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29 Results Found

  • Review
  • Open Access
29 Citations
9,940 Views
15 Pages

Hypouricemia and Urate Transporters

  • Naoyuki Otani,
  • Motoshi Ouchi,
  • Kazuharu Misawa,
  • Ichiro Hisatome and
  • Naohiko Anzai

Hypouricemia is recognized as a rare disorder, defined as a serum uric acid level of 2.0 mg/dL or less. Hypouricemia is divided into an overexcretion type and an underproduction type. The former typical disease is xanthinuria, and the latter is renal...

  • Article
  • Open Access
4 Citations
3,076 Views
14 Pages

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia

  • Jaeho Yoon,
  • Raul Cachau,
  • Victor A. David,
  • Mary Thompson,
  • Wooram Jung,
  • Sun-Ha Jee,
  • Ira O. Daar,
  • Cheryl A. Winkler and
  • Sung-Kweon Cho

Renal hypouricemia is a rare genetic disorder. Hypouricemia can present as renal stones or exercise-induced acute renal failure, but most cases are asymptomatic. Our previous study showed that two recessive variants of SLC22A12 (p.Trp258*, pArg90His)...

  • Article
  • Open Access
15 Citations
3,337 Views
14 Pages

Distribution and Characteristics of Hypouricemia within the Japanese General Population: A Cross-Sectional Study

  • Shin Kawasoe,
  • Kazuki Ide,
  • Tomoko Usui,
  • Takuro Kubozono,
  • Shiro Yoshifuku,
  • Hironori Miyahara,
  • Shigeho Maenohara,
  • Mitsuru Ohishi and
  • Koji Kawakami

Background and objectives: There is insufficient epidemiological knowledge of hypouricemia. In this study, we aimed to describe the distribution and characteristics of Japanese subjects with hypouricemia. Materials and Methods: Data from subjects who...

  • Article
  • Open Access
16 Citations
3,362 Views
16 Pages

Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia

  • Daisuke Miyamoto,
  • Nana Sato,
  • Koji Nagata,
  • Yukinao Sakai,
  • Hitoshi Sugihara,
  • Yuki Ohashi,
  • Blanka Stiburkova,
  • Ivan Sebesta,
  • Kimiyoshi Ichida and
  • Ken Okamoto

Renal hypouricemia is a disease caused by the dysfunction of renal urate transporters. This disease is known to cause exercise-induced acute kidney injury, but its mechanism has not yet been established. To analyze the mechanism by which hypouricemia...

  • Review
  • Open Access
17 Citations
5,072 Views
10 Pages

Renal hypouricemia (RHUC) is a hereditary disease that presents with increased renal urate clearance and hypouricemia due to genetic mutations in the urate transporter URAT1 or GLUT9 that reabsorbs urates in the renal proximal tubule. Exercise-induce...

  • Article
  • Open Access
2 Citations
3,119 Views
8 Pages

Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia

  • Blanka Stiburkova,
  • Jana Bohata,
  • Iveta Minarikova,
  • Andrea Mancikova,
  • Jiri Vavra,
  • Vladimír Krylov and
  • Zdenek Doležel

23 August 2019

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...

  • Review
  • Open Access
19 Citations
4,894 Views
17 Pages

Dysuricemia—A New Concept Encompassing Hyperuricemia and Hypouricemia

  • Naoyuki Otani,
  • Motoshi Ouchi,
  • Einosuke Mizuta,
  • Asuka Morita,
  • Tomoe Fujita,
  • Naohiko Anzai and
  • Ichiro Hisatome

The importance of uric acid, the final metabolite of purines excreted by the kidneys and intestines, was not previously recognized, except for its role in forming crystals in the joints and causing gout. However, recent evidence implies that uric aci...

  • Article
  • Open Access
15 Citations
3,135 Views
10 Pages

Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population

  • Blanka Stiburkova,
  • Jana Bohatá,
  • Kateřina Pavelcová,
  • Velibor Tasic,
  • Dijana Plaseska-Karanfilska,
  • Sung-Kweon Cho,
  • Ludmila Potočnaková and
  • Jana Šaligová

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....

  • Article
  • Open Access
967 Views
10 Pages

Hypouricemia in Behçet’s Syndrome: Prevalence and Clinical Outcomes

  • Burak Oz,
  • Ibrahım Gunduz,
  • Ahmet Karatas and
  • Suleyman S. Koca

17 April 2025

Background and Objectives: Behçet’s syndrome (BS) is a systemic inflammatory disorder characterized by recurrent oral and genital ulcers, uveitis, and vascular involvement. Serum uric acid (SUA) has been implicated in various inflammator...

  • Review
  • Open Access
12 Citations
2,640 Views
12 Pages

A genetic defect in urate transporter 1 (URAT1) is the major cause of renal hypouricemia (RHUC). Although RHUC is detected using a serum uric acid (UA) concentration <2.0 mg/dL, the relationship between the genetic state of URAT1 and serum UA conc...

  • Case Report
  • Open Access
3 Citations
2,801 Views
10 Pages

20 September 2023

Renal hypouricemia (RHUC) is a rare hereditary disorder caused by loss-of-function mutations in the SLC22A12 (RHUC type 1) or SLC2A9 (RHUC type 2) genes, encoding urate transporters URAT1 and GLUT9, respectively, that reabsorb urate in the renal prox...

  • Article
  • Open Access
8 Citations
4,319 Views
13 Pages

A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals

  • Yusuke Kawamura,
  • Akiyoshi Nakayama,
  • Seiko Shimizu,
  • Yu Toyoda,
  • Yuichiro Nishida,
  • Asahi Hishida,
  • Sakurako Katsuura-Kamano,
  • Kenichi Shibuya,
  • Takashi Tamura and
  • Makoto Kawaguchi
  • + 16 authors

Background: Renal hypouricemia (RHUC) is characterized by a low serum uric acid (SUA) level and high fractional excretion of uric acid (FEUA). Further studies on FEUA in hypouricemic individuals are needed for a more accurate diagnosis of RHUC. Metho...

  • Review
  • Open Access
41 Citations
7,181 Views
15 Pages

Impact of Hyper- and Hypo-Uricemia on Kidney Function

  • Junichiro Miake,
  • Ichiro Hisatome,
  • Katsuyuki Tomita,
  • Tadahiro Isoyama,
  • Shinobu Sugihara,
  • Masanari Kuwabara,
  • Kazuhide Ogino and
  • Haruaki Ninomiya

Uric acid (UA) forms monosodium urate (MSU) crystals to exert proinflammatory actions, thus causing gout arthritis, urolithiasis, kidney disease, and cardiovascular disease. UA is also one of the most potent antioxidants that suppresses oxidative str...

  • Article
  • Open Access
7 Citations
3,395 Views
13 Pages

Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)

  • Ana Perdomo-Ramirez,
  • Elizabeth Cordoba-Lanus,
  • Carmen Jane Trujillo-Frias,
  • Carolina Gonzalez-Navasa,
  • Elena Ramos-Trujillo,
  • Maria Isabel Luis-Yanes,
  • Victor Garcia-Nieto and
  • Felix Claverie-Martin

Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting in low urate serum levels and increased urate excretion. Some patients may present severe complications such as exerc...

  • Review
  • Open Access
26 Citations
11,729 Views
14 Pages

15 November 2022

Serum uric acid levels are altered by kidney disorders because the kidneys play a dominant role in uric acid excretion. Here, major kidney disorders which accompany hyperuricemia or hypouricemia, including their pathophysiology, are discussed. Chroni...

  • Article
  • Open Access
1,768 Views
11 Pages

Low Serum Uric Acid as an Independent Predictor of Mortality and Poor Prognosis: A Retrospective Cohort Study

  • Seher İrem Şahin,
  • Ece Çiftçi Öztürk,
  • Hüseyin Öztürk,
  • Büşra Çetintulum Aydın,
  • Fatma Pınar Ziyadanoğlu Cezairli,
  • Emre Hoca and
  • Hayriye Esra Ataoğlu

27 September 2025

Background: While hyperuricemia has been widely studied in cardiovascular and renal diseases, the prognostic impact of low serum uric acid (UA) remains unclear. Emerging evidence suggests hypouricemia may be linked to increased mortality and adverse...

  • Review
  • Open Access
19 Citations
6,805 Views
22 Pages

Modulation of Urate Transport by Drugs

  • Péter Tátrai,
  • Franciska Erdő,
  • Gabriella Dörnyei and
  • Péter Krajcsi

Background: Serum urate (SU) levels in primates are extraordinarily high among mammals. Urate is a Janus-faced molecule that acts physiologically as a protective antioxidant but provokes inflammation and gout when it precipitates at high concentratio...

  • Review
  • Open Access
18 Citations
6,663 Views
17 Pages

Dysuricemia

  • Akiyoshi Nakayama,
  • Masafumi Kurajoh,
  • Yu Toyoda,
  • Tappei Takada,
  • Kimiyoshi Ichida and
  • Hirotaka Matsuo

28 November 2023

Gout results from elevated serum urate (SU) levels, or hyperuricemia, and is a globally widespread and increasingly burdensome disease. Recent studies have illuminated the pathophysiology of gout/hyperuricemia and its epidemiology, diagnosis, treatme...

  • Communication
  • Open Access
5 Citations
2,933 Views
7 Pages

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

  • Aleksandra Jezela-Stanek,
  • Witold Blaz,
  • Artur Gora,
  • Malgorzata Bochenska,
  • Katarzyna Kusmierska and
  • Jolanta Sykut-Cegielska

14 October 2020

(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary su...

  • Case Report
  • Open Access
1 Citations
1,639 Views
17 Pages

Acute Kidney Injury and Chronic Kidney Disease Associated with a Genetic Defect: A Report of Two Cases

  • Irina Zdravkova,
  • Eduard Tilkiyan,
  • Hristo Ivanov,
  • Atanas Lambrev,
  • Violeta Dzhongarova,
  • Gergana Kraleva and
  • Boris Kirilov

Rhabdomyolysis is one of the leading causes of acute kidney injury (AKI) and is infrequently associated with chronic kidney disease (CKD). CKD appears in diabetes mellitus and arterial hypertension, as a result of other systemic diseases and glomerul...

  • Review
  • Open Access
23 Citations
6,235 Views
16 Pages

20 November 2021

Xanthine oxidoreductase (XOR) is an enzyme that catalyzes the two-step reaction from hypoxanthine to xanthine and from xanthine to uric acid in purine metabolism. XOR generally carries dehydrogenase activity (XDH) but is converted into an oxidase (XO...

  • Systematic Review
  • Open Access
14 Citations
3,460 Views
8 Pages

Kidney Tubular Damage Secondary to Deferasirox: Systematic Literature Review

  • Martin Scoglio,
  • Maria Domenica Cappellini,
  • Emanuela D’Angelo,
  • Mario G. Bianchetti,
  • Sebastiano A. G. Lava,
  • Carlo Agostoni and
  • Gregorio P. Milani

1 December 2021

Deferasirox is a first-line therapy for iron overload that can sometimes cause kidney damage. To better define the pattern of tubular damage, a systematic literature review was conducted on the United States National Library of Medicine, Excerpta Med...

  • Review
  • Open Access
132 Citations
10,714 Views
13 Pages

Uric Acid and Cognitive Function in Older Individuals

  • Claudio Tana,
  • Andrea Ticinesi,
  • Beatrice Prati,
  • Antonio Nouvenne and
  • Tiziana Meschi

27 July 2018

Hyperuricemia has been recognized as an independent cardiovascular risk factor in epidemiological studies. However, uric acid can also exert beneficial functions due to its antioxidant properties, which may be particularly relevant in the context of...

  • Review
  • Open Access
13 Citations
5,490 Views
9 Pages

Electrolyte and Acid-Base Disorders Triggered by Aminoglycoside or Colistin Therapy: A Systematic Review

  • Martin Scoglio,
  • Gabriel Bronz,
  • Pietro O. Rinoldi,
  • Pietro B. Faré,
  • Céline Betti,
  • Mario G. Bianchetti,
  • Giacomo D. Simonetti,
  • Viola Gennaro,
  • Samuele Renzi and
  • Sebastiano A. G. Lava
  • + 1 author

Aminoglycoside or colistin therapy may alter the renal tubular function without decreasing the glomerular filtration rate. This association has never been extensively investigated. We conducted a systematic review of the literature following the Pref...

  • Case Report
  • Open Access
1,103 Views
15 Pages

Two Cases of Chronic Tubular Necrosis Presenting as Fanconi Syndrome Induced by Red Yeast Rice Choleste-Help

  • Kanako Mita,
  • Shunsuke Takahashi,
  • Satoshi Yanagida,
  • Akihiro Aoyama,
  • Takayuki Shiraishi,
  • Takayuki Hamada,
  • Yumiko Nakamura,
  • Mariko Sato,
  • Kento Hirose and
  • Ryo Yamamoto
  • + 6 authors

Background and Clinical Significance: Although dietary supplements have often been deemed safe, some have been linked to drug-induced nephropathy due to their diverse ingredients. The aim of this report is to enhance clinical awareness of a novel and...

  • Article
  • Open Access
27 Citations
4,556 Views
10 Pages

Association of Serum Uric Acid with Cardiovascular Disease Risk Scores in Koreans

  • Seung Yun Lee,
  • Won Park,
  • Young Ju Suh,
  • Mie Jin Lim,
  • Seong-Ryul Kwon,
  • Joo-Hyun Lee,
  • Young Bin Joo,
  • Youn-Kyung Oh and
  • Kyong-Hee Jung

As the prevalence of gout and hyperuricemia increases, the comorbidities of gout and hyperuricemia have become a public health burden. In particular, risks of cardiovascular disease (CVD)-related complications are increasing. However, a few guideline...

  • Article
  • Open Access
50 Citations
6,267 Views
14 Pages

The Optimal Range of Serum Uric Acid for Cardiometabolic Diseases: A 5-Year Japanese Cohort Study

  • Masanari Kuwabara,
  • Ichiro Hisatome,
  • Koichiro Niwa,
  • Petter Bjornstad,
  • Carlos A. Roncal-Jimenez,
  • Ana Andres-Hernando,
  • Mehmet Kanbay,
  • Richard J. Johnson and
  • Miguel A. Lanaspa

30 March 2020

The optimal range of serum uric acid (urate) associated with the lowest risk for developing cardiometabolic diseases is unknown in a generally healthy population. This 5-year cohort study is designed to identify the optimal range of serum urate. The...

  • Article
  • Open Access
2 Citations
2,549 Views
12 Pages

Low Serum Uric Acid Predicts Risk of a Composite Disease Endpoint

  • Fatma Özpamuk-Karadeniz,
  • Yusuf Karadeniz,
  • Adnan Kaya,
  • Servet Altay,
  • Günay Can and
  • Altan Onat

8 April 2021

Background and objectives: Mortality may increase in hypouricemia as well as inhyperuricemia. We assessed the predictive value of low serum uric acid (SUA) levels on the risk of overall mortality or a composite endpoint of death and nonfatal events....