Síndrome de Bardet Biedl: rara causa de enfermedad renal terminal
Bardet Biedl syndrome (SBB) is a rare genetic disorder; its prevalence in North America and Europe is estimated at 1: 140,000 to 1: 160,000 newborns. It is included in the group of ciliopathies as it results from at least 16 different gene mutations suspected of playing a fundamental role in the cil...
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| Další autoři: | , , , |
| Médium: | article |
| Jazyk: | spa |
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2016
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| On-line přístup: | https://revistadigital.uce.edu.ec/index.php/CIENCIAS_MEDICAS/article/view/2853 |
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Přidat tag | Shrnutí: | Bardet Biedl syndrome (SBB) is a rare genetic disorder; its prevalence in North America and Europe is estimated at 1: 140,000 to 1: 160,000 newborns. It is included in the group of ciliopathies as it results from at least 16 different gene mutations suspected of playing a fundamental role in the cilia involved in cell movement and perception of sensory stimuli. It is characterized by retinitis pigmentosa, polydactyly, central obesity, and kidney damage, with kidney failure being the leading cause of death. It shows a Bardet Biedl Syndrome case with chronic kidney disease that affects a 21-year-old male patient treated at the Nephrology Department of the Eugenio Espejo Hospital. The patient required renal replacement therapy (hemodialysis). It notes that kidney malformations are common in this genetic disorder; however, it occasionally reports chronic kidney disease as a characteristic of the syndrome. |
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