Case report: the unusual association of Kartagener's syndrome and systemic lupus erythematosus

病例报告:卡塔格纳综合征与系统性红斑狼疮的罕见关联

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Abstract

INTRODUCTION AND IMPORTANCE: Kartagener syndrome, or primary ciliary dyskinesia (PCD), is a rare inherited disorder marked by situs inversus, bronchiectasis, and chronic sinusitis due to impaired motile cilia. Systemic lupus erythematosus (SLE) is an autoimmune condition characterized by multisystem inflammation, most commonly affecting skin, joints, kidneys, and other systems. To date, the association between PCD and SLE has not been described. Recognizing this overlap in understanding the interaction between the genetic and autoimmune pathways, ultimately informing tailored diagnostic and therapeutic strategies. CASE PRESENTATION: A 49-year-old male with a history of Kartagener syndrome, SLE, and visceral inversion presented with multi-system complaints: significant weight loss, fatigue, grade IV dyspnea, diarrhea, vomiting, and fever. Clinical evaluation revealed bilateral pulmonary infiltrates, pleural effusion, and severe renal dysfunction. Laboratory findings showed anemia, electrolyte imbalances, and elevated inflammatory markers. Treatment included IV fluids with electrolyte correction, broad-spectrum antibiotics, and immunosuppressive agents, alongside oral supplements. CLINICAL DISCUSSION: This case spotlights the delicate balance between infection control in PCD and immunosuppression for SLE. Chronic mucociliary clearance defects may perpetuate antigenic stimulation, potentially exacerbating autoimmunity, whereas aggressive immunomodulation can heighten infection risk. No mechanistic link has been established, but our experience underscores the need for integrated multidisciplinary care. Future studies should explore immune profiling in PCD to identify predisposition toward autoimmune disorders. CONCLUSION: This first-reported concurrence of Kartagener syndrome and SLE emphasizes the importance of holistic evaluation in patients with complex genetic and autoimmune conditions. Awareness of potential cross-talk between ciliary dysfunction and systemic autoimmunity may enhance diagnostic precision and guide individualized management.

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