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ORIGINAL RESEARCH article

Front. Pediatr.
Sec. Pediatric Nephrology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1378083

Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review

Provisionally accepted
Lei Zhang Lei Zhang 1*Gentzon Hall Gentzon Hall 2Peitong Han Peitong Han 1Chunzhen Li Chunzhen Li 1Jieyuan Cui Jieyuan Cui 1
  • 1 Hebei Provincial Children's Hospital, Shijiazhuang, China
  • 2 Duke Clinical Research Institute, School of Medicine, Duke University, Durham, North Carolina, United States

The final, formatted version of the article will be published soon.

    We report 4 patients from two different families with biopsy-proven steroid-resistant nephrotic syndrome (SRNS). The patients were followed clinically for almost 3 years. Clinical genetic testing performed to evaluate for the cause of unexplained proteinuria in the patients revealed a rare homozygous missense variant of COQ8B in affected individuals from the first family and a rare compound heterozygous missense variant of COQ8B in an affected individual from the second family. An affected individual from the family bearing the homozygous COQ8B variant died at age 11 from kidney failure. The condition of her two affected siblings improved with early coenzyme Q10 treatment and their renal function remains normal. The affected patient from the family bearing the compound heterozygous COQ8B variant who received coenzyme Q10 treatment later after being unresponsive to corticosteroids and immunosuppressants, developed kidney failure.

    Keywords: COQ8B variant, Glomerulopathy, steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, autosomal recessive

    Received: 04 Apr 2024; Accepted: 17 Dec 2024.

    Copyright: © 2024 Zhang, Hall, Han, Li and Cui. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Lei Zhang, Hebei Provincial Children's Hospital, Shijiazhuang, China

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