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 rates of consanguinity here.

Spatially contrastive variational autoencoder for deciphering tissue heterogeneity from spatially resolved transcriptomics

“…Then for the ventricle area, the shape of the detected domain was consistent with that of the region where the marker gene (i.e. Adck4 [ 34 ]) expressed at a prominently high level. Furthermore, SpaCAE successfully identified the LGD and VPM regions in the thalamus, which were not captured by other methods, and Tnnt1 displayed specific spatial gene expression patterns in these areas [ 35 ] ( Figure 4B ).…”