Periodontal Inflammation in Rare Renal Disorders - A Cross-Sectional Controlled Observational Study Assessing the Burden and Phenotypes of Periodontal Disease
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.
• Age ≥18 years
• Ability to provide written informed consent
• At least 10 natural teeth present
• Belonging to one of the predefined study groups:
‣ Alport syndrome (genetically or clinically confirmed)
⁃ Fabry disease (enzymatically or genetically confirmed)
⁃ Tuberous sclerosis complex (according to established clinical or genetic criteria)
⁃ 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
⁃ 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)
⁃ Individuals without CKD, recruited from clinical or dental care settings as non-CKD controls