A CASE OF COQ10 NEPHROPATHY PRESENTING WITH MINIMAL CHANGE DISEASE ASSOCIATED WITH COQ8B GENE VARIANT

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Abstract Title *

A CASE OF COQ10 NEPHROPATHY PRESENTING WITH MINIMAL CHANGE DISEASE ASSOCIATED WITH COQ8B GENE VARIANT

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Co-author 1

Yoshiki Nagao yoshiki.n@kochi-u.ac.jp Kochi Medical School, Kochi University Department of Pediatrics Nankoku Japan *

Co-author 2

Masayuki Ishihara ishihara-masayuki@kochi-u.ac.jp Kochi Medical School, Koih University Department of Pediatrics Nankoku Japan -

Co-author 3

Kandai Nozu kandainozu@gmail.com Kobe University Department of Pediatrics Kobe Japan -

Co-author 4

Mariko Taniguchi-Ikeda mariko_ikeda@kochi-u.ac.jp Kochi Medical School, Kochi University Depatment of Pediatrics Nankoku Japan -

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Introduction

[Backgrounds] COQ8B (ADCK4) gene mutation is one of the causes of mitochondrial nephropathy. COQ10 supplementation is expected to decrease proteinuria and improve renal function. So, it is very essential to diagnose COQ10 nephropathy. COQ10 nephropathy presents in many cases with steroid-resistant nephrotic syndrome (SRNS), accompanied by focal segmental glomerulosclerosis (FSGS). We report a COQ10 nephropathy case due to COQ8B gene mutation, with mild proteinuria and minimal change disease in renal biopsy.

Methods

[Case] A 17-year-old male. Proteinuria was noted in a school urinary screening at six years of age, and he was referred to our department at age 13. A kidney biopsy was performed at 14 years old. The light microscopic findings showed minimal changes, with one global sclerosis within 30 glomeruli. All immunofluorescent were negative, and the electron microscopic findings were not remarkable changes. An angiotensin receptor blocker was started, but proteinuria persisted, so an angiotensin-converting enzyme - inhibitor was added. Proteinuria continued, serum total protein and albumin gradually decreased, and creatinine slightly increased for his age. In 2024 (at age 17), the patient underwent gene analysis.

Results

A known homozygous variant in the COQ8B gene was detected, and the patient was diagnosed with mitochondrial nephropathy. COQ10 supplementation is started and closely observed. After starting COQ10 supplementation, the previously elevated serum creatinine levels remained stable.

Conclusion

[Conclusion] Our case did not have nephrotic range proteinuria and focal segmental glomerulosclerosis (FSGS). Even in the absense of the family history of mitochondrial cytopathy, steroid-resistant nephrotic syndrome (SRNS), and focal segmental glomerulosclerosis (FSGS), the presense of persistent proteinuria should prompt consideration of the possibility of mitochondrial cytopathy and evaluation for genetic testing.

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