Alport Syndrome, Chronic Kidney Disease, CKD, Fabry Disease, Lupus or SLE, Periodontal Disease, Periodontitis, Systemic Lupus Erythematosus (SLE), Tuberous Sclerosis Complex (TSC)
Conditions
Keywords
Periodontal Disease, Periodontitis, CKD, Rare Kidney Diseases, Alport syndrome, Systemic Lupus Erythematosus, Tuberous Sclerosis Complex (TSC), Chronic Kidney Disease
Brief summary
This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus erythematosus (SLE), compared with chronic kidney disease (CKD) controls and population controls. This is a cross-sectional, case-control observational study. Participants will undergo a single structured evaluation including a full-mouth periodontal examination, a clinical questionnaire, and collection of relevant clinical and nephrological data. The primary objective is to compare the prevalence of periodontitis across study groups. Secondary objectives include characterization of periodontal disease severity, prevalence of gingivitis and xerostomia, and identification of disease-specific oral phenotypes. Exploratory analyses will assess associations between periodontal disease and clinical variables such as kidney function, proteinuria, and immunosuppressive exposure.
Detailed description
Periodontal disease is a chronic inflammatory condition associated with systemic inflammation and has been linked to chronic kidney disease (CKD) severity and outcomes. However, data regarding periodontal disease in rare kidney disorders remain limited. Rare renal diseases such as Alport syndrome, Fabry disease, and tuberous sclerosis complex, as well as systemic lupus erythematosus (SLE), may present unique biological and treatment-related factors influencing periodontal health. This study is a cross-sectional, controlled observational study designed to evaluate the prevalence and severity of periodontal disease in these populations. Participants will be recruited from Fundeni Clinical Institute Adult Nephrology Department and general population sources. Each participant will undergo a single study visit including a standardized full-mouth periodontal examination performed by a calibrated dentist, a structured questionnaire, and extraction of clinical data from medical records. The primary outcome is the prevalence of periodontitis, defined according to the 2018 classification of periodontal diseases. Secondary outcomes include measures of periodontal disease severity and associated oral conditions. Statistical analyses will include descriptive statistics, group comparisons, and multivariable regression models adjusted for relevant confounders.
Interventions
OTHERObservational assessment
Non-interventional observational assessment including periodontal examination and clinical data collection.
Sponsors
Stefan Lujinschi
Institutul Clinic Fundeni
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age ≥18 years * Ability to provide written informed consent * At least 10 natural teeth present * Belonging to one of the predefined study groups: 1. Alport syndrome (genetically or clinically confirmed) 2. Fabry disease (enzymatically or genetically confirmed) 3. Tuberous sclerosis complex (according to established clinical or genetic criteria) 4. Systemic lupus erythematosus defined according to the 2019 EULAR/ACR or SLICC 2012 classification criteria, with renal involvement defined by at least one of the following: \[1\] Biopsy-proven lupus nephritis, \[2\] Persistent proteinuria (\>0.5 g/day or equivalent), \[3\] Active urinary sediment (hematuria and/or cellular casts) consistent with lupus nephritis 5. Chronic kidney disease (CKD) of non-rare etiology: defined according to KDIGO criteria (eGFR \<60 ml/min/1.73 m² and/or markers of kidney damage) 6. Individuals without CKD, recruited from clinical or dental care settings as non-CKD controls
Exclusion criteria
* Periodontal treatment within the last 6 months * Antibiotic therapy within the last 4 weeks * Pregnancy * Conditions precluding periodontal examination * Inability to comply with study procedures
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of Periodontitis | At the single study visit (baseline) | Prevalence of periodontitis defined according to the 2018 classification of periodontal diseases. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Mean Probing Pocket Depth (PPD) | At the single study visit (baseline) | Mean probing pocket depth (in millimeters) measured across all examined sites during full-mouth periodontal examination. |
| Mean Clinical Attachment Level (CAL) | At the single study visit (baseline) | Mean clinical attachment level (in millimeters) measured across all examined sites during full-mouth periodontal examination. |
| Percentage of Sites with Probing Pocket Depth ≥6 mm | At the single study visit (baseline) | Percentage of periodontal sites with probing pocket depth of 6 mm or greater, reflecting severe periodontal involvement. |
| Percentage of Sites with Bleeding on Probing (BOP) | At the single study visit (baseline) | Percentage of periodontal sites exhibiting bleeding on probing during full-mouth periodontal examination, as a marker of gingival inflammation. |
| Prevalence of Gingivitis | At the single study visit (baseline) | Proportion of participants with clinical signs of gingival inflammation without attachment loss, consistent with gingivitis. |
| Prevalence of Xerostomia | At the single study visit (baseline) | Proportion of participants reporting subjective dry mouth symptoms or presenting clinical evidence of reduced salivary flow. |
| Presence of Disease-Specific Oral Findings | At the single study visit (baseline) | Presence of oral manifestations associated with underlying systemic disease, such as gingival fibromas, mucosal lesions, or enamel defects. |
Countries
Romania
Contacts
CONTACTStefan N Lujinschi, MD, PhD candidate
STUDY_CHAIRGener Ismail, Professor, MD, PhD
Fundeni Clinical Institute
PRINCIPAL_INVESTIGATORBahtiar Ismail, MD, PhD
Emergency University Hospital Bucharest
Outcome results
None listed