Diagnosis of acute Q fever using targeted next‑generation sequencing: A case report

Abstract

Acute Q fever, caused by Coxiella burnetii , is a zoonotic infection presenting with non-specific symptoms such as high fever, severe headache and myalgia, making it challenging to diagnose. Traditional diagnostic methods often fall short due to their time-consuming nature and limited sensitivity. A 26-year-old male presented with severe headache, persistent high fever and nausea following a hiking trip. Initial tests, including serology and PCR, were inconclusive. Targeted next-generation sequencing (tNGS) identified C. burnetii within 24 h, leading to a prompt diagnosis of acute Q fever. This rapid identification facilitated the initiation of appropriate antibiotic therapy, resulting in significant clinical improvement. This case underscores the diagnostic utility of tNGS in rapidly identifying rare pathogens and highlights its potential to influence clinical decision-making and improve patient outcomes. This case highlights the effectiveness of tNGS in diagnosing acute Q fever, particularly in regions where the disease is uncommon. The use of tNGS facilitated rapid identification and treatment, underscoring its potential as a valuable diagnostic tool in clinical practice.