title: Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation.
abstract: Bardet-Biedl syndrome (BBS) is a multisystem autosomal recessive disorder with clinical and genetic heterogeneity. It is a type of ciliopathy characterized by retinal dystrophy, central obesity, polydactyly, cognitive impairment, and gonadal and renal dysgenesis. It has been suggested that the involved proteins attach to the basal body of ciliated cells making this a disorder of ciliary dysfunction. We report two cases of typical BBS in a 17-year-old female and 29-year-old male patient, who presented for live-related renal transplant. We discuss the relevant points of the syndrome regarding anesthetic management.
authors.affiliation: Department of Anesthesia and Critical Care, Institute of Kidney Disease and Research Center, Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.
authors.forename: Kalpana S
authors.initials: KS
authors.lastname: Vora
authors.affiliation: Department of Anesthesia and Critical Care, Institute of Kidney Disease and Research Center, Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.
authors.forename: Manisha P
authors.initials: MP
authors.lastname: Modi
authors.affiliation: Department of Anesthesia and Critical Care, Institute of Kidney Disease and Research Center, Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.
authors.forename: Bina P
authors.initials: BP
authors.lastname: Butala
authors.affiliation: Department of Anesthesia and Critical Care, Institute of Kidney Disease and Research Center, Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.
authors.forename: Veena R
authors.initials: VR
authors.lastname: Shah
mesh_terms: D000293:Adolescent; D000328:Adult; D000768:Anesthesia, General / Q000009:adverse effects / Q000379:methods*; D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000175:diagnosis; D000066491:Clinical Decision-Making; D018450:Disease Progression; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000601:surgery*; D016030:Kidney Transplantation; D008297:Male; D012307:Risk Factors; D016896:Treatment Outcome