Focal and Segmental Glomerulosclerosis in a Patient with a Paternal Family History of Nephropathy of Unknown Cause

Focal Segmental Glomerulosclerosis (FSGS) is a disease of unknown cause that can sometimes have a familial presentation. In these cases, a hereditary mechanism has been suggested involved in the etiopathogenesis, caused by a series of genetic mutations in genes that encode proteins expressed mainly in the podocytes and their slit diaphragm and also in other components of the glomerular filtration barrier such as the membrane. One of the causes of this disease is Schimke Immune Osseous Dysplasia (SIOD) is an ultra-rare multisystemic, monogenic and autosomal recessive inherited disease caused by biallelic mutations in the SMARCAL1 gene. Approximately 100 cases have been reported worldwide. The disease is characterized by skeletal, renal and immunological abnormalities.

Author(s): Rosales Montero Alejandro J

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