| Autor: |
Kalpana S Vora, Manisha P Modi, Bina P Butala, Veena R Shah |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Saudi Journal of Kidney Diseases and Transplantation, Vol 28, Iss 2, Pp 384-387 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
1319-2442 |
| DOI: |
10.4103/1319-2442.202775 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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