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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

ABSTRACT: BACKGROUND:Nephrotic syndrome can be caused by a subgroup of mitochondrial diseases classified as primary coenzyme Q10 (CoQ10) deficiency. Pathogenic COQ2 variants are a cause of primary CoQ10 deficiency and present with phenotypes ranging from isolated nephrotic syndrome to fatal multisystem disease. CASE-DIAGNOSIS/TREATMENT:We report three pediatric patients with COQ2 variants presenting with nephrotic syndrome. Two of these patients had normal leukocyte CoQ10 levels prior to treatment. Pathologic findings varied from mesangial sclerosis to focal segmental glomerulosclerosis, with all patients having abnormal appearing mitochondria on kidney biopsy. In two of the three patients treated with CoQ10 supplementation, the nephrotic syndrome resolved; and at follow-up, both have normal renal function and stable proteinuria. CONCLUSIONS:COQ2 nephropathy should be suspected in patients presenting with nephrotic syndrome, although less common than disease due to mutations in NPHS1, NPHS2, and WT1. The index of suspicion should remain high, and we suggest that providers consider genetic evaluation even in patients with normal leukocyte CoQ10 levels, as levels may be within normal range even with significant clinical disease. Early molecular diagnosis and specific treatment are essential in the management of this severe yet treatable condition.

SUBMITTER: Starr MC

PROVIDER: S-EPMC5990461 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature

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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Starr Michelle C MC Chang Irene J IJ Finn Laura S LS Sun Angela A Larson Austin A AA Goebel Jens J Hanevold Coral C Thies Jenny J Van Hove Johan L K JLK Hingorani Sangeeta R SR Lam Christina C

Pediatric nephrology (Berlin, Germany) 20180410 7

<h4>Background</h4>Nephrotic syndrome can be caused by a subgroup of mitochondrial diseases classified as primary coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) deficiency. Pathogenic COQ2 variants are a cause of primary CoQ<sub>10</sub> deficiency and present with phenotypes ranging from isolated nephrotic syndrome to fatal multisystem disease.<h4>Case-diagnosis/treatment</h4>We report three pediatric patients with COQ2 variants presenting with nephrotic syndrome. Two of these patients had normal l ...[more]

PMID: 29637272

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Project description:Background and objectivesChildren with nephrotic syndrome can develop life-threatening complications, including infection and thrombosis. While AKI is associated with adverse outcomes in hospitalized children, little is known about the epidemiology of AKI in children with nephrotic syndrome. The main objectives of this study were to determine the incidence, epidemiology, and hospital outcomes associated with AKI in a modern cohort of children hospitalized with nephrotic syndrome.Design, setting, participants, & measurementsRecords of children with nephrotic syndrome admitted to 17 pediatric nephrology centers across North America from 2010 to 2012 were reviewed. AKI was classified using the pediatric RIFLE definition.ResultsAKI occurred in 58.6% of 336 children and 50.9% of 615 hospitalizations (27.3% in stage R, 17.2% in stage I, and 6.3% in stage F). After adjustment for race, sex, age at admission, and clinical diagnosis, infection (odds ratio, 2.24; 95% confidence interval, 1.37 to 3.65; P=0.001), nephrotoxic medication exposure (odds ratio, 1.35; 95% confidence interval, 1.11 to 1.64; P=0.002), days of nephrotoxic medication exposure (odds ratio, 1.10; 95% confidence interval, 1.05 to 1.15; P<0.001), and intensity of medication exposure (odds ratio, 1.34; 95% confidence interval, 1.09 to 1.65; P=0.01) remained significantly associated with AKI in children with nephrotic syndrome. Nephrotoxic medication exposure was common in this population, and each additional nephrotoxic medication received during a hospitalization was associated with 38% higher risk of AKI. AKI was associated with longer hospital stay after adjustment for race, sex, age at admission, clinical diagnosis, and infection (difference, 0.45 [log]days; 95% confidence interval, 0.36 to 0.53 [log]days; P<0.001).ConclusionsAKI is common in children hospitalized with nephrotic syndrome and should be deemed the third major complication of nephrotic syndrome in children in addition to infection and venous thromboembolism. Risk factors for AKI include steroid-resistant nephrotic syndrome, infection, and nephrotoxic medication exposure. Children with AKI have longer hospital lengths of stay and increased need for intensive care unit admission.

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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Publications

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

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