Case Study of Bardet-Biedl Syndrome with Fetal Lobulation and Focal Segmental Glomerulosclerosis
Küçük Resim Yok
Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Galenos Yayincilik
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Bardet-Biedl syndrome, childhood, focal segmental glomerulosclerosis, kidney
Kaynak
Turkish Journal of Endocrinology and Metabolism
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
12
Sayı
1
