Cystic fibrosis with normal sweat chloride concentration: case report

Filho, Luiz Vicente Ferreira da Silva; Bussamra, Maria Helena de Carvalho Ferreira; Nakaie, C. M. A.; Adde, Fabíola Villac; Rodrigues, Joaquim Carlos; Raskin, Salmo; Rozov, Tatiana

doi:10.1590/s0041-87812003000500005

Cited by 6 publications

(8 citation statements)

References 8 publications

(6 reference statements)

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“…The identification should be based on the presence of 1 or more items from the Initial criteria and another item from the laboratory criteria [4,7] (Table 3). Only 2% of infants are expected to remain undiagnosed or difficult to classify (limited clinical features, negative or inconclusive diagnostic tests) [4,8]. The initial criteria requires at least one phenotypic feature associated with CF.…”

Section: Discussionmentioning

confidence: 99%

Failure to Thrive: Bad Nutrition as a Double-Edged Sword - A Case Report

Rodrigues¹,

Rocha²,

Lima³

et al. 2017

Primary Health Care

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Section: Discussionmentioning

confidence: 99%

Failure to Thrive: Bad Nutrition as a Double-Edged Sword - A Case Report

Rodrigues¹,

Rocha²,

Lima³

et al. 2017

Primary Health Care

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“…Este teste mensura a quantidade de cloreto e sódio no suor e tem sensibilidade são considerados normais (1) . Apesar de este teste ser considerado "padrão ouro" no diagnóstico da FC, sabe-se, atualmente que, em 1 a 2 % dos indivíduos com a doença, as concentrações de cloreto no suor podem estar normais ou serem duvidosas (11) .…”

Section: Diagnósticounclassified

“…Clinicamente, a extensa disfunção das glândulas exócrinas, com alteração da qualidade das secreções respiratórias, digestivas e genitais, manifesta-se através de infecções pulmonares crônicas e recorrentes, insuficiência pancreática e infertilidade, entre outras alterações (2,11) . O diagnóstico é baseado nos achados clínicos, e confirmado pela demonstração laboratorial de concentrações anormalmente elevadas de cloreto no suor (> 60 mlEq/ l) (7,8,12) e pela análise genética (7,13) .…”

Section: Introductionunclassified

Canais Iônicos E Fibrose Cística

Coutinho¹,

Figueiredo²,

Tintino³

et al. 2014

Rev. Interf. FLS

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_________________________________________________________________________________ RESUMOIntrodução: A Fibrose Cística (FC) é uma doença autossômica recessiva letal, que acomete preferencialmente crianças brancas. Objetivo: Descrever e discutir os mecanismos moleculares envolvidos na FC. Materiais e métodos: Artigos obtidos nos bancos de dados internacionais SCIELO, PUBMED, BIOLINE, DOAJ e HIGHWIRE que tratam dos mecanismos moleculares envolvidos na FC. Resultados e discussões: Decorre de mutações no gene que codifica a proteína "regulador de condutância transmembrana da fibrose cística" (CFTR). Esta contribui para a regulação do fluxo iônico nas superfícies apicais das células epiteliais, e é um canal de cloreto. A fisiopatologia da FC envolve o bloqueio da secreção do cloreto através da membrana apical das células epiteliais glandulares, resultando em seu acúmulo intracelular, acompanhado do influxo de sódio e água para este compartimento. Como consequência, ocorre desidratação da superfície celular com formação de secreções espessas -características da doença. O diagnóstico é baseado na clínica, demonstração laboratorial de concentrações elevadas de cloreto no suor e análise genética. O tratamento inclui: fluidificação das vias aéreas, antibioticoterapia, broncodilatadores, suporte nutricional e reposição enzimas. Na tentativa de aumentar o efluxo epitelial de Cl -ou inibir o influxo do Na + , alvos moleculares podem ser atacados por diferentes drogas como reguladores de migração citoplasmática, ativadores da expressão gênica, entre outros, para o primeiro, e inativação dos ENaC (amilorida ou benzamil) ou inibição do influxo de sódio (ouabaína, digoxina ou loperamida). Considerações Finais: Novas modalidades terapêuticas e a detecção precoce da FC por genotipagem podem melhorar o prognóstico e a qualidade de vida dos afetados. Palavras -chave:Fibrose Cística, Canalopatias, CFTR, EnaC, F508. ABSTRACTIntroduction: Cystic Fibrosis (CF) is a lethal autossomic recessive disease occurring mainly in white kids. Objective: Describe and discuss the molecular mechanisms involved in the CF. Material and methods: article obtained from the international databanks SCIELO, PUBMED, BIOLINE, DOAJ and HIGHWIRE about the molecular mechanisms of CF. Results and discussions: Its due mutations on the gene of cystic fibrosis Transmembrane conductance regulator (CFTR). This protein contributes for the regulation of the ionic flow in the apical surfaces of the epithelial cells, and is a chloride canal. The physiopathology of the CF involves the blockade of the chloride secretion through the apical membrane of the epithelial cells, resulting in intracellular accumulation, followed by the sodium and water influx. As consequence will occur a dehidratation of the cellular surface with thick secretion. The diagnosis is based on the clinic, the laboratorial identification of high concentrations of chloride in the sweat and genetic analysis. The treatment includes: rehidratation of the airway, antibiothicotherapy, nutritional support and en...

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“…4,8,10,11,13 The discovery of these mutations has aided in diagnosis of CF when sweat chloride tests are unsuccessful or inconclusive. 3,14,15 In a few CF cases, gene analysis is the only conclusive diagnostic laboratory evidence, since certain mutations are associated with normal sweat chloride. 3,14,15 In the case of A.P.…”

mentioning

confidence: 99%

“…3,14,15 In a few CF cases, gene analysis is the only conclusive diagnostic laboratory evidence, since certain mutations are associated with normal sweat chloride. 3,14,15 In the case of A.P. and B.P., they both carried the I148T mutation, recently thought to be a CF diseasecausing mutation, and which occurs in approximately 6% of the population screened.…”

mentioning

confidence: 99%

Misdiagnosing cystic fibrosis in the era of gene analysis: Case reports

2005

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We present a scenario of how gene analysis plays a confusing role in the diagnosis of cystic fibrosis (CF). One of the two siblings we are presenting here was initially misdiagnosed as having CF, based on the two CF gene mutations identified by gene analysis. A CF gene study on the other sibling years later, however, led to further investigation and eventually to a change of diagnosis. As interesting and important as gene analysis is in CF, one must always look at each patient in the big picture. Included in the picture, in addition to the state-of-the-art genotype, is the phenotype, or (to simplify) the back-to-basic clinical manifestations.

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Cystic fibrosis with normal sweat chloride concentration: case report

Cited by 6 publications

References 8 publications

Failure to Thrive: Bad Nutrition as a Double-Edged Sword - A Case Report

Failure to Thrive: Bad Nutrition as a Double-Edged Sword - A Case Report

Canais Iônicos E Fibrose Cística

Misdiagnosing cystic fibrosis in the era of gene analysis: Case reports

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