Results 71 to 80 of about 1,864 (192)

Hereditary renal hypouricaemia type 1 and 2 in three Spanish children. Review of published paediatric cases

Nefrología (English Edition), 2019
Hereditary renal hypouricemia is a rare autosomal recessive genetic disorder that involves an isolated defect in uric acid reabsorption at the renal tubules.
Amelia Peris Vidal, Juan Marin Serra, Elena Lucas Sáez, Susana Ferrando Monleón, Félix Claverie-Martin, Ana Perdomo Ramírez, Jorge Trujillo-Suarez, Jaime Fons Moreno   +7 more
doaj   +1 more source

Association between 25-hydroxy vitamin D insufficiency and serum uric acid levels compared to the gender and age categories

Italian Journal of Medicine
Vitamin D and uric acid play important roles in human physiology, with their levels influenced by various factors, including age, gender, diet, and metabolic health.
Salah Eldin Omar Hussein, Awadh S. Alsubhi, Abdulrahman Algarni, Elryah I. Ali, Tagwa Yousif Elsayed Yousif, Ammar Abdelmola, Elyasa Elfaki, Wael Alzahrani, Ayman Hussien Alfeel   +8 more
doaj   +1 more source

Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados

Nefrología, 2019
Resumen: La hipouricemia renal hereditaria es un trastorno genético, poco frecuente, causado por un defecto aislado en la reabsorción del ácido úrico a nivel del túbulo renal.
Amelia Peris Vidal, Juan Marin Serra, Elena Lucas Sáez, Susana Ferrando Monleón, Félix Claverie-Martin, Ana Perdomo Ramírez, Jorge Trujillo-Suarez, Jaime Fons Moreno   +7 more
doaj   +1 more source

Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation

, 2011
Renal hypouricemia (RHU) is a hereditary disease that predisposes affected people to exercise-induced acute renal failure (EIARF). In most patients with RHU, the disorder is caused by loss-of-function mutations in SLC22A12 (solute carrier family 22 ...
Norishige Yoshikawa, Hiroshi Kaito, Hiroko Togawa, Yuko Shima, Kazumoto Iijima, Kandai Nozu, Koichi Nakanishi, Yoshimi Nozu, Masafumi Matsuo   +8 more
core   +1 more source

Prevalence and factors related to hypouricemia and hyperuricemia in schoolchildren: results of a large-scale cross-sectional population-based study conducted in Japan [PDF]

香川大学Kagawa University博士（医学）Hypouricemia in children including renal hypouricemia, which is a major cause of exercise-induced acute renal injury (EIAKI), is an important clinical problem, in addition to hyperuricemia.
アオキ, ユウヘイ, Aoki, Yuhe, 青木, 雄平   +2 more
core   +1 more source

Association between hypouricemia and reduced kidney function : a cross-sectional population-based study in Japan [PDF]

Background: Hypouricemia, conventionally defined as a serum uric acid level of ≤2 mg/dL, is considered a biochemical disorder with no clinical significance.
4051, 4052, Narita, Ichiei, 48, Asahi, Koichi, Iseki, Kunitoshi, Tsuruya, Kazuhiko, 4050, Wakasugi, Minako, Kazama, Junichiro James, 4048, 4049, Kurahashi, Issei, Kondo, Masahide, Kimura, Kenjiro, Yamagata, Kunihiro, 4040, 4041, Fujimoto, Shouichi, 4042, 4043, 4044, 4045, 4046, 4047, Konta, Tsuneo, Ohashi, Yasuo, Watanabe, Tsuyoshi, Moriyama, Toshiki, 4039   +29 more
core   +1 more source

The prognostic value of admission serum uric acid for acute kidney injury: a two-center retrospective analysis

Frontiers in Molecular Biosciences
BackgroundAcute kidney injury (AKI) is a serious clinical syndrome, with elevated serum uric acid (SUA) recognized as a potential modifiable risk factor. Nonetheless, the association between reduced SUA and the risk of AKI, along with the modification by
Shuo Huang, Shuo Huang, Shuo Huang, Shuo Huang, Shuo Huang, Linger Tang, Linger Tang, Linger Tang, Linger Tang, Linger Tang, Lingyi Xu, Lingyi Xu, Lingyi Xu, Lingyi Xu, Lingyi Xu, Jinwei Wang, Jinwei Wang, Jinwei Wang, Jinwei Wang, Jinwei Wang, Xizi Zheng, Xizi Zheng, Xizi Zheng, Xizi Zheng, Xizi Zheng   +24 more
doaj   +1 more source

The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2

, 2023
Uric acid is the end product of purine metabolism. Uric acid transporters in the renal proximal tubule plays a key role in uric acid transport. Functional abnormalities in these transporters could lead to high or low levels of uric acid in the blood ...
Shahsavari, S, Shahin Shahsavari, Sung Kweon Cho, Cho, SK, Raul Cachau, Cachau, R   +5 more
core   +1 more source

Exercise-Induced Acute Kidney Injury: A Case of Renal Hypouricemia

Turkish Journal of Nephrology, 2019
Hereditary renal hypouricemia is a rare inherited disorder characterized by reduced tubular reabsorption of urate and low serum urate levels. Although it is usually asymptomatic, it may be complicated by exercise-induced acute kidney injury.
Simge BARDAK, Kenan TURGUTALP, Ahmet KIYKIM   +2 more
doaj  

A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

BMC Pediatrics, 2018
Background Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion.
Dinesha Maduri Vidanapathirana, Subashinie Jayasena, Eresha Jasinge, Blanka Stiburkova   +3 more
doaj   +1 more source