Genetic background of selected hyperuricemia causing gout with pediatric onset

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Genetic background of selected hyperuricemia causing gout with pediatric onset

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Genetic background of selected hyperuricemia causing gout with pediatric onset

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30226 - Rheumatology

Projekt

<a href="/cs/project/NU22-01-00465" target="_blank" >NU22-01-00465: Charakteristika a konsekvence genetických variant spojených s hyperurikémií, dnavou progresí, nástupem onemocnění a efektem léčby: perspektiva včasné diagnostiky a individualizované léčby v klinické praxi</a><br>

Návaznosti

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

Rok uplatnění

2025

Kód důvěrnosti údajů

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

Název periodika

JOINT BONE SPINE

ISSN

1297-319X

e-ISSN

1778-7254

Svazek periodika

92

Číslo periodika v rámci svazku

Art. Nr. 105884

Stát vydavatele periodika

FR - Francouzská republika

Počet stran výsledku

8

Strana od-do

1-8

Kód UT WoS článku

001457110600001

EID výsledku v databázi Scopus

2-s2.0-105000790112