Bardet-Biedl syndrome is a genetic autosomal recessive disease characterized by abdominal obesity, mental retardation, dysmorphic extremities, retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism, and kidney involvement. Patients with renal involvement may present with both structural and functional abnormalities. Here, we present a 15-year-old male with Bardet-Biedl syndrome who has both fetal lobulation, a rare type of structural abnormality, and focal segmental glomerulosclerosis, having not been reported before.
C1 [Tabel, Yilmaz] Inonu Univ, Pediat Nephrol, Malatya, Turkey.
[Akin, Like Mungan] Inonu Univ, Pediat, Malatya, Turkey.
[Karadag, Nese] Inonu Univ, Pathol, Malatya, Turkey.
[Akinci, Ayflehan] Inonu Univ, Pediat Pediat Endocrinol, Malatya, Turkey.