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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Pediatr Nephrol. 2018 07; 33(7):1257-1261.PN

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.

Authors+Show Affiliations

Department of Pediatrics, Division of Nephrology, Seattle Children's Hospital and University of Washington, 4800 Sand Point Way NE, OC.9.830, Seattle, WA, 98105, USA. michelle.starr@seattlechildrens.org.Department of Medical Genetics, University of Washington Medical Center, Seattle, WA, USA.Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.Department of Pediatrics, Section of Nephrology, University of Colorado, Aurora, CO, USA.Department of Pediatrics, Division of Nephrology, Seattle Children's Hospital and University of Washington, 4800 Sand Point Way NE, OC.9.830, Seattle, WA, 98105, USA.Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, CO, USA.Department of Pediatrics, Division of Nephrology, Seattle Children's Hospital and University of Washington, 4800 Sand Point Way NE, OC.9.830, Seattle, WA, 98105, USA.Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

29637272

Citation

Starr, Michelle C., et al. "COQ2 Nephropathy: a Treatable Cause of Nephrotic Syndrome in Children." Pediatric Nephrology (Berlin, Germany), vol. 33, no. 7, 2018, pp. 1257-1261.
Starr MC, Chang IJ, Finn LS, et al. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. Pediatr Nephrol. 2018;33(7):1257-1261.
Starr, M. C., Chang, I. J., Finn, L. S., Sun, A., Larson, A. A., Goebel, J., Hanevold, C., Thies, J., Van Hove, J. L. K., Hingorani, S. R., & Lam, C. (2018). COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. Pediatric Nephrology (Berlin, Germany), 33(7), 1257-1261. https://doi.org/10.1007/s00467-018-3937-z
Starr MC, et al. COQ2 Nephropathy: a Treatable Cause of Nephrotic Syndrome in Children. Pediatr Nephrol. 2018;33(7):1257-1261. PubMed PMID: 29637272.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. AU - Starr,Michelle C, AU - Chang,Irene J, AU - Finn,Laura S, AU - Sun,Angela, AU - Larson,Austin A, AU - Goebel,Jens, AU - Hanevold,Coral, AU - Thies,Jenny, AU - Van Hove,Johan L K, AU - Hingorani,Sangeeta R, AU - Lam,Christina, Y1 - 2018/04/10/ PY - 2017/12/15/received PY - 2018/02/19/accepted PY - 2018/02/15/revised PY - 2018/4/11/pubmed PY - 2019/10/8/medline PY - 2018/4/12/entrez KW - COQ2 nephropathy KW - Coenzyme Q10 deficiency KW - Kidney pathology KW - Mitochondrial proliferation in podocytes KW - Nephrotic syndrome KW - Ubiquinone SP - 1257 EP - 1261 JF - Pediatric nephrology (Berlin, Germany) JO - Pediatr Nephrol VL - 33 IS - 7 N2 - 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. SN - 1432-198X UR - https://www.unboundmedicine.com/medline/citation/29637272/COQ2_nephropathy:_a_treatable_cause_of_nephrotic_syndrome_in_children_ L2 - https://dx.doi.org/10.1007/s00467-018-3937-z DB - PRIME DP - Unbound Medicine ER -