CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.

• Tác giả: Giovambattista Capasso, Giovanna Capolongo, Francesca Del Vecchio Blanco, Valentina Di Iorio, Andrea Melluso, Vincenzo Nigro, Alessandra Perna, Giulio Piluso, Floriana Secondulfo, Francesca Simonelli, Anna Laura Torella, Francesco Trepiccione, Miriam Zacchia
• Ngôn ngữ: eng
• Ký hiệu phân loại: 011.372 *Motion pictures
• Thông tin xuất bản: United States : Kidney international reports , 2025
• Bộ sưu tập: NCBI
• ID: 673997

Tóm tắt

 INTRODUCTION: Chronic kidney disease (CKD) is a critical prognostic factor in Bardet-Biedl syndrome (BBS). Early diagnosis and intervention are essential for improving patient outcomes. The present study analyzed kidney function in patients with BBS, with the aim to explore the impact of genetic variants and common risk factors for kidney disease. METHODS: A monocentric cross-sectional study was conducted. Patients underwent genetic analysis via next generation sequencing
  renal function was assessed and the relationship with the following: (i) age, obesity, hypertension and (ii) genetic mutations was analyzed. RESULTS: A total of 65 patients with BBS were enrolled in the study
  renal function was variable, with 25% of patients showing an estimated glomerular filtration rate (eGFR) <
  60 ml/min per 1.73 m CONCLUSION: The present study suggests that BBS is a condition of vulnerability to develop kidney disease, and that age, hypertension and obesity are associated with eGFR decline in adult patients with BBS. Whether effective interventions to treat modifiable factors will reduce CKD risk requires further studies.