Genetic diseases

作者：T. Inazu, T. Kawahara, H. Endou, N. Anzai, I. Sebesta, Blanka Stibůrková, K. Ichida, M. Hosoyamada, A. Testa, A. Testa, D. Leonardis, F. Catalano, A. Pisano, A. Mafrica, B. Spoto, Maria Cristina Sanguedolce, R. M. Parlongo, G. Tripepi, M. Postorino, G. Enia, Carmine Zoccali, F. Mallamaci, M. Working Group, Augusto Luque de Pablos, V. Garcia-Nieto, J. C. Lopez-Menchero, E. Ramos-Trujillo, H. Gonzalez-Acosta, F. Claverie-Martin, M. Arsali, P. Demosthenous, L. Papazachariou, Y. Athanasiou, K. Voskarides, C. Deltas, A. Pierides, Sang Won Lee, K. H. Jeong, C. Ihm, T. W. Lee, S. H. Lee, Jung Yoon Moon, Jeffrey Wi, H. J. Lee, E. Y. Kim, K. Rogacev, A. Friedrich, B. Hummel, J. Berg, A. Zawada, D. Fliser, J. Geisel, Gunnar H. Heine, I. Brabcova, I. Brabcova, S. Dusilova-Sulkova, S. Dusilova-Sulkova, Z. Krejcik, V. Stranecky, K. Lipar, T. Marada, J. Stepankova, O. Viklicky, M. Buraczynska, P. Zukowski, W. Zaluska, A. Kuczmaszewska, A. Ksiazek, M. Gaggl, S. Weidner, Marion Höfer, J. Kleinert, G. Fauler, M. Wallner, P. Kotanko, G. Sunder-Plassmann, E. Paschke, R. Heguilen, R. Heguilen, L. Albarracin, J. Politei, A. A. Liste, A. Bernasconi, E. Kusano, R. Russo, A. Pisani, G. Messalli, M. Imbriaco, Larisa Prikhodina, O. Ryzhkova, V. Polyakov, K. Lipkowska, D. Ostalska-Nowicka, M. Smiech, M. Jaroniec, K. Zaorska, W. Szaflarski, M. Nowicki, J. Zachwieja, B. Spoto, B. Spoto, A. Testa, Maria Cristina Sanguedolce, G. D'arrigo, R. M. Parlongo, A. Pisano, G. Tripepi, Carmine Zoccali, F. Mallamaci, J. Moskowitz, S. Piret, A. Tashman, E. Velez, K. Lhotta, R. Thakker, P. Kotanko, J. Cox, J. Kingswood, J. Mbundi, G. Attard, U. Patel, A. Saggar, F. Elmslie, T. Doyle, A. Jansen, S. Jozwiak, E. Belousova, Maria Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, J. Ford, Ganesh Shah, D. Franz, B. Zonnenberg, W. Cheung, S. Urva, J. Wang, Maria Frost, C. Kingswood, K. Budde, T. Kofman, C. Narjoz, Q. Raimbourg, M. Roland, M.-A. Loriot, A. Karras, G. S. Hill, C. Jacquot, D. Nochy, E. Thervet, P. Jagodzinski, M. Mostowska, A. Oko, N. Nicolaou, S. Kevelam, M. Lilien, M. Oosterveld, R. Goldschmeding, Albertien Van Eerde, R. Pfundt, A. Sonnenberg, P. Ter Hal, N. Knoers, K. Renkema, T.B. Storm, RUTH NIELSEN, E. Christensen, C. Frykholm, L. Tranebjaerg, H. Birn, P. Verroust, T. Neveus, B. Sundelin, J. M. Hertz, G. Holmstrom, K. Ericson, A. Fabris, D. Cremasco, A. Zambon, E. Muraro, M. Alessi, A. D'angelo, F. Anglani, D. Del Prete, A. Alkmim Teixeira, B. M. Quinto, C. Jose Rodrigues, A. Beltrame Ribeiro, Maria Clara Santini Batista, A. Kerti, A. Kerti, R. Csohany, A. Szabo, O. Arkossy, P. Sallai, V. Moriniere, V. Vega-Warner, O. Lakatos, T. Szabo, György Reusz, K. Tory, M. Addis, F. Anglani, E. Tosetto, C. Meloni, M. Ceol, R. Cristofaro, M. A. Melis, P. Vercelloni, A. D'angelo, G. Marra, S. Kaniuka, M. Nagel, W. Wolyniec, L. Obolonczyk, R. Swiatkowska-Stodulska, K. Sworczak, B. Rutkowski, C. Chen, L. Jiang, L. Chen, Lyugui Fang, M. Mozes M., M. Boo'Si, L. Rosivall, G. Kokeny, R. Diana, O. Gross, T. Johanna, G. Rainer, C. Ayse, H. Henrik, M. Gerhard-Anton, Moatassim Billah Nabil, E. Intissar, H. Belge, H. Belge, J. Bloch, K. Dahan, Y. Pirson, P. Vanhille, N. Demoulin · 发表于：Nephrology Dialysis Transplantation · 年份：2012 · DOI：10.1093/ndt/gfs232 · 被引用次数：2 · 研究领域：Digestive system and related health、Genomics and Rare Diseases

Introduction and Aims: Hypouricemia, defined as low levels of serum urate (less than 2.0 mg/dl), is common in the general population (0.5%-4%). Although the majority of cases with idiopathic renal hypouricemia have been reported in Japanese, it is a rare disorder with an incidence of 0.15% in Japan. Patients with idiopathic renal hypouricemia were found to have defects in a gene (SLC22A12) encoding for human urate transporter 1 (hURAT1). We report Japanese patients with renal hypouricemia. Methods: 1. Five probands with idiopathic renal hypouricemia were investigated. Genomic DNA was extracted from peripheral blood cells. All exons and exon-intron boundaries of hURAT1 gene were analysed by polymerase chain reaction (PCR) and direct sequencing. 2. The rapid method for detecting mutation by PCR-restriction fragment length polymorphism (PCR-RFLP) was developed. 3. Functional analysis of hURAT1 mutant was examined. Results: 1. The serum urate levels in probands were between 0.5 and 1.2 mg/dl. 2. Urolithiasis and exercise—induced acute renal failure are relatively common complications in renal hypouricemia. However, most patients in this study were clinically unrecognizable. 3. We found five mutations in hURAT1 gene, which were W258X, Q297X, Q382L, 1639-1643delGTCCT, and a novel P45L. 4. We developed the rapid method for detecting a novel mutation by PCR-RFLP, respectively. 5. Functional analysis of mutant hURAT1 revealed th...