Genetic background of selected hyperuricemia causing gout with pediatric onset

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023728%3A_____%2F25%3AN0000034" target="_blank" >RIV/00023728:_____/25:N0000034 - isvavai.cz</a>

Result on the web

<a href="https://doi.org/10.1016/j.jbspin.2025.105884" target="_blank" >https://doi.org/10.1016/j.jbspin.2025.105884</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.jbspin.2025.105884" target="_blank" >10.1016/j.jbspin.2025.105884</a>

Result language

angličtina

Original language name

Genetic background of selected hyperuricemia causing gout with pediatric onset

Original language description

Elevated serum uric acid levels are the essential pathophysiology of gout. Although gout rarely develops in childhood, chronic persistent hyperuricemia can induce precipitation and deposition of sodium urate crystals, leading to the development of gout. Hyperuricemia is caused by increased uric acid production and/or decreased uric acid excretion capacity of the kidneys and/or intestinal tract. Increased production of uric acid, the final metabolite of purine, is associated with an increase of phosphoribosyl pyrophosphate, the key compound in the purine synthesis pathways, as observed in hypoxanthineguanine phosphoribosyltransferase deficiency. Another mechanism for increased uric acid production is increased adenosine triphosphate consumption that is found in glycogen storage disease type I. On the other hand, in uromodulin-associated kidney disease, the accumulation of abnormal uromodulin in the kidneys leads to tubulointerstitial damage and fibrosis, and the ability to excrete uric acid is compromised, with reduced secretion and increased reabsorption in the proximal tubules. Decreased uric acid excretion from the kidneys or intestinal tract is also mediated by decreased function of the ATP-binding cassette subfamily G member 2, a urate transporter that acts in the urate secretion. This review summarizes the selected pathophysiological mechanisms underlying the genetic basis of hyperuricemia and gout in children, both in terms of purine metabolism and uric acid excretion. (c) 2025 Soci ot o Fran oaise de Rhumatologie. Published by Elsevier Masson SAS. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30226 - Rheumatology

Project

<a href="/en/project/NU22-01-00465" target="_blank" >NU22-01-00465: Characteristics and consequences of genetic variants associated with hyperuricemia, gout progression, disease onset, and treatment effects: a perspective on an early diagnosis and individualized treatment in clinical practice</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2025

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

JOINT BONE SPINE

ISSN

1297-319X

e-ISSN

1778-7254

Volume of the periodical

92

Issue of the periodical within the volume

Art. Nr. 105884

Country of publishing house

FR - FRANCE

Number of pages

8

Pages from-to

1-8

UT code for WoS article

001457110600001

EID of the result in the Scopus database

2-s2.0-105000790112