Kidney Week

Abstract: PUB396

Focal Segmental Glomerulosclerosis Associated with Mitochondrial Disease

Session Information

• Publication Only

Category: Glomerular Diseases

• 1402 Glomerular Diseases: Clinical, Outcomes, and Therapeutics

Authors

• Segarra, Jessica Marilud, Universidad de la Republica Uruguay, Montevideo, Montevideo, Uruguay

Jessica Marilud Segarra, DrMed, MEd

• Yandian, Federico, Universidad de la Republica Uruguay, Montevideo, Montevideo, Uruguay

Federico Yandian, MD

• Facal, Lucia, Universidad de la Republica Uruguay, Montevideo, Montevideo, Uruguay

Lucia Facal, MD

• Boggia, Jose, Universidad de la Republica Uruguay, Montevideo, Montevideo, Uruguay

Jose Boggia, MD, MMSc, PhD

• Raggio, Víctor E., Universidad de la Republica Uruguay, Montevideo, Montevideo, Uruguay

Víctor E. Raggio, MD

• Spangenberg, Lucia, Universidad de la Republica Uruguay, Montevideo, Montevideo, Uruguay

Lucia Spangenberg, PhD

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