Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease

Detalhes bibliográficos
Autor(a) principal: Urbano, Filipa
Data de Publicação: 2021
Outros Autores: Salgado, Catarina, Leal, Inês, Vilarinho, Laura, Simão, Carla
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://doi.org/10.25754/pjp.2021.21307
Resumo: Cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications. Seventeen month old girl with normal development until 14 months, when parents noted polydipsia, polyuria and growth stagnation. Investigations performed in a tertiary setting were compatible with Fanconi Syndrome and X-ray with rickets. The hypothesis of diagnosis of infantile nephropathic cystinosis was raised. The high intra-leukocytic cystine and the genetic study confirmed the disease. Treatment with cysteamine was started. At 21 months, cystine eye crystals appeared and topical cysteamine was added. She is currently 3 years old, with a satisfactory weight and height progression, with a stable kidney disease, without progression of rickets and with asymptomatic eye crystals. A high degree of suspicion for this disease allows an early start of targeted therapy and an adequate follow-up, improving the prognosis of a disease with high morbility. Keywords: Cystinosis; Cysteamine; Fanconi Syndrome; Chronic Kidney Diseases; Growth disorders; Pediatrics
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spelling Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic DiseaseCase reportsCystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications. Seventeen month old girl with normal development until 14 months, when parents noted polydipsia, polyuria and growth stagnation. Investigations performed in a tertiary setting were compatible with Fanconi Syndrome and X-ray with rickets. The hypothesis of diagnosis of infantile nephropathic cystinosis was raised. The high intra-leukocytic cystine and the genetic study confirmed the disease. Treatment with cysteamine was started. At 21 months, cystine eye crystals appeared and topical cysteamine was added. She is currently 3 years old, with a satisfactory weight and height progression, with a stable kidney disease, without progression of rickets and with asymptomatic eye crystals. A high degree of suspicion for this disease allows an early start of targeted therapy and an adequate follow-up, improving the prognosis of a disease with high morbility. Keywords: Cystinosis; Cysteamine; Fanconi Syndrome; Chronic Kidney Diseases; Growth disorders; PediatricsA cistinose é uma doença autossómica recessiva rara que origina doença renal terminar e várias complicações extra renais. Menina de 17 meses, com um desenvolvimento adequado até aos 14 meses, quando os pais notaram polidipsia, poliúria e sensação de crescimento desadequado. A investigação realizada num centro hospitalar terciário foi compatível com Síndrome de Fanconi e a radiografia com raquitismo. A hipótese diagnóstica de cistinose nefropática infantil foi colocada. O nível elevado de cistina intraleucocitária e o estudo genético confirmaram a doença. O tratamento com cisteamina foi iniciado. Aos 21 meses, surgiram cristais oculares de cistina e adicionou-se cisteamina tópica. Atualmente, com 3 anos, a doente apresenta uma progressão estato-ponderal adequada, com doença renal crónica estável, sem progressão do raquitismo e com cristais oculares assintomáticos. O elevado nível de suspeição para esta doença permitiu o início precoce de terapêutica dirigida e o acompanhamento adequado, melhorando assim o prognóstico desta doença, com elevada morbilidade.Sociedade Portuguesa de Pediatria2021-11-03info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25754/pjp.2021.21307eng2184-44532184-3333Urbano, FilipaSalgado, CatarinaLeal, InêsVilarinho, LauraSimão, Carlainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-08-03T02:58:13Zoai:ojs.revistas.rcaap.pt:article/21307Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:25:36.413380Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
spellingShingle Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
Urbano, Filipa
Case reports
title_short Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_full Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_fullStr Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_full_unstemmed Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
title_sort Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease
author Urbano, Filipa
author_facet Urbano, Filipa
Salgado, Catarina
Leal, Inês
Vilarinho, Laura
Simão, Carla
author_role author
author2 Salgado, Catarina
Leal, Inês
Vilarinho, Laura
Simão, Carla
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Urbano, Filipa
Salgado, Catarina
Leal, Inês
Vilarinho, Laura
Simão, Carla
dc.subject.por.fl_str_mv Case reports
topic Case reports
description Cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications. Seventeen month old girl with normal development until 14 months, when parents noted polydipsia, polyuria and growth stagnation. Investigations performed in a tertiary setting were compatible with Fanconi Syndrome and X-ray with rickets. The hypothesis of diagnosis of infantile nephropathic cystinosis was raised. The high intra-leukocytic cystine and the genetic study confirmed the disease. Treatment with cysteamine was started. At 21 months, cystine eye crystals appeared and topical cysteamine was added. She is currently 3 years old, with a satisfactory weight and height progression, with a stable kidney disease, without progression of rickets and with asymptomatic eye crystals. A high degree of suspicion for this disease allows an early start of targeted therapy and an adequate follow-up, improving the prognosis of a disease with high morbility. Keywords: Cystinosis; Cysteamine; Fanconi Syndrome; Chronic Kidney Diseases; Growth disorders; Pediatrics
publishDate 2021
dc.date.none.fl_str_mv 2021-11-03
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 https://doi.org/10.25754/pjp.2021.21307
url https://doi.org/10.25754/pjp.2021.21307
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2184-4453
2184-3333
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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