PRIMARY COENZYME Q10 DEFICIENCY PRESENTS WITH NEPHROTIC SYNDROME IN ADULTHOOD DURING PREGNANCY: A CASE REPORT
COBI FREDRIC1, HUSSAIN ALLAWATI2, BRYONY RYDER3,4, DIANE KENWRIGHT5,6, GUNASHREE NAGARAJU1
1Te Whatu Ora – Capital, Coast and Hutt Valley, Wellington, Aotearoa / New Zealand, 2Te Whatu Ora – Te Matau a Maui Hawke’s Bay, Hastings, Aotearoa / New Zealand, 3Te Whatu Ora – Te Toka Tumai Auckland, Auckland, Aotearoa / New Zealand, 4Adult and Paediatric National Metabolic Service, Auckland, Aotearoa / New Zealand, 5University of Otago, Wellington, Aotearoa / New Zealand, 6Awanui Laboratories, Wellington, Aotearoa / New Zealand
Background: Primary coenzyme Q10 (CoQ10) deficiency is a heterogeneous group of disorders caused by biallelic pathogenic variants in one of various genes involved in the biosynthesis of CoQ10. It typically presents in the first decade of life. Clinical phenotypes range from isolated steroid-resistant nephrotic syndrome (SRNS) to fatal multisystem disease. CoQ10 supplementation (ubiquinone) has been shown to improve renal and neurological features in some patients, particularly if instituted early.
Case Report: A 36-year old Filipino woman presented with SRNS during pregnancy. Her childhood medical history was unremarkable. Her adult medical history was significant for sudden painless visual loss age 30, with optic atrophy and retinopathy, and mild sensorineural hearing loss. Renal biopsy showed focal segmental glomerulosclerosis, with small but non-dysmorphic mitochondria. Despite multiple immunosuppressants, she progressed to end-stage renal failure. Whole exome sequencing revealed compound heterozygous likely pathogenic variants in COQ2 – c.973A>G, p.(Thr325Ala), and a novel variant c.1069del, p.(Leu357Trpfs*4), confirming a diagnosis of primary CoQ10 deficiency. Treatment with ubiquinone did not improve her renal disease, visual or hearing impairment. She proceeded to live donor renal transplantation, and one year post-transplant is doing well with no recurrence of disease. She continues on ubiquinone and has not had any new or progressive extra-renal manifestations of CoQ10 deficiency.
Conclusions: We report the first ever case of SNRS due to primary CoQ10 deficiency in the fourth decade of life. This case illustrates that primary CoQ10 deficiency can present with nephrotic syndrome much later in life than has been previously demonstrated. Genetic testing should be considered for patients in whom a diagnosis has not been established, regardless of age, as this may guide treatment and surveillance.
Biography:
Cobi Fredric is an advanced trainee in nephrology and general medicine working at Te Whatu Ora Capital, Coast and Hutt Valley in Wellington, New Zealand. She has an interest in general nephrology and in preventative medicine, and sees research as a tool not only to help those with established kidney disease but also enable early diagnosis and screening in patients with early disease or in the pre-disease state.