CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy—a case report

Stańczyk, Małgorzata; Bałasz-Chmielewska, Irena; Lipska‐Ziętkiewicz, Beata S.; Tkaczyk, Marcin

doi:10.1007/s00467-018-4083-3

Cited by 24 publications

(23 citation statements)

References 14 publications

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“…Following the treatment with CoQ10, there was a marked decrease in urinary CoQ10, which was consistent with proteinuria remission. Interestingly, this phenomenon is consistent with the change of plasma CoQ10 in a patient with proteinuria caused by a COQ6 gene defect [12]. The decrease of urinary CoQ10 concentration in our patient during therapy is unclear.…”

Section: Discussionsupporting

confidence: 87%

Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report

et al. 2021

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Background AarF domain-containing kinase 4 (ADCK4)-associated glomerulopathy is a mitochondrial nephropathy caused by mutations in the ADCK4 gene, which disrupt coenzyme Q10 biosynthesis. Case presentation We report the case of a 25-year-old female patient with ADCK4-associated glomerulopathy presenting with proteinuria (and with no additional systemic symptoms). A known missense substitution c.737G > A (p.S246N) and a novel frameshift c.577-600del (p.193-200del) mutation were found. We followed the patient for 24 months during supplementation with coenzyme Q10 (20 mg/kg/d – 30 mg/kg/d) and describe the clinical course. In addition, we measured serum and urine coenzyme Q10 levels before and after coenzyme Q10 supplementation and compared them with those of healthy control subjects. The patient’s urinary coenzyme Q10 to creatinine ratio was higher than that of healthy controls before coenzyme Q10 supplementation, but decreased consistently with proteinuria after coenzyme Q10 supplementation. Conclusions Although the use of urinary coenzyme Q10 as a diagnostic biomarker and predictor of clinical remission in patients with ADCK4-associated glomerulopathy should be confirmed by larger studies, we recommend measuring urinary coenzyme Q10 in patients with isolated proteinuria of unknown cause, since it may provide a diagnostic clue to mitochondrial nephropathy.

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Section: Discussionsupporting

confidence: 87%

Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report

et al. 2021

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“…In 2011, Heeringa et al [65] reported a novel cause for steroid-resistant nephrotic syndrome associated with sensorineural hearing loss due to variants in the COQ6 gene. Twenty-three patients in 16 families with similar clinical manifestations and two mutations in the COQ6 gene have been identified to date [65][66][67][68][69][70][71] . Extra-renal manifestations such as ataxia, seizures, muscle weakness, white matter changes, and optic atrophy were less common [65,68] .…”

Section: Coq6 Deficiency (Omim #614650)mentioning

confidence: 99%

“…Coenzyme Q10 supplementation alone at 5-30 mg/kg/day was reported in a few patients. Significant improvement in proteinuria with normal renal function was noted on follow-up of these patients [66,70,[72][73][74] ) However, hearing loss had not improved after Coenzyme Q10 supplementation [66,72] . Hence, early supplementation of Coenzyme Q10 seemed to help avoid development of massive proteinuria and consequently chronic renal failure [72] .…”

Section: Coq6 Deficiency (Omim #614650)mentioning

confidence: 99%

Riboflavin metabolism: role in mitochondrial function

Balasubramaniam¹,

Yaplito‐Lee²

2020

jtgg

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Riboflavin, known as vitamin B2, a water-soluble vitamin, is an essential nutrient in vertebrates, hence adequate dietary intake is imperative. Riboflavin plays a role in a variety of metabolic pathways, serving primarily as an integral component of its crucial biologically active forms, the flavocoenzymes flavin adenine dinucleotide and flavin mononucleotide. These flavocoenzymes ensure the functionality of numerous flavoproteins including dehydrogenases, oxidases, monooxygenases, and reductases, which play pivotal roles in mitochondrial electron transport chain, β-oxidation of fatty acids, redox homeostasis, citric acid cycle, branched-chain amino acid catabolism, chromatin remodeling, DNA repair, protein folding, and apoptosis. Unsurprisingly, impairment of flavin homeostasis in humans has been linked to various diseases including neuromuscular and neurological disorders, abnormal fetal development, and cardiovascular diseases. This review presents an overview of riboflavin metabolism, its role in mitochondrial function, primary and secondary flavocoenzyme defects associated with mitochondrial dysfunction, and the role of riboflavin supplementation in these conditions.

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“…Several clinical case series have now tested a therapeutic role for oral CoQ 10 or its synthetic analogue idebenone, and demonstrated that SRNS and FSGS can be stabilized or reduced in children if the disease is treated fairly early in its course 106 , 107 (Fig. 2b ).…”

Section: Targeting Mitochondrial Functionmentioning

confidence: 99%

The glomerular filtration barrier: a structural target for novel kidney therapies

Daehn

Duffield

2021

Nat Rev Drug Discov

127

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Loss of normal kidney function affects more than 10% of the population and contributes to morbidity and mortality. Kidney diseases are currently treated with immunosuppressive agents, antihypertensives and diuretics with partial but limited success. Most kidney disease is characterized by breakdown of the glomerular filtration barrier (GFB). Specialized podocyte cells maintain the GFB, and structure–function experiments and studies of intercellular communication between the podocytes and other GFB cells, combined with advances from genetics and genomics, have laid the groundwork for a new generation of therapies that directly intervene at the GFB. These include inhibitors of apolipoprotein L1 (APOL1), short transient receptor potential channels (TRPCs), soluble fms-like tyrosine kinase 1 (sFLT1; also known as soluble vascular endothelial growth factor receptor 1), roundabout homologue 2 (ROBO2), endothelin receptor A, soluble urokinase plasminogen activator surface receptor (suPAR) and substrate intermediates for coenzyme Q10 (CoQ 10 ). These molecular targets converge on two key components of GFB biology: mitochondrial function and the actin–myosin contractile machinery. This Review discusses therapies and developments focused on maintaining GFB integrity, and the emerging questions in this evolving field.

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CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy—a case report

Cited by 24 publications

References 14 publications

Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report

Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report

Riboflavin metabolism: role in mitochondrial function

The glomerular filtration barrier: a structural target for novel kidney therapies

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