İpek Işık GÖNÜL, Didem TURGUT, Ezgi YENİGÜN ÇOŞKUN, Eyüp KOÇ, Fatih DEDE, Hadim AKOĞLU, Serhan PİŞKİNPAŞA

Kronik böbrek yetmezliği ile başvuran Bardet Biedl sendromlu bir olgu

Bardet-Biedl Sendromu obezite, retinal distrofi, dismorfik ekstremiteler, mental retardasyon,endokrinolojik ve renal anormallikler ile karakterize, otozomal resesif geçişli nadir görülen birhastalıktır. Renal tutulum hastalığın major tanı kriterlerinden olup; kronik böbrek hastalığı busendromda görülen en sık ölüm nedenidir. Bu nedenle, renal hasarın erken teşhisi prognostiköneme sahiptir. Bu yazıda, nadir gözlenen Bardet-Biedl sendromuna eşlik eden kronik böbrekhastalığı ve konuyla ilgili literatür gözden geçirildi.

A patient with Bardet-Biedl syndrome presenting with chronic renal f ailure

Bardet-Biedl syndrome is a rare autosomal recessive disease characterized by obesity, retinaldystrophy, dysmorphic extremities, mental retardation, endocrine and renal abnormalities. Renalinvolvement is recognized as a cardinal feature. Chronic kidney disease is major cause of mortalityin Bardet-Biedl syndrome. In this report, we discussed a patient presenting with chronic kidneydisease and Bardet-Biedl syndrome due to its rarity in the aspect of the literature.

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