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CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology
Miriam Zacchia1, Floriana Secondulfo1, Andrea Melluso1
1Department of Medical Translational Sciences, University of Campania "Luigi Vanvitelli," Naples, Italy.
Kidney International Reports
|February 24, 2025
Summary
Bardet-Biedl syndrome (BBS) patients are vulnerable to chronic kidney disease (CKD). Age, hypertension, and obesity are linked to declining kidney function, highlighting the need for early interventions in BBS care.
Area of Science:
- Nephrology
- Genetics
- Rare Diseases
Background:
- Bardet-Biedl syndrome (BBS) is a rare genetic disorder with chronic kidney disease (CKD) as a significant prognostic factor.
- Early identification and management of kidney dysfunction in BBS are crucial for patient outcomes.
Purpose of the Study:
- To analyze kidney function in BBS patients.
- To explore the impact of genetic variants and common risk factors on kidney disease in BBS.
Main Methods:
- A monocentric cross-sectional study involving 65 BBS patients.
- Genetic analysis using next-generation sequencing.
- Assessment of renal function, correlated with age, obesity, hypertension, and genetic mutations.
Main Results:
- 25% of patients had an estimated glomerular filtration rate (eGFR) < 60 ml/min/1.73 m².
- Reduced eGFR correlated with patient age, truncating mutations in BBS genes, and hypertension.
- Body mass index (BMI) was independently associated with eGFR decline, alongside age.
Conclusions:
- BBS patients exhibit vulnerability to kidney disease development.
- Age, hypertension, and obesity are associated with reduced eGFR in adult BBS patients.
- Further research is needed to determine if interventions for modifiable factors can reduce CKD risk.
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