Ho Ngoc Huong Helen, Patel Siddharth, Pathak Prutha
Internal Medicine, Alabama College of Osteopathic Medicine, Dothan, USA.
Internal Medicine, Decatur Morgan Hospital, Decatur, USA.
Cureus. 2023 Jun 11;15(6):e40266. doi: 10.7759/cureus.40266. eCollection 2023 Jun.
Chronic granulomatous disease (CGD) is a rare X-linked or autosomal recessive disorder of early childhood due to defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme in leukocytes. It increases susceptibility to infections by catalase-positive bacteria and fungi. We report a case of an 18-year-old man with CGD who presented to the hospital with septic shock due to bacteremia, pneumonia, and osteomyelitis due to multiple rare microorganisms. Despite aggressive management, he did not survive. Increasing awareness about the common infections in this rare disease, their prevention, and lifelong treatment is warranted.
慢性肉芽肿病（CGD）是一种罕见的X连锁或常染色体隐性遗传性幼儿疾病，病因是白细胞中的烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶存在缺陷。它会增加机体对过氧化氢酶阳性细菌和真菌感染的易感性。我们报告一例18岁患有CGD的男性患者，因多种罕见微生物导致菌血症、肺炎和骨髓炎，进而引发感染性休克入院。尽管进行了积极治疗，他仍不幸离世。因此，有必要提高对这种罕见疾病常见感染、预防措施及终身治疗的认识。
