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Abstract: SA-PO527

Challenges in Diagnosis of Mitochondrial Mutations in Patients With Diabetes and Kidney Disease: A Case Report

Session Information

  • Genetic Diseases: Diagnosis
    November 05, 2022 | Location: Exhibit Hall, Orange County Convention Center‚ West Building
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidneys

  • 1102 Genetic Diseases of the Kidneys: Non-Cystic


  • Sahi, Sukhdeep Singh, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Gilani, Sarwat, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Buglioni, Alessia, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Hogan, Marie C., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Bu, Lihong, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Kukla, Aleksandra, Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Kudva, Yogish C., Mayo Clinic Minnesota, Rochester, Minnesota, United States

Determining etiology of diabetes may be challenging due to high genetic and phenotypic heterogeneity. Mitochondrial diseases, including “MELAS” (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) have been associated with maternally inherited diabetes, as well as deafness and kidney disease. We report a case of women diagnosed with mitochondrial disease later in life who initially presented with diabetes.

Case Description

A 46 yo woman developed gestational type 2 diabetes at age 30. Family history was positive for maternal diabetes. She was treated with insulin due to her poor tolerance to other anti-diabetic agents. Creatinine had gradually increased from 0.8 mg to 1.3 mg. She reported hearing loss 2 years prior to her diagnosis of mitochondrial disease. Lactate was checked due to the combination of diabetes and deafness and suspicion of mitochondrial etiology. Lactate was abnormal 3.7 mmol/ml (n 0.5-2.2 mmol/ml). There were no other clinical symptoms. Mitochondrial Full Genome Analysis by Next Generation Sequencing (NGS) identified m.3243A>G in MT-TL1 with a heteroplasmy level of 12%. Kidney biopsy showed diffuse mesangial expansion, focal segmental glomerulosclerosis with moderate foot process effacement, and mitochondriopathy with abnormal mitochondria of variable sizes and shapes (Fig), consistent with the dual diagnosis of mitochondrial and diabetic kidney disease. Heteroplasmy was evident in 75% of kidney cells.


Our case highlights the challenges inherent in diagnosing mitochondrial diseases as the presenting symptoms may vary. Providers should consider mitochondrial etiology when, in addition to diabetes, other systemic symptoms are present. A multidisciplinary approach is necessary to establish diagnosis.

Figure legend: Native kidney biopsy electron microscopy findings of MT-TL1 associated mitochondriopathy, showing dysmorphic mitochondria in proximal tubular epithelial cells. Original magnification (a) x2500 and (b) x6000.