Bardet-Biedl syndrome, diagnostic controversies from a nephrological perspective. Presentation of a patient

Authors

Keywords:

Bardet-Biedl Syndrome, diagnosis differential

Abstract

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.

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Author Biographies

Rafael Enrique Cruz Abascal, Hospital Provincial Clínico Quirúrgico Universitario “Arnaldo Milián Castro”

Especialista en I y II Grado en Nefrología. Máster en Enfermedades Infecciosas. Profesor Auxiliar, Investigador Agregado, Universidad de Ciencias Médicas de Villa Clara.

Yuniel González Cárdenas, Hospital Provincial Clínico Quirúrgico Universitario “Arnaldo Milián Castro”

Especialista en I Grado en Medicina General Integral. Especialista en I Grado en Nefrología. Profesor Asistente en la Universidad de Ciencias Médicas de Villa Clara.

Gelsy Castillo Bermúdez, Hospital Provincial Clínico Quirúrgico Universitario “Arnaldo Milián Castro”

Especialista en I Grado en Medicina General Integral. Especialista en I Grado en Oftalmología. Profesora Asistente en la Universidad de Ciencias Médicas de Villa Clara.

References

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Published

2021-10-28

How to Cite

1.
Cruz Abascal RE, González Cárdenas Y, Castillo Bermúdez G. Bardet-Biedl syndrome, diagnostic controversies from a nephrological perspective. Presentation of a patient. Acta Méd Centro [Internet]. 2021 Oct. 28 [cited 2025 Jun. 27];15(4):618-23. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/1382

Issue

Vol. 15 No. 4 (2021): October-December

Section

Case Reports

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