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Acta Médica del Centro
versão On-line ISSN 2709-7927
Resumo
CRUZ ABASCAL, Rafael Enrique; GONZALEZ CARDENAS, Yuniel e CASTILLO BERMUDEZ, Gelsy. Bardet-Biedl syndrome, diagnostic controversies from a nephrological perspective. Presentation of a patient. Acta méd centro [online]. 2021, vol.15, n.4, pp. 618-623. Epub 31-Dez-2021. ISSN 2709-7927.
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.
Palavras-chave : Bardet-Biedl Syndrome; diagnosis differential.