Mitochondrial Disease and the Kidney With a Special Focus on CoQ₁₀ Deficiency

Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation, leading to multi-organ involvement and progressive clinical deterioration. Most mitochondrial cytopathies that cause kidney symptoms are characterized by tubular defects, but glomerular, tubulointerstitial, and cystic diseases have also been described. Mitochondrial cytopathies can result from mitochondrial or nuclear DNA mutations. Early recognition of defects in the coenzyme Q₁₀ (CoQ₁₀) biosynthesis is important, as patients with primary CoQ₁₀ deficiency may be responsive to treatment with oral CoQ₁₀ supplementation, in contrast to most mitochondrial diseases. A literature search was conducted to investigate kidney involvement in genetic mitochondrial cytopathies and to identify mitochondrial and nuclear DNA mutations involved in mitochondrial kidney disease. Furthermore, we identified all reported cases to date with a CoQ₁₀ deficiency with glomerular involvement, including 3 patients with variable renal phenotypes in our clinic. To date, 144 patients from 95 families with a primary CoQ₁₀ deficiency and glomerular involvement have been described based on mutations in PDSS1, PDSS2, COQ2, COQ6, and COQ8B/ADCK4. This review provides an overview of kidney involvement in genetic mitochondrial cytopathies with a special focus on CoQ₁₀ deficiency.