Introduction:

Bardet-Biedl syndrome is a rare hereditary disease belonging to the ciliopathies with autosomal recessive transmission pattern and locus heterogeneity.

Patient information:

37-year-old male patient with white skin color, of rural social origin, who received a renal transplant from cadaveric donor. In his follow-up it was found that he suffered from retinitis pigmentosa, mental retardation and renal cystic disease; initially the etiology of the original nephropathy was interpreted as autosomal dominant polycystic kidney disease. On clinical examination, polydactyly was found in the right hand, which is a pathognomonic sign of this disease. His post-graft evolution has been excellent, with no significant morbidity.

Conclusions:

due to their heterogeneity, cystic kidney diseases do not always respond to the same denomination. When attending the first patient with Bardet-Biedl syndrome it becomes relevant to establish the differential diagnosis of polycystic kidney disease and the original nephropathy, which is relevant for follow-up and post-transplant management.

        · resumen en Español     · texto en Español     · Español ( pdf )