Related Experiment Video
Updated: Apr 26, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Report of four cases of Bardet-Biedl syndrome
Paulo Roberto Santos1, Diego Levi Silveira Monteiro1, Paulo Henrique Alexandre de Paula1
1federal university of ceará.
Abstract:
Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center. Three cases were diagnosed in end-stage renal disease patients when they started maintenance hemodialysis, and one case was diagnosed through screening among hemodialysis patients' relatives. Although pediatricians have more opportunity to diagnose the syndrome, nephrologists are important during the treatment, since renal failure is the main cause of death among Bardet-Biedl syndrome patients. Moreover, late diagnosis of the syndrome among patients with end-stage renal disease can help to detect new cases through the screening among hemodialysis patients' relatives.
More Related Videos
Related Concept Videos
Pedigree Analysis
Genetic Lingo
Huntington Disease l: Introduction
Inborn Errors of Metabolism
ATP Synthase: Structure
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...

