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

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.

Introduction

Kartagener syndrome is a genetic disorder characterized by a triad of symptoms: situs inversus, chronic sinusitis, and bronchiectasis^[1]. It is primarily caused by defects in the ciliary structure, leading to impaired mucociliary clearance^[2]. Its prevalence is about 1: 20 000–30 000 live births in general population^[1].

On the other hand, systemic lupus erythematous (SLE), is a chronic autoimmune disorder affects body’s immune system, which normally functions to protect against foreign invaders, forming antibodies that attack normal tissues and organs, including the skin, joints, kidneys, brain, heart, lungs, and blood^[3].

HIGHLIGHTS

• Kartagener syndrome and SLE can coexist, even though no clear medical link exists between them.

• Thorough clinical evaluation is essential in patients with multiple chronic conditions to avoid misdiagnosis or oversight of systemic complications.

• Understanding rare disease combinations may improve diagnostic accuracy and inform future research into potential mechanistic overlaps.

While there is no well-established direct association between Kartagener syndrome and SLE, both conditions can coexist in a patient independently or that may suggest a common underlying mechanism between these two disorders.

The prevalence of co-occurrence is not well-documented in the literature, in this case report, we presents a case of an 49-year-old male with SLE, Kartagener syndrome, and chronic kidney disease (CKD). Our case is the first in the literature indicating the accidental coexistence of SLE and Kartagener syndrome.

Case presentation

A 49-year-old male presented to the emergency department with a 1-month history of significant weight loss, totaling 10 kilograms, accompanied by symptoms of fatigue, diarrhea lasting 3 days, nausea, vomiting, and dyspnea classified as grade four (depending on modified British scale). The patient also reported experiencing fever, which was partially alleviated with paracetamol.

His social history is notable for a smoking history of 40 pack-years, while he denies any alcohol consumption, and his medical history is significant for complete visceral inversion discovered since age 20 by auscultation and chest X-ray (CXR), bronchiectasis secondary to Kartagener syndrome, SLE diagnosed at the age of 25 clinically and by laboratory values; (malar rash, photosensitivity, Raynaud phenomenon, oral ulcers, and renal disease. Antinuclear antibody (ANA) titer was 1:320. Chronic kidney disease attributed to the underlying SLE for the past 2 years. Additionally, he has a history of mitral valve prolapse. His surgical history includes total hip joint replacement and varicocele repair.

The physical examination revealed a conscious and oriented male patient in stable general condition. There was no abnormal findings except productive cough yielding green sputum, grade four dyspnea (modified British medical council scale), and bilateral wheezing, predominantly on the left side. Other systems symptoms include diarrhea, right arm paresthesia, and pain in the palms of the feet. Vital signs included an oxygen saturation of 99%, a pulse rate of 93 beats per minute, a temperature of 37.5 °C, and a blood pressure of 110/70 mm Hg.

Laboratory values were WBCs: 19.9, HGB: 7.1, MCV: 77.9, PLT: 182, Crea: 5.76, Urea: 242, Ca⁺²: 6.1, Mg: 1.9, Na⁺: 115, K +: 3.2. Urine examination shows: pH = 5, RBCS = 12–15, WBCS = 6–8. Chest X-ray showed bilateral infiltrations, pulmonary vascular congestion, and left side pleural effusion (Fig. 1). CT scan ensures the visceral inversion, and the CXR findings (Fig. 2).

Figure 1.

CT scan for chest shows the situs inversion, including dextrocardia and aortic arch inversion (Fig. 1A) and some SLE pulmonary manifestations, e.g., Pleural effusion, and infiltrations (Fig. 1B). Abdominal CT slides detect inversion of intestinal loops (Fig. 1C).

Figure 2.

The CXR finding are related to typical manifestations of Kartagener syndrome, including dextrocardia, with the aortic arch curving to the right. There is an increased vascular markings in the lung field, suggestive of chronic respiratory inflammation. Pleural effusion is more clear in the left side.

Patient’s treatment plan depends on of intravenous fluid therapy with normal saline, each liter containing bicarbonate and sodium chloride for electrolyte replenishment. Additionally, he was administered intravenous ciprofloxacin, ceftriaxone, and ondansetron. Oral medications included mycophenolate mofetil (CellCept), antiuric, a vitamin B complex, folic acid, lansoprazole, prednisolone, vitamin D, and oral supplementation of calcium and potassium (Table 1).

Table 1.

Timeline of illness and clinical course of patient with systemic lupus erythematosus and Kartagener syndrome. The table summarizes patient’s history, investigations, hospital management, discharge, and follow-up

Time point	Clinical events/findings	Notes
Age 20	Complete visceral inversion identified	Dx by auscultation and CXR
Age 25	SLE diagnosed	Clinical features: malar rash, photosensitivity, Raynaud phenomenon, oral ulcers, renal disease; ANA 1:320
Past 2 years	CKD	Attributed to underlying SLE
~1 month pre-ED	Weight loss (10 kg), fatigue	Gradual onset
3-day pre-ED	Diarrhea, nausea, and vomiting	Persistent GI symptoms
2-hour pre-ED	Fever onset	Partially relieved with paracetamol
ED presentation (Day 0)	Dyspnea grade IV (mMRC), productive cough with green sputum, bilateral wheezing (L>R), R arm paresthesia, plantar pain	Vitals: SpO2 99%, HR 93 bpm, T 37.5°C, BP 110/70 mm Hg.
Day 0 labs/imaging	WBC 19.9, Hgb 7.1, MCV 77.9, Plt 182, Cr 5.76, Urea 242, Ca 6.1, Mg 1.9, Na 115, K 3.2; UA: pH 5, RBC 12–15, WBC 6–8	CXR: bilat infiltrates, vascular congestion, L pleural effusion; CT: Visceral inversion confirmed
Hospitalization (during 7 weeks)	IV NS + HCO3/NaCl; IV antibiotics, ondansetron; oral MMF, uric-lowering agent, Vitamin B complex, folate, lansoprazole, prednisolone, Vitamin D, Ca/K supp	Overall condition acceptable; no major pain/distress; concern during severe electrolyte imbalance
Discharge	After ~7 weeks	Vitals/labs stabilized
Post-discharge FU	Consulted nephrologist; advised possible AVF if dialysis required	Recurrent electrolyte disturbances.
6 months FU (telephone)	No dialysis required, good overall condition	Clinical stability maintained

ANA, antinuclear antibody; AVF, arteriovenous fistula; BP, blood pressure; CKD, chronic kidney disease; Cr, creatinine; CXR, chest X-ray; Dx, diagnosis; ED, emergency department; EtOH, alcohol; FU, follow-up; GI, gastrointestinal; h, hours; HCO₃, bicarbonate; Hgb, hemoglobin; HR, heart rate; IV, intravenous; L, left; MCV, mean corpuscular volume; MMF, mycophenolate mofetil; mMRC, modified Medical Research Council (dyspnea scale); MVP, mitral valve prolapse; NS, normal saline; Plt, platelets; PY, pack-years; R, right; RBC, red blood cells; SLE, systemic lupus erythematosus; SpO₂, oxygen saturation; supp, supplementation; T, temperature; THR, total hip replacement; UA, urinalysis; Vit, vitamin; WBC, white blood cells; WL, weight loss.

Discussion

The disorders of ciliary motility can be primary or secondary. About half of cases of PCD -that causes bronchiectasis- are associated with situs inversus and chronic sinusitis and form a group called Kartagener’s syndrome. PCD is a genetic disorder of the structure and function of motile cilia. Kartagener’s syndrome is usually diagnosed by the sinus inversus and on the other hand, PCD stays undiagnosed in most cases^[2].

SLE is an autoimmune multisystemic disease with Various clinical signs and symptoms. These signs and symptoms can change over time making it hard to diagnose^[4].

Studies suggest that 20–90% of SLE patients will have respiratory manifestations, which can affect any part of the respiratory system such as the parenchyma (like acute pneumonitis and interstitial lung disease), pleura (pleurisy and pleural effusion), pulmonary vasculature, meanwhile shrinking lung syndrome is an unusual complication of the disease^[5].

In our case, we present an unusual accompaniment of Kartagener’s syndrome and SLE in a 49-year-old married Caucasian male. This association has not been previously mentioned in the medical literature. Regarding possible similar cases, there is a reported case for a 52-year-old married female in which Kartagener’s syndrome is associated with mixed connective tissue disease (MCTD)^[6]. MCTD is a rare systemic autoimmune disease with the main features of at least two overlapping connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, polymyositis, dermatomyositis, and rheumatoid arthritis^[7].

Our patient has no clinical or laboratory findings of any of those diseases except the diagnosed SLE, making it a unique case; both patients had pneumonia, a productive cough, and positive anti-nuclear autoantibody. On the other hand, the female patient serological tests were positive for anti-U1 ribonucleoprotein autoantibody and anti-Smith autoantibody.

SLE can cause glomerulonephritis in which glomerular immune complexes were believed to be the primary mediators of renal disease leading to renal failure^[8]. Our patient had chronic kidney failure believed to be caused by SLE but no biopsy had been performed.

In addition, there is a mention of an association between Kartagener’s syndrome and focal segmental glomerulosclerosis (FSG) in a case reported in Iran^[9]. in a rare case, SLE can cause pathological changes that mimics minimal change disease or primary focal segmental glomerulosclerosis and represents approximately 1% of kidney biopsies in a unique form of lupus Nephrites (LN) called lupus podocytopathy^[10].

In the Iranian case the patient was not diagnosed with SLE – despite of ANA positive test – and the disease had not progressed to CKD unlike our patient. Due to the similarity of treatment between FSG and SLE no biopsy has been made in our patient.

Ultimately, we believe that there may be a link between recurrent respiratory infections caused by Kartagener’s syndrome and the occurrence of some autoimmune diseases such as lupus and others, by an unknown mechanism.

Conclusion

This case report is the first record of coexisting of Kartagener syndrome and systemic lupus erythematosus (SLE) in a 49-year-old male patient. The combination of these two conditions that are previously unreported in the literature as well as the unusual nature of these conditions clearly points to the fact that one should consider complex genetic and autoimmune interactions when dealing with patients suffering from multisystemic disorders. While the pathophysiological link between Kartagener syndrome and SLE remains unclear, this case suggests the possibility of a shared underlying mechanism which requires further investigation. Overall, this case serves as a contribution of great significance to the medical community and also points out the fact that there is a need for further research on the possible associations between.

Ethical approval

Written informed consent for publication was obtained from the patient. This case report abides by the CARE guidelines and complies with ethical standards for publishing.

Consent

Written informed consent was obtained from the patient for publication. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Conflicts of interest disclosure

The authors declare that they have no competing interests.

Sources of funding

The authors received no specific funding for this work.

Author contributions

M.W. and K.E.: writing – manuscript, review – literature. All authors critically and linguistically revised the manuscript. Y.M.: supervision of the conduct of the study. All authors read and approved the final manuscript.

Research registration unique identifying number (UIN)

Not applicable.

Guarantor

Yousser Mohammad.

Provenance and peer review

This case report was not commissioned; it was submitted independently by the authors. The manuscript was externally peer reviewed.

Data availability statement

Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.