Focal Segmental Glomerulosclerosis Associated with Mitochondrial Disease

Introduction: Mitochondrial diseases include myopathy, neurological diseases, and multisystem diseases. The most frequent mutation is DNAt.3243 >G and is associated in 80% with mitochondrial encephalomyopathy syndrome, lactic acidosis and MELAS-like stroke episodes. Case Description: SF 32 years old, with short stature, HT, DM, hearing loss, dyslipidemia, hypertrophic cardiomyopathy and ESRD-HD, a renal biopsy was performed that describes a FSGS pattern and in the ME 100% pedicellar fusion. With the suggestion of mitochondrial disease, a genetic study is requested that reports the m.3243A>G mutation in the mitochondrial gene MT-TL1 related to MELAS. Exome sequencing detected 2 variants of uncertain significance in the Gene: MYH9. Later he had a similar stroke and maintains prophylaxis with arginine. Family history mother with DM and hearing loss Discussion: For MELAS there are clinical criteria available at https://www.ncbi.nlm.nih.gov/sites/books/NBK1233/ The case described presents seizures, acute focal lesions on neuroimaging, elevated plasma lactate and a pathogenic variant. The MYH9 gene mutation is related to macrothrombocytopenia and sensorineural deafness, no definitive functional mutation has been identified in this gene. A better clinicopathological approach is needed for an accurate differential diagnosis, allowing clinicians to perform a comprehensive evaluation of the pattern of FSGS injury for the development of appropriate treatments