a case of a child diagnosed with Fanconi syndrome at 14 months of age and infantile cystinosis at 19 months of age in whom oral cysteamine treatment led to a good outcome during childhood.
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spelling Infantile CystinosisCistinoseCisteaminaAlfa-GlucosidasesCriançaHDE NEF PEDInfantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause of death in children with cystinosis. Specific therapy with cysteamine (cystine -depleting agent) has changed the course of this disease. Instead of being fatal in childhood, it can nowadays be considered a multisystemic adult disorder. The authors report a case of a child diagnosed with Fanconi syndrome at 14 months of age and infantile cystinosis at 19 months of age in whom oral cysteamine treatment led to a good outcome during childhood.Sociedade Portuguesa de Nefrologia e HipertensãoRepositório da Unidade Local de Saúde São JoséCastro, INeves, R2013-03-20T11:18:58Z20092009-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/1181enginfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-06T16:50:33Zoai:repositorio.chlc.pt:10400.17/1181Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T00:21:22.165084Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Infantile Cystinosis
title Infantile Cystinosis
spellingShingle Infantile Cystinosis
Castro, I
Cistinose
Cisteamina
Alfa-Glucosidases
Criança
HDE NEF PED
title_short Infantile Cystinosis
title_full Infantile Cystinosis
title_fullStr Infantile Cystinosis
title_full_unstemmed Infantile Cystinosis
title_sort Infantile Cystinosis
author Castro, I
author_facet Castro, I
Neves, R
author_role author
author2 Neves, R
author2_role author
dc.contributor.none.fl_str_mv Repositório da Unidade Local de Saúde São José
dc.contributor.author.fl_str_mv Castro, I
Neves, R
dc.subject.por.fl_str_mv Cistinose
Cisteamina
Alfa-Glucosidases
Criança
HDE NEF PED
topic Cistinose
Cisteamina
Alfa-Glucosidases
Criança
HDE NEF PED
description Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause of death in children with cystinosis. Specific therapy with cysteamine (cystine -depleting agent) has changed the course of this disease. Instead of being fatal in childhood, it can nowadays be considered a multisystemic adult disorder. The authors report a case of a child diagnosed with Fanconi syndrome at 14 months of age and infantile cystinosis at 19 months of age in whom oral cysteamine treatment led to a good outcome during childhood.
publishDate 2009
dc.date.none.fl_str_mv 2009
2009-01-01T00:00:00Z
2013-03-20T11:18:58Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.17/1181
url http://hdl.handle.net/10400.17/1181
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia e Hipertensão
publisher.none.fl_str_mv Sociedade Portuguesa de Nefrologia e Hipertensão
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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