• Title/Summary/Keyword: URAT1

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A Case of Idiopathic Renal Hypouricemia with URAT1 Gene Mutation who Showed Persistent Orange-colored Urine (지속적인 주황색 소변을 보인 URAT1 유전자 변이 신성 저요산혈증 1례)

  • Lee Joo-Hoon;Choi Jin-Ho;Yoo Han-Wook;Jeong Jin-Young;Park Young-Seo
    • Childhood Kidney Diseases
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    • v.10 no.1
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    • pp.65-71
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    • 2006
  • Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. Most patients with hypouricemia are asymptomatic and are found incidentally, but the condition is known to be at high risk for exercise-induced acute renal failure or urolithiasis. URAT1 protein encoded by SLC22A12 gene has been identified recently as a urate/anion exchanger in the human kidney. Inactivation mutations in SLC22A12 gene have been shown to cause renal idiopathic hypouricemia. We experienced a 3-year-old boy who presented with persistent orange-colored urine since infancy. His urine contained many uric acid crystals, while the serum showed hypouricemia(0.7 mg/dL). The fractional excretion of uric acid was increased to 41.7%. SLC22a12 gene analysis revealed W258X homozygote alleles. Renal hypouricemia must be included in the differential diagnosis of red-urine and SLC22A12 gene analysis is recommended in idiopathic renal hypouricemia.

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Saengmaeksan, a traditional herbal formulation consisting of Panax ginseng, ameliorates hyperuricemia by inhibiting xanthine oxidase activity and enhancing urate excretion in rats

  • Sung, Yoon-Young;Yuk, Heung Joo;Kim, Dong-Seon
    • Journal of Ginseng Research
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    • v.45 no.5
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    • pp.565-574
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    • 2021
  • Background: Saengmaeksan (SMS) is a traditional Korean medicine composed of three herbs, Panax ginseng, Schisandra chinensis, and Liriope platyphylla. SMS is used to treat respiratory and cardiovascular disorders. However, whether SMS exerts antihyperuricemic effects is unknown. Methods: Effects of the SMS extract in water (SMS-W) and 30% ethanol (SMS-E) were studied in a rat model of potassium oxonate-induced hyperuricemia. Uric acid concentrations and xanthine oxidase (XO) activities were evaluated in the serum, urine, and hepatic tissue. Using renal histopathology to assess kidney function and uric acid excretion, we investigated serum creatinine and blood urea nitrogen concentrations, as well as protein levels of renal urate transporter 1 (URAT1), glucose transporter 9 (GLUT9), and organic anion transporter 1 (OAT1). The effects of SMS on in vitro XO activity and uric acid uptake were also evaluated. The components of SMS were identified using Ultra Performance Liquid Chromatography (UPLC). Results: SMS-E reduced serum uric acid and creatinine concentrations, and elevated urine uric acid excretion. SMS-E lowered XO activities in both the serum and liver, and downregulated the expression of renal URAT1 and GLUT9 proteins. SMS-E reduced renal inflammation and IL-1b levels in both the serum and kidneys. SMS-E inhibited both in vitro XO activity and urate uptake in URAT1-expressing oocytes. Using UPLC, 25 ginsenosides were identified, all of which were present in higher levels in SMS-E than in SMS-W. Conclusion: SMS-E exhibited antihyperuricemic effects by regulating XO activity and renal urate transporters, providing the first evidence of its applicability in the treatment of hyperuricemia and gout.

A case of idiopathic renal hypouricemia (신성 저요산혈증 1례)

  • Han, Moon Hee;Park, Sang Uk;Kim, Deok-Soo;Shim, Jae Won;Shim, Jung Yeon;Jung, Hye Lym;Park, Moon Soo
    • Clinical and Experimental Pediatrics
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    • v.50 no.5
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    • pp.489-492
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    • 2007
  • Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal hypouricemia. He was diagnosed with transient pseudohypoaldosteronism at admission, but hypouricemia was accidentally found through follow-up study. By gene analysis, his diagnosis was confirmed to idiopathic renal hypouricemia. In addition, we report a mutation in the human urate transporter 1 (hURAT1) gene identified in his family.

A Case of Idiopathic Renal Hypouricemia with SLC22A12 Gene Mutation Showing General Weakness and Incidental Renal Stone

  • Joung, Jin Woon;Song, Young Wha;Kim, Jong Dae;Cheon, Eun Jung
    • Childhood Kidney Diseases
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    • v.25 no.1
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    • pp.44-48
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    • 2021
  • Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion exchanger (URAT1). The majority of iRHUC patients are asymptomatic, especially during childhood, and thus many cases go undiagnosed or they are diagnosed late in older age with complications of hematuria, renal stones, or acute kidney injury (AKI). We report a case of a 7-year-old boy with subtle symptoms such as general weakness and dizziness and revealed hypouricemia and incidental nephrolithiasis. Homozygous mutations were detected in the SLC22A12 (c.774G>A) by molecular analysis. The present case suggests that fractional excretion of uric acid (FEUA) screening could be better followed by the coincidental discovery of hypouricemia, to prevent conflicting complications of iRHUC, even with normal urine uric acid to creatinine ratio (UUA/UCr), and sequential genetic analysis if needed.

Development of High-specificity Antibodies against Renal Urate Transporters Using Genetic Immunization

  • Xu, Guoshuang;Chen, Xiangmei;Wu, Di;Shi, Suozhu;Wang, Jianzhong;Ding, Rui;Hong, Quan;Feng, Zhe;Lin, Shupeng;Lu, Yang
    • BMB Reports
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    • v.39 no.6
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    • pp.696-702
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    • 2006
  • Recently three proteins, playing central roles in the bidirectional transport of urate in renal proximal tubules, were identified: two members of the organic anion transporter (OAT) family, OAT1 and OAT3, and a protein that designated renal urate-anion exchanger (URAT1). Antibodies against these transporters are very important for investigating their expressions and functions. With the cytokine gene as a molecular adjuvant, genetic immunization-based antibody production offers several advantages including high specificity and high recognition to the native protein compared with current methods. We fused high antigenicity fragments of the three transporters to the plasmids pBQAP-TT containing T-cell epitopes and flanking regions from tetanus toxin, respectively. Gene gun immunization with these recombinant plasmids and two other adjuvant plasmids, which express granulocyte/macrophage colony-stimulating factor and FMS-like tyrosine kinase 3 ligand, induced high level immunoglobulin G antibodies, respectively. The native corresponding proteins of URAT1, OAT1 and OAT3, in human kidney can be recognized by their specific antibodies, respectively, with Western blot analysis and immunohistochemistry. Besides, URAT1 expression in Xenopus oocytes can also be recognized by its corresponding antibody with immuno-fluorescence. The successful production of the antibodies has provided an important tool for the study of UA transporters.

A study on the receiving rate of the data of the hybrid communication system using data transfer methods for controller system of navigational aids (데이터 전송방식에 따른 항로표지 관리용 하이브리드 통신 시스템의 수신율 분석에 관한 연구)

  • Jeon, Joong Sung
    • Journal of Advanced Marine Engineering and Technology
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    • v.38 no.1
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    • pp.78-85
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    • 2014
  • The Mu-communication board supported by hybrid communication is designed with Cortex M3, which is a low power energy consumption 32-bit microcontroller. The Cortex M3 microcontroller has UART(Universal asynchronous receiver/transmitter) ports which can set appropriately using the command line interpreter (CLI) program with each port. URAT ports are used for hybrid communication modems, GPS modules, etc. When the socket type was compared with the short message service type, the socket type was proven to be better. By improving the receiving performance in the control and management system of the AtoN, data loss was minimized. During the testing of the socket and SMS, data was collected from each buoy for 12 hours every 1 minute and the receiving rate of the data was found to be more than 98.58 % and 99.42 % respectively.

A Study on the Tele-controller System of Navigational Aids Using Hybrid Communication (하이브리드 통신을 이용한 항로표지의 원격관리 제어시스템에 관한 연구)

  • Jeon, Joong-Sung;Oh, Jin-Seok
    • Journal of Advanced Marine Engineering and Technology
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    • v.35 no.6
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    • pp.842-848
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    • 2011
  • A fabricated hybrid control board using multi-communication is designed with a low power 8-bit microcontroller, ATxmega128A1. The microcontroller consists of 8 UART (Universal asynchronous receiver/transmitter) ports, 2 kbytes EEPROM, 128 kbytes flash memory, 8 kbytes SRAM. The 8 URAT ports are used for a multi-communication modem, a GPS module, etc. The EEPROM is used for saving a configuration for running programs, and the flash memory of 128 kbytes is used for storing a F/W (Firm Ware), and the 8 kbytes SRAM is used for stack and for storing memory of global variables while running programs. If we use the multi-communication of CDMA, TRS and RF to remotely control Aid to Navigation, it is able to remove the communication shadow area. Even though there is a shadow area for an individual communication method, we can select an optimal communication method. The compatibility of data has been enhanced as using of same data frame per communication device. For the test, 8640 of data have been collected from each buoy during 30 days in every 5 minutes and the receiving rate of the data has shown more than 85 %.

Hyperuricemic effects of Alpiniae Oxyphyllae Fructus extracts (고요산동물에서의 익지인의 요산저하 효과)

  • Lee, Young-Sil;Kim, Jiyoun;Kim, Seung-Hyung;Kim, Dong-Seon
    • The Korea Journal of Herbology
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    • v.32 no.6
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    • pp.23-29
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    • 2017
  • Objective : Hyperuricemia is a metabolic disease characterized by elevated blood uric acid levels, and its prevalence is rapidly increasing worldwide. Alpiniae Oxyphyllae Fructus (AO) belonging to Zingiberaceae is one of well-known traditional medicines in China and Korea, and has been used to treat intestinal disorders, urosis, diuresis, and chronic glomerulonephritis traditionally. However, the effect of AO has not been studied. In this study we investigated the anti-hyperuricemic effect of AO, and the mechanisms underlying the effect in potassium oxonate (PO)-induced hyperuricemic rats. Methods : To examine the anti-hyperuricemic effects of the AO extract, serum uric acid levels were analyzed in normal and PO-induced hyperuricemic rats. The mechanism underlying the effects of the AO extract on uric acid levels was studied through xanthine oxidase (XOD) activity test and uric acid uptake assay in vitro. The chemical finger printing of the AO extract was analyzed using HPLC-DAD. Results : The AO extract significantly reduced serum uric acid levels in normal as well as PO-induced hyperuricemic rats. It also significantly inhibited the uptake of uric acid in oocytyes and human embryonic kidney cells (HEK293) expressing urate transporter (URAT)1, but not XOD activity in vitro. The chemical finger printing analysis of the AO extract showed nootkatone as a main component. Conclusion : The AO extract exhibits anti-hyperuricemic effects, and these effect were accompanied by increasing excretion of uric acid in kidney. Therefore, the AO extract could be used for prevention or treatment of hyperuicemia and gout.

A study on the hybrid communication system to remove the communication shadow area for controller system of navigational aids (전파 음영지역 해소를 위한 항로표지관리용 하이브리드 통신 시스템에 관한 연구)

  • Jeon, Joong Sung
    • Journal of Advanced Marine Engineering and Technology
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    • v.37 no.4
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    • pp.409-417
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    • 2013
  • Mu-communication board supported by multi-communication is designed with Atxmega 128A1 which is a low power energy consuming of 8-bit microcontroller. ATxmega128A1 microcontroller consists of 8 UART(Universal asynchronous receiver/transmitter) ports which can be setting appropriate user interface having command line interpreter(CLI) program with each port, 2 kbytes EEPROM, 128 kbytes flash memory, 8 kbytes SRAM. 8 URAT ports are used for the multi communication modem, GPS module, etc. and EEPROM is used for saving a configuration for program running, and flash memory of 128 kbytes is used for storing a Firm Ware, and 8 kbytes SRAM is used for stack, storing memory of global variables while program running. If we uses the hybrid communication of path optimization of VHF, TRS and CDMA to remote control AtoN(aid to navigation), it is able to remove the communication shadow area. Even though there is a shadow area for individual communication method, we can select an optimum communication method. The compatibility of data has been enhanced as using of same data frame per communication devices. For the test, 8640 of data has been collected from the each buoy during 30 days in every 5 minutes and the receiving rate of the data has shown more than 99.4 %.