Atypical Case of Chronic Granulomatous Disease: A Case Report

Wilian Luan Pilatti Sant'Ana,Ney Noronha Raffin,Bruno Martini De Azevedo

doi:10.36648/1989-5216.12.3.311

Abstract

Background: Chronic Granulomatous Disease (CGD) is a heterogeneous clinical presentation immunodeficiency, whose origin can be autosomal recessive or X-linked. In this pathology there is a deficiency in the effector mechanisms of phagocytes. Case study: A review of the patient's medical records was performed, as well as the currently available bibliography. The case report presented is of an 8-year-old male patient, who had a history of recurrent respiratory infections and ICU admissions since 3 years old, being diagnosed with atypical presentation of CGD at 5 years old, and managed with standard prophylactic treatment based on sulfamethoxazole-trimethoprim (SMX-TMP). Conclusion: CGD has a wide range of symptoms, so treatment should be guided based on each patient. In the presented case, the patient is being treated with a prophylactic combination of Itraconazole and SMX-TMP. Besides, we are still awaiting judicial clearance by the Brazilian National Health System (SUS) for financial support for IFN-gamma (IFN-γ), which is recommended as prophylactic treatment.

Highlights

Chronic Granulomatous Disease (CGD) is an inherited primary immunodeficiency disease (PIDD) which increases the body's susceptibility to infections caused by certain bacteria and fungi
CGD has a wide range of symptoms, so treatment should be guided based on each patient
The patient is being treated with a prophylactic combination of itraconazole and SMX-TMP

Summary

Introduction

Chronic Granulomatous Disease (CGD) is an inherited primary immunodeficiency disease (PIDD) which increases the body's susceptibility to infections caused by certain bacteria and fungi. Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. A respiratory evaluation was performed through radiological exams, which indicated chronic pneumopathy. In December of the same year, he had a routine consultation with a pulmonologist, and there was an impression of recurrent TB, due to clinical and radiological worsening. He underwent the complete treatment with anti-TB drugs once again, until June 2016. A DHR phagocytosis test was performed, in which the diagnosis of CGD was confirmed, through the comparison between control (98.8%) and patient results (6.7%)

Findings

Conclusion

Discussion