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@article{1570405,
author = {Stiburkova, Blanka and Bohata, Jana and Minarikova, Iveta and Mancikova, Andrea and Vavra, Jiri and Krylov, Vladimir and Doležel, Zdeněk},
article_location = {BASEL},
article_number = {17},
doi = {http://dx.doi.org/10.3390/app9173479},
keywords = {SLC22A12; URAT1; hypouricemia; uric acid transporters; excretion fraction of uric acid},
language = {eng},
issn = {2076-3417},
journal = {Applied Sciences-Basel},
title = {Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia},
url = {http://dx.doi.org/10.3390/app9173479},
volume = {9},
year = {2019}
}
TY - JOUR
ID - 1570405
AU - Stiburkova, Blanka - Bohata, Jana - Minarikova, Iveta - Mancikova, Andrea - Vavra, Jiri - Krylov, Vladimir - Doležel, Zdeněk
PY - 2019
TI - Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
JF - Applied Sciences-Basel
VL - 9
IS - 17
SP - 1-8
EP - 1-8
PB - MDPI
SN - 20763417
KW - SLC22A12
KW - URAT1
KW - hypouricemia
KW - uric acid transporters
KW - excretion fraction of uric acid
UR - http://dx.doi.org/10.3390/app9173479
L2 - http://dx.doi.org/10.3390/app9173479
N2 - Renal hypouricemia (RHUC) is caused by an inherited defect in the main (reabsorptive) renal urate transporters, URAT1 and GLUT9. RHUC is characterized by decreased concentrations of serum uric acid and an increase in its excretion fraction. Patients suffer from hypouricemia, hyperuricosuria, urolithiasis, and even acute kidney injury. We report the clinical, biochemical, and genetic findings of a pediatric patient with hypouricemia. Sequencing analysis of the coding region of SLC22A12 and SLC2A9 and a functional study of a novel RHUC1 variant in the Xenopus expression system were performed. The proband showed persistent hypouricemia (67-70 mu mol/L; ref. range 120-360 mu mol/L) and hyperuricosuria (24-34%; ref. range 7.3 +/- 1.3%). The sequencing analysis identified common non-synonymous allelic variants c.73G > A, c.844G > A, c.1049C > T in the SLC2A9 gene and rare variants c.973C > T, c.1300C > T in the SLC22A12 gene. Functional characterization of the novel RHUC associated c.973C > T (p. R325W) variant showed significantly decreased urate uptake, an irregular URAT1 signal on the plasma membrane, and reduced cytoplasmic staining. RHUC is an underdiagnosed disorder and unexplained hypouricemia warrants detailed metabolic and genetic investigations. A greater awareness of URAT1 and GLUT9 deficiency by primary care physicians, nephrologists, and urologists is crucial for identifying the disorder.
ER -
STIBURKOVA, Blanka, Jana BOHATA, Iveta MINARIKOVA, Andrea MANCIKOVA, Jiri VAVRA, Vladimir KRYLOV and Zdeněk DOLEŽEL. Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia. \textit{Applied Sciences-Basel}. BASEL: MDPI, 2019, vol.~9, No~17, p.~1-8. ISSN~2076-3417. Available from: https://dx.doi.org/10.3390/app9173479.
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