Case Report
Volume: 2 | Issue: 1 | Published: Jan 01, 2019 | Pages: 74 - 76 | DOI: 10.24911/JBCGenetics/183-1542540902
Heterozygous mutation in SLC36A2 gene causing hyperglycinuria and nephrolithiasis
Authors: MahaAl Harbi , Fuad Al Mutairi
Article Info
Authors
MahaAl Harbi
Medical Genetics Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Fuad Al Mutairi
Nephrology Division, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Publication History
Received: July 04, 2018
Revised: April 03, 2019
Accepted: May 03, 2019
Published: January 01, 2019
Abstract
Background: Childhood nephrolithiasis cases reported worldwide has been increasing over the last decade. The majority of cases reported are related to calcium oxalate formation which results in impairment of glycine transport in the renal tubule leading to hyperglycinuria and impaired urinary oxalate excretion with resultant nephrolithiasis. Case presentation: A 4-year-old boy was presented with oxalate nephrolithiasis and hyperglycinuria. Molecular testing confirmed a c.448G>A p. (Val150Met) mutation of heterozygous status in SLC36A2 gene. Conclusion: The likelihood of cases being reported with renal hyperglycinuria along with oxalate nephrolithiasis is very rare. The present study reports a patient presented with oxalate nephrolithiasis, hyperglycinuria and a molecular confirmation for a heterozygous c.448G>A p. (Val150Met) mutation in SLC36A2 gene.
Keywords: Children, case report, hyperglycinuria, nephrolithiasis, oxalate stone, SLC36A2
