Mitochondrial disease and preconception care — ASN Events
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Mitochondrial disease and preconception care (#14)

Jinwen He 1 , Liza Phillips 1 , Janelle Nisbet 1
  1. Endocrinology, Mater Hospital, Brisbane, Queensland, Australia

A 30 year old female started experiencing migraines, bowel symptoms and lethargy in 2014. She was of short stature (height 152cm) and low-normal BMI (weight 43kg BMI 18kg/m2). In 2018, she was noted to have an high random glucose of 10.6 mmol/L, and diabetes was confirmed with an oral glucose tolerance test (OGTT Baseline 10.6mmol/L;1hr 21.2mmol/L;2hr 24.7 mmol/L).

Her diabetes was well controlled on metformin alone, with HbA1c 5.8% (40mmol/mol) three months after medication commencement. Screening for type 1 diabetes antibodies and MODY was negative. J.E. developed sensorineural hearing loss one year following diagnosis of diabetes.

Given her multisystem involvement with diabetes, hearing loss, short stature, migraines and gut motility issues, she was referred for genetic testing. Genetic testing confirmed that there was a pathogenic mutation in mitochondrial DNA m.3243A>G, commonly seen in Maternally Inherited Diabetes and Deafness (MIDD) and Mitochondrial Encephalopathy with Lactic acidosis and Stroke-like episodes (MELAS). She was prescribed supplements including CoQ10, B1, B2 and arginine.

In 2020, metformin was ceased due to theoretical risk of lactic acidosis and gliclazide MR 30mg BD was introduced. Glycaemic control remained satisfactory with HbA1c 6.7% (50mmol/mol). She discussed with the treating team regarding planning for a pregnancy in 2021, and hence gliclazide was replaced with insulin. Despite regular menses, she has not successfully conceived after 6 months of actively trying for pregnancy.

In mid 2022, she was referred to the renal team for investigation of sub-nephrotic range proteinuria with preserved eGFR, first noted in Sept 2020 (urine ACR 260 in Sept 2020, and urine ACR 110, eGFR 82 in April 2022). Kidney biopsy confirmed focal segmental glomerulosclerosis and interstitial nephritis, with abnormal mitochondria seen on electron microscopy, diagnostic of mitochondrial nephropathy. 

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