E HO1, R JUNEJA2, J BARBARA3, J LI4
1Flinders University , Bedford Park, Australia, 2Flinders Medical Centre, Bedford Park, Australia, 3Flinders Medical Centre, Bedford Park, Australia, 4Flinders Medical Centre, Bedford Park, Australia
Background: Maternal Inherited Deafness and Diabetes (MIDD) and Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS) are maternally inherited mitochondrial disorders that have the same m.3243A>G mutation with different phenotypes. Renal involvement is observed in patients with MIDD or MELAS. These patients can progress to end-stage kidney disease, requiring renal replacement therapy.
Case Report: A 54-year-old man presents with chronic kidney disease on a background of diabetes mellitus, sensorineural hearing loss, hypertension, hyperlipidaemia and cardiomyopathy. His mother had been diagnosed with MELAS syndrome. Genetic analysis showed positive for m.3243A>G mutation with a mutational loading of 13%; this is consistent with MIDD. He received a deceased donor kidney transplant in March 2017. He is now 1 year post-transplantation with stable allograft function (serum creatinine 101 µmol/L) and is well.
Conclusion: Patients with m.3243A>G mutation often exhibit a broad array of phenotypes with renal involvement being observed in both MIDD and MELAS. Their prognosis is variable. Kidney transplantation should be considered in these patients. Careful perioperative management including the use of Coenzyme Q10 can help to prevent potential complications. Kidney transplantation can improve a patient’s prognostic outlook.
I am currently a Year 3 medical student doing my advanced studies under Dr Jordan Li at the Flinders Medical Centre with an interest in studying the impact of renal transplantation on patients with mitochondrial diseases and observing their progress post-operation.