Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report

Authors

  • Masoud Hassanvand Amouzadeh Neuroscience Research Center, Qom University of Medical Sciences, Qom, Iran Author
  • Mohsen Akhavan Sepahi Department of pediatric nephrology, School of Medicine, Qom University of Medical Sciences and Health Services, Qom, Iran Author
  • Ezatollah Abasi Pediatric Department, Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran Author

Abstract

We report two sisters (13- and 4-year-old) presenting with moderate intellectual disability, dysmorphic facial features, intermittent hematuria, proteinuria, and dental caries. Their parents and other family members were not affected. Whole-exome sequencing was performed to screen the underlying genetic cause. These patients have been analyzed using Next-Generation Sequencing (NGS) method and homozygote variant (c.890delC) has been detected in the THOC6 gene. Direct Sanger sequencing confirmed that they are homozygote for the pathogenic variant mutations in the THOC6 gene, which is associated with Beaulieu-Boycott-Innes syndrome (BBIS). These patients also had proteinuria and subsequently developed hematuria. This is the first report of BBIS in association with proteinuria and hematuria without renal defects. Core clinical features include low birth weight with subsequent growth failure, short stature, and intellectual disability with language delay, characteristic faces, cardiac defects, and renal anomalies. The possible pathophysiological mechanisms associated with proteinuria and transient hematuria without renal defects are discussed.

Downloads

Download data is not yet available.

Author Biography

  • Mohsen Akhavan Sepahi, Department of pediatric nephrology, School of Medicine, Qom University of Medical Sciences and Health Services, Qom, Iran
    Associate professor of pediatric nephrology, Qom University of Medical Sciences

Downloads

Published

2020-07-12

Issue

Section

CASE REPORT | Kidney Diseases

How to Cite

Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report. (2020). Iranian Journal of Kidney Diseases, 14(4), 312-314. https://ijkd.org/index.php/ijkd/article/view/4505