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, the authors present the clinical course and management of a patient with BBS 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 tachypnea, 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 CKD in the background of BBS. Hemodialysis was initiated after the diagnosis. Discussion: The management of CKD in the background of BBS 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.
ABSTRACT
Transplantation is a lifesaving modality for addressing various organ failures. While kidney transplant services became available in Nepal in 2008, the introduction of liver transplantation is more recent. The government provides financial assistance to support lifelong dialysis and kidney transplantation. The importance of equitable access to transplantation cannot be overemphasized. This study aims to examine the equity in accessing transplantation services. This retrospective observational study encompasses patients who underwent kidney transplantation up until December 2022 across five major hospitals. Through standardized data collection and analysis, we evaluated the distribution of recipients based on gender, caste/ethnicity, and geographic location. A total of 2040 kidney transplantations were performed during the period. Notably, 79% of the recipients were men and, interestingly, 70% of the donors were women. Geographically, the highest proportion (31.8%) of recipients were from Bagmati, while the lowest (l2.8%) were from Karnali. Regarding caste and ethnicity, Janajatis accounted for 31% and Chhetris for 22.9%; Madhesis were lowest at 8.12%. Only 17 liver transplantations were conducted during the same period. Although access to kidney transplantation exists in Nepal, this study highlights persistent disparities. Women, rural and remote populations, as well as specific ethnic and caste groups encounter barriers to accessing transplantation services.
