Chronic kidney disease on the background of bardet biedl syndrome: a case report and review of literature

Abstract

Introduction: Bardet–Biedl syndrome (BBS) is a rare autosomal recessive multisystem disorder characterized by retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties and hypogonadism. In this case report, we present the clinical course and management of a patient with Bardet-Biedl Syndrome who developed chronic kidney disease (CKD). Case Presentation: An 18-year-old male presented to the emergency department with chief complaints of fever, cough, vomiting, and decreased urine output for 7 days. Parents complained that the child had a delay in development compared to other children of the same age group. On examination, the patient had bradycardia, periorbital and pedal edema, expiratory wheeze with bilateral basal crackles, polydactyly, central obesity, microtestes and delayed developmental milestones. Ultrasonography revealed bilateral small kidneys with increased cortical echotexture and loss of corticomedullary differentiation. Based on clinical features, the patient was diagnosed with chronic kidney disease in the background of Bardet Biedl syndrome. Hemodialysis was initiated after the diagnosis. Discussion: The management of CKD in the background of Bardet-Biedl syndrome poses unique challenges due to the complex multisystem involvement of this genetic disorder. There should be early reorganization and management of this condition so that the patient can have a better quality of life. Moreover, in developing countries like Nepal, genetic testing and diagnosis should be made easily accessible for better patient outcome. Conclusion: Multidisciplinary approach involving nephrologists, ophthalmologists, endocrinologists, and geneticists is important to optimize the treatment and long-term management of Badet Biedel patients.