학술논문
Hemizygous loss of function mutations in CLCN5 causing end-stage kidney disease without Dent disease phenotype
EXCEPTIONAL CASE
EXCEPTIONAL CASE
Document Type
Academic Journal
Author
Source
Clinical Kidney Journal. January 2023, Vol. 16 Issue 1, p192, 3 p.
Subject
Language
English
ISSN
2048-8505
Abstract
INTRODUCTION Dent disease type 1 is an X-linked disorder predominantly affecting males with causal mutations in chloride voltage-gated channel 5 (CLCN5), resulting in proximal kidney tubule dysfunction. Prior to routine [...]
Dent disease type 1 is suspected in the presence of a complete phenotype of low molecular weight (LMW) proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, nephrolithiasis, haematuria, hypophosphatemia or chronic kidney disease (CKD). We present two brothers who presented with CKD alone. In the absence of typical clinical features, further assessment of LMW proteinuria and hypercalciuria was not undertaken. Whole-genome sequencing revealed hemizygous loss of function mutations in chloride voltage-gated channel 5 (CLCN5) consistent with Dent disease. Dent disease should, therefore, be considered in patients with an incomplete phenotype, including unexplained CKD alone. Keywords: chronic kidney disease, CLCN5, Dent disease, nephrocalcinosis, nephrolithiasis
Dent disease type 1 is suspected in the presence of a complete phenotype of low molecular weight (LMW) proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, nephrolithiasis, haematuria, hypophosphatemia or chronic kidney disease (CKD). We present two brothers who presented with CKD alone. In the absence of typical clinical features, further assessment of LMW proteinuria and hypercalciuria was not undertaken. Whole-genome sequencing revealed hemizygous loss of function mutations in chloride voltage-gated channel 5 (CLCN5) consistent with Dent disease. Dent disease should, therefore, be considered in patients with an incomplete phenotype, including unexplained CKD alone. Keywords: chronic kidney disease, CLCN5, Dent disease, nephrocalcinosis, nephrolithiasis