Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Area of Science:

• Pediatric Nephrology
• Genetics
• Rare Diseases

Background:

• Bardet-Biedl syndrome is a genetic disorder linked to childhood chronic kidney disease.
• Kidney abnormalities contribute significantly to morbidity and mortality in Bardet-Biedl syndrome.
• Early-onset end-stage renal disease and peritoneal dialysis are underreported in Bardet-Biedl syndrome literature.

Purpose of the Study:

• To highlight the importance of early renal monitoring in Bardet-Biedl syndrome.
• To present a case of early-onset end-stage renal disease managed with peritoneal dialysis.

Main Methods:

• Case report of a four-year-old boy diagnosed with Bardet-Biedl syndrome.
• Clinical evaluation including diagnosis of hypertension, severe anemia, and end-stage renal disease.
• Initiation of continuous ambulatory peritoneal dialysis.

Main Results:

• The patient met diagnostic criteria for Bardet-Biedl syndrome.
• The patient required continuous ambulatory peritoneal dialysis for end-stage renal disease.
• The case underscores the potential for early and severe renal complications.

Conclusions:

• Early and close renal monitoring is essential for Bardet-Biedl syndrome patients.
• Prompt initiation of renal replacement therapy, such as peritoneal dialysis, is recommended.
• This approach aims to prevent or mitigate end-stage renal disease progression.