When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Doença granulomatosa crônica

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Last reviewed: 30 Apr 2025
Last updated: 01 Apr 2022

Summary

Definition

History and exam

Key diagnostic factors

  • presença de fatores de risco
  • história de infecções prévias
  • dispneia
  • dor perianal
  • dor no flanco
  • lesões vermelhas da pele
  • exames torácicos anormais
  • calafrios
  • febre
  • linfadenopatia crônica
  • baixo crescimento
  • dor nas articulações
  • dor facial
  • lesões coriorretinianas
  • cicatrização desfigurante da pele
Full details

Other diagnostic factors

  • fadiga
  • diarreia
  • dor abdominal
  • tosse
  • anorexia
  • artralgias
  • náuseas e vômitos
  • hematúria
  • fluxo urinário anormal
  • hepatoesplenomegalia
  • história familiar de lúpus discoide
  • úlcera oral
  • erupção cutânea
Full details

Risk factors

  • história familiar de doença granulomatosa crônica
  • idade <5 anos
  • sexo masculino
  • inativação anormalmente distorcida do cromossomo X nos portadores da forma ligada ao cromossomo X
  • polimorfismos da mieloperoxidase e dos FCgammaRIIIb
Full details

Diagnostic investigations

1st investigations to order

  • Hemograma completo
  • Velocidade de hemossedimentação (VHS)
  • proteína C-reativa
  • calprotectina fecal
  • tomografia computadorizada (TC) do tórax
  • TC ou ultrassonografia para infecção ativa
  • tomografia por emissão de pósitrons (PET) com fluordesoxiglucose (FDG) F-18 de corpo inteiro
  • ressonância nuclear magnética (RNM)
  • colonoscopia
  • testes de função pulmonar
  • teste do nitroazul de tetrazólio (NBT)
  • teste da di-hidrorodamina (DHR) 123
Full details

Investigations to consider

  • sequenciamento genético para os genes codificando os componentes da nicotinamida adenina dinucleotídeo fosfato-oxidase (NADPH oxidase)
  • Western blotting
  • análise da citometria de fluxo dos componentes individuais da NADPH oxidase
Full details

Treatment algorithm

INITIAL

infecção ativa sem risco de vida: na primeira apresentação

infecção ativa com risco de vida: na primeira apresentação

ACUTE

após o tratamento empírico inicial

ONGOING

após resolução de episódio agudo

Contributors

Authors

David Lowe, MA, MB Bchir, PhD, FRCP

Consultant Clinical Immunologist

The Royal Free Hospital

London

UK

Disclosures

DL has received travel and subsistence costs for consultancy work from CSL Behring and has participated in an advisory board for Merck.

Acknowledgements

Dr David Lowe would like to gratefully acknowledge Dr Adrian Thrasher, Dr Rebecca A. Marsh, and Dr Jack J. Bleesing, previous contributors to this topic. AT is an author of a number of references cited in this topic. RAM and JJB declare that they have no competing interests. Dr Rebecca A. Marsh and Dr Jack J. Bleesing wish to thank Dan Marmer, Carrie Koenig, and the Cincinnati Children's Hospital Clinical Diagnostic Immunology Lab. They also wish to thank Steven M. Holland, MD, Thomas Fleisher, MD, and Anthony Segal, MD, PhD, for helpful correspondence.

Peer reviewers

Steven M. Holland, MD

Laboratory of Clinical Infectious Diseases

National Institute of Allergy and Infectious Diseases

NIH

Bethesda

MD

Disclosures

SMH declares that he has no competing interests.

Andrew Gennery, MD

Reader in Paediatric Immunology & HSCT

Institute of Cellular Medicine

Medical School

Newcastle University

Newcastle-upon-Tyne

UK

Disclosures

AG is an author of a reference cited in this topic. AG declares that he has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Thomsen IP, Smith MA, Holland SM, et al. A comprehensive approach to the management of children and adults with chronic granulomatous disease. J Allergy Clin Immunol Pract. 2016 Nov-Dec;4(6):1082-8. Abstract

Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Doença granulomatosa crônica images

  • Differentials

    • deficiência da adesão leucocitária tipo I
    • deficiência de glicose-6-fosfato desidrogenase
    • deficiência de mieloperoxidase
    More Differentials

  • Guidelines

    • Chronic granulomatous disorder: a guide for medical professionals
    • Practice parameter for the diagnosis and management of primary immunodeficiency
    More Guidelines

  • Patient information

    Impetigo

    More Patient information
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer