COQ8B-Related Steroid-Resistant Nephrotic Syndrome in Saudi Arabia: A Case Report.

ABSTRACT: The CoQ10 enzyme has several vital roles in the human body. CoQ10 deficiency can lead to many clinical manifestations including the steroid-resistant nephrotic syndrome. At least 16 genes work together to facilitate the correct synthesis of CoQ10, one of which is CoQ8B. We report the case of a 14-year-old male with a rare homozygous variant, who presented with late severe nephrotic syndrome and bilateral small dysplastic kidneys. This report will also describe the comprehensive and systemic workup that is needed in these patients. We conclude that physicians need to consider renal causes in their workup of any unexplained oedema in children and that in such cases, screening for rarer genetic causes should be considered in a country such as Saudi Arabia, given the relatively high rat

SUBMITTER: Alvi NH 

PROVIDER: S-EPMC9749873 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature