Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literatureReportar como inadecuado




Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Cases Journal

, 2:6771

First Online: 07 July 2009Received: 21 March 2009Accepted: 25 May 2009DOI: 10.4076-1757-1626-2-6771

Cite this article as: Middela, S., Polizois, K., Bradley, A.J. et al. Cases Journal 2009 2: 6771. doi:10.4076-1757-1626-2-6771

Abstract

Bardet-Biedl syndrome is an autosomal recessive disorder with obesity, polydactly, retinitis pigmentosa, hypogenitalism, intellectual impairment and varying degree of renal abnormalities. Fewer than ten cases of paediatric renal transplantation for BBS have been reported in literature so far. This is the only case report of BBS transplant urolithiasis which was dealt with percutaneous nephrolithotomy and has been stone free for seven years. This is a complex case with a rare genetic disorder, renal transplant, renal stone, ileal conduit, long loop and inversely placed kidney. This case exemplifies the need for multidisciplinary management of complex cases and emphasises PCNL as the safe method.

AbbreviationsBBSBardet-Biedl syndrome

CPAPContinuous positive airway pressure

CTComputed tomography

ESRDend stage renal disease

PCNLPercutaneous nephrolithotomy

SWLShockwave lithotripsy

TKTransplant kidney

USRFlexible ureteroscopy.

Download fulltext PDF



Autor: Seshikanth Middela - Konstantinos Polizois - Alison J Bradley - Poduri N Rao

Fuente: https://link.springer.com/







Documentos relacionados