Cruz ARE, González CY, Castillo BG

Language: Spanish
References: 6
Page: 618-623
PDF size: 408.43 Kb.

ABSTRACT

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

REFERENCES

1. Ladino Y, Galvis J, Yasnó D, Ramírez A, Beltrán OI. Variante patogénica homocigótica del gen BBS10 en un paciente con síndrome de Bardet-Biedl. Biomédica [Internet]. 2018 [citado 21/11/2020];38:308-19. Disponible en: https://revistabiomedica.org/index.php/biomedica/article/download/4199/4082/. https://doi.org/10.7705/biomedica.v38i4.4199

2. Castro-Sánchez S, Álvarez-Satta M, Pereiro I, Piñeiro-Gallego MT, Valverde D. Algoritmo para el estudio molecular del síndrome de Bardet-Biedl en España. Med Clin [Internet]. 2015 [citado 21/11/2020];145(4):147–52. Disponible en: https://www.clinicalkey.es/#!/content/playContent/1-s2.0-S0025775314004643. https://doi.org/10.1016/j.medcli.2014.05.037

3. Zacchia M, Di Lorio V, Trepiccione F, Caterino M, Capasso G. The kidney in Bardet-Biedl syndrome: Possible pathogenesis of urine concentrating defect. Kidney Dis [Internet]. 2017 [citado 21/11/2020];3(2):57-65. Disponible en: https://www.karger.com/Article/Fulltext/475500. https://doi.org/10.1159/000475500

4. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature [Internet]. 2003 Oct [citado 21/11/2020];425(6958):628-33. Disponible en: https://www.nature.com/articles/nature02030. https://doi.org/10.1038/nature02030

5. Acosta-Ochoa MI, Ampuero-Anachuri K, Tavarez-Paniagua R, Plagaro-Cordero ME, Molina-Miguel A. Síndrome de Bardet-Biedl, modelo de ciliopatía e importancia del compromiso renal. Nefrología (Madr) [Internet]. 2013 [citado 21/11/2020];33(5):734-5. Disponible en: https://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0211-69952013000600015. https://dx.doi.org/10.3265/Nefrologia.pre2013.Jun.11190

6. Forsythe E, Kenny J, Bacchelli C, Beales PL. Managing Bardet–Biedl Syndrome—Now and in the future. Front Pediatr [Internet]. 2018 [citado 21/11/2020];6:23. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816783/. https://dx.doi.org/10.3389/fped.2018.00023