Disseminated gonococcal infection in a Japanese man with complement 7 deficiency with compound heterozygous variants
| Autor: | Norimitsu Inoue, Hiromi Rakugi, Yasuo Fukumori, Nanoka Yoneda, Misaki Kageyama, Nobutaka Wakamiya, Futoshi Nakagami, Ken Sugimoto, Hideharu Hagiya, Katsuki Ohtani, Motonori Nagasawa, Keigo Kimura, Isao Nishi, Yasutaka Ueda |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Cefotaxime
complement deficiency medicine.drug_class Antibiotics disseminated gonococcal infection Physical examination complement addition test Compound heterozygosity medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Medicine Blood culture sexually transmitted infection 030212 general & internal medicine genome analysis medicine.diagnostic_test business.industry Sequela General Medicine Complement deficiency medicine.disease Neisseria gonorrhoeae 030220 oncology & carcinogenesis Immunology business medicine.drug |
| Zdroj: | Medicine. 100:e25265 |
| ISSN: | 1536-5964 0025-7974 |
| Popis: | Rationale: Complement deficiency are known to be predisposed to disseminated gonococcal infection (DGI). We herein present a case of DGI involving a Japanese man who latently had a complement 7 deficiency with compound heterozygous variants. Patient concerns: A previously healthy 51-year-old Japanese man complained of sudden-onset high fever. Physical examination revealed various skin lesions including red papules on his trunk and extremities, an impetigo-like pustule on left forearm, and tendinitis of his right forefinger. Diagnosis: Blood culture testing detected gram-negative cocci, which was confirmed to be Neisseria gonorrhoeae based on mass spectrometry and a pathogen-specific PCR test. Interventions: Screening tests for underlying immunocompromised factors uncovered that complement activities (CH50) was undetectable. With a suspicion of a congenital complement deficiency, genetic analysis revealed rare single nucleotide variants in complement 7 (C7), including c.281-1G>T and a novel variant c.1454C>T (p.A485V). CH50 was normally recovered by adding purified human C7 to the patient's serum, supporting that the patient has C7 deficiency with compound heterozygous variants. Outcomes: Under a diagnosis of DGI, the patient underwent an antibiotic treatment with cefotaxime for a week and was discharged without any sequela. Lessons: DGI is a rare sexually-transmitted infection that potentially induces systemic complications. Complement immunity usually defeats N. gonorrhoeae and prevents the organism from causing DGI. This case highlighted the importance of suspecting a complement deficiency when a person develops DGI. |
| Databáze: | OpenAIRE |
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