The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report

BMC Research Notes
Randula RanawakaVajira H W Dissanayake

Abstract

Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. It is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This is the first report of a CLCN5 pathogenic variant in a Dent disease-1 family of Sri Lankan origin, and it highlights the value of genetic evaluation in children with refractory proteinuria. A 2-year-old boy with non-nephrotic range proteinuria was referred for evaluation. His maternally related 24-year-old uncle had been investigated for similar features at the age of 14 years and his renal histology had shown few sclerosed glomeruli. He remained asymptomatic apart from proteinuria. Biochemical investigation of the child showed β-2 microglobulinuria and hypercalciuria. After providing pre-test counseling and obtaining written informed consent, the child, his mother and maternal uncle underwent genetic testing for confirmation of the clinically suspected diagnosis of Dent disease-1. Both the child and his maternal uncle were found to be hemizygous for a nonsense pathogenic variant in exon 9 of the CLCN5 gene [NM_000084.4; c.1399C>T; rs79704...Continue Reading

References

Jun 1, 1964·Archives of Disease in Childhood·C E DENT, M FRIEDMAN
Aug 19, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Lawrence CopelovitchBernard S Kaplan
Nov 4, 2008·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Anne BlanchardMichel Azizi
Dec 17, 2008·Nephrology·Peng Li, Jian-Ping Huang
Jun 24, 2009·Nephron. Physiology·Fiona WuRajesh V Thakker
Oct 16, 2010·Orphanet Journal of Rare Diseases·Olivier Devuyst, Rajesh V Thakker
Jan 22, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Vidar O EdvardssonRunolfur Palsson
Sep 22, 2015·SpringerPlus·Franca AnglaniUNKNOWN Dent Disease Italian Network
Jun 28, 2016·Kidney International·Anne BlanchardRosa Vargas-Poussou
Oct 5, 2016·Clinical Journal of the American Society of Nephrology : CJASN·Xiangling WangUNKNOWN Investigators of the Rare Kidney Stone Consortium
Nov 28, 2016·Indian Pediatrics·Swati BhardwajArvind Bagga

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
electrophoresis

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Enrica TosettoF Anglani
Srpski arhiv za celokupno lekarstvo
Snezana PavicevicMira Samardzic
© 2022 Meta ULC. All rights reserved