Resumen
Definição
História e exame físico
Principais fatores diagnósticos
- presença de fatores de risco
- rastreamento neonatal positivo
- ausência de eliminação de mecônio
- retardo do crescimento pôndero-estatural
- apetite voraz
- tosse produtiva
- infecção recorrente
- rinossinusite crônica
- anormalidades genitais masculinas
- hemoptise
Outros fatores diagnósticos
- fezes disabsortivas com esteatorreia
- baqueteamento digital
- refluxo gastroesofágico
- sibilo
- diâmetro anteroposterior (AP) aumentado do tórax
- história de pancreatite
- história de apendicite aguda
- hepatomegalia ou esplenomegalia
Fatores de risco
- história familiar de fibrose cística (FC)
- status de portador conhecido de ambos os pais
- etnia
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- teste do suor
- teste genético
Investigações a serem consideradas
- exames de imagem do seio nasal
- swab de orofaringe posterior
Algoritmo de tratamento
neonatos com íleo meconial/obstrução intestinal distal parcial
obstrução intestinal completa ou peritonite
infecção respiratória aguda
doença respiratória
doença gastrointestinal
Colaboradores
Autores
Samuel B. Goldfarb, MD
Professor of Pediatrics
Masonic Children's Hospital
University of Minnesota School of Medicine
Minneapolis
MN
Declarações
SBG declares a personal interest in the Cystic Fibrosis Therapeutic Development Network (TDN) involving multiple CF multicentred studies.
Pi Chun (Jennifer) Cheng, MD, MS
Assistant Professor of Pediatrics
Riley Hospital for Children
Indiana University School of Medicine
Indianapolis
IN
Declarações
PCC declares that she has no competing interests.
Maureen Banfe Josephson, DO
Assistant Professor of Pediatrics
The Children's Hospital of Philadelphia
Perelman School of Medicine at the University of Pennsylvania
Philadelphia
PA
Declarações
MBJ declares that she has no competing interests.
Agradecimentos
Dr Samuel B. Goldfarb, Dr Pi Chun (Jennifer) Cheng, and Dr Maureen Banfe Josephson would like to gratefully acknowledge Dr James L. Kreindler, a previous contributor to this topic.
Declarações
JLK declares that he has no competing interests.
Revisores
Sangeeta M. Bhorade, MD
Associate Professor of Medicine
Medical Director
Lung Transplant Program
University of Chicago Hospitals
Chicago
IL
Divulgaciones
SMB declares that she has no competing interests.
Alan Smyth, MA, MBBS, MRCP, MD, FRCPCH
Associate Professor & Reader in Child Health
Division of Child Health
University of Nottingham
Queens Medical Centre
Nottingham
UK
Divulgaciones
AS declares that he has no competing interests.
Agradecimiento de los revisores por pares
Los temas de BMJ Best Practice se actualizan de forma continua de acuerdo con los desarrollos en la evidencia y en las guías. Los revisores por pares listados aquí han revisado el contenido al menos una vez durante la historia del tema.
Divulgaciones
Las afiliaciones y divulgaciones de los revisores por pares se refieren al momento de la revisión.
Referencias
Artículos principales
Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017 Feb;181S:S4-15.e1.Texto completo Resumen
Mogayzel PJ Jr, Naureckas ET, Robinson KA, et al. Cystic fibrosis pulmonary guidelines. Chronic medications for maintenance of lung health. Am J Respir Crit Care Med. 2013 Apr 1;187(7):680-9.Texto completo Resumen
Flume PA, Robinson KA, O'Sullivan BP, et al; Clinical Practice Guidelines for Pulmonary Therapies Committee. Cystic fibrosis pulmonary guidelines: airway clearance therapies. Respir Care. 2009 Apr;54(4):522-37.Texto completo Resumen
Ramos KJ, Smith PJ, McKone EF, et al. Lung transplant referral for individuals with cystic fibrosis: Cystic Fibrosis Foundation consensus guidelines. J Cyst Fibros. 2019 May;18(3):321-33.Texto completo Resumen
Kapnadak SG, Dimango E, Hadjiliadis D, et al. Cystic Fibrosis Foundation consensus guidelines for the care of individuals with advanced cystic fibrosis lung disease. J Cyst Fibros. 2020 May;19(3):344-54.Texto completo Resumen
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
Differentials
- Discinesia ciliar primária
- Imunodeficiência primária
- Asma
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