Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F21%3AN0000004" target="_blank" >RIV/00023728:_____/21:N0000004 - isvavai.cz</a>
Alternative codes found
RIV/00023728:_____/21:N0000065 RIV/00216208:11110/21:10434998 RIV/00064165:_____/21:10434998
Result on the web
<a href="https://doi.org/10.3390/biomedicines9111607" target="_blank" >https://doi.org/10.3390/biomedicines9111607</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3390/biomedicines9111607" target="_blank" >10.3390/biomedicines9111607</a>
Alternative languages
Result language
angličtina
Original language name
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population
Original language description
Renal hypouricemia (RHUC) is caused by an inherited defect in the main reabsorption system of uric acid, SLC22A12 (URAT1) and SLC2A9 (GLUT9). RHUC is characterized by a decreased serum uric acid concentration and an increase in its excreted fraction. Patients suffer from hypouricemia, hyperuricosuria, urolithiasis, and even acute kidney injury. We report clinical, biochemical, and genetic findings in a cohort recruited from the Kosice region of Slovakia consisting of 27 subjects with hypouricemia and relatives from 11 families, 10 of whom were of Roma ethnicity. We amplified, directly sequenced, and analyzed all coding regions and exon-intron boundaries of the SLC22A12 and SLC2A9 genes. Sequence analysis identified dysfunctional variants c.1245_1253del and c.1400C > T in the SLC22A12 gene, but no other causal allelic variants were found. One heterozygote and one homozygote for c.1245_1253del, nine heterozygotes and one homozygote for c.1400C > T, and two compound heterozygotes for c.1400C > T and c.1245_1253del were found in a total of 14 subjects. Our result confirms the prevalence of dysfunctional URAT1 variants in Roma subjects based on analyses in Slovak, Czech, and Spanish cohorts, and for the first time in a Macedonian Roma cohort. Although RHUC1 is a rare inherited disease, the frequency of URAT1-associated variants indicates that this disease is underdiagnosed. Our findings illustrate that there are common dysfunctional URAT1 allelic variants in the general Roma population that should be routinely considered in clinical practice as part of the diagnosis of Roma patients with hypouricemia and hyperuricosuria exhibiting clinical signs such as urolithiasis, nephrolithiasis, and acute kidney injury.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30104 - Pharmacology and pharmacy
Result continuities
Project
<a href="/en/project/LM2018125" target="_blank" >LM2018125: Bank of Clinical Samples</a><br>
Continuities
—
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
BIOMEDICINES
ISSN
2227-9059
e-ISSN
2227-9059
Volume of the periodical
9
Issue of the periodical within the volume
Art. Nr. 1607
Country of publishing house
CH - SWITZERLAND
Number of pages
10
Pages from-to
1-10
UT code for WoS article
000725869300001
EID of the result in the Scopus database
2-s2.0-85119579954