Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family

We report a family with a rare genetic disorder arising out of mutation in the gene that encodes for the enzyme lecithin-cholesterol acyltransferase (LCAT). The proband presented with nephrotic syndrome, hemolytic anemia, cloudy cornea, and dyslipidemia. Kidney biopsy showed certain characteristic f...

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Detalles Bibliográficos
Autores principales: Mahapatra, H. S., Ramanarayanan, S., Gupta, A., Bhardwaj, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663774/
https://www.ncbi.nlm.nih.gov/pubmed/26664212
http://dx.doi.org/10.4103/0971-4065.157802

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663774/
https://www.ncbi.nlm.nih.gov/pubmed/26664212
http://dx.doi.org/10.4103/0971-4065.157802

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