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Ichida K, Matsuo H, Takada T, Nakayama A, Murakami K, Shimizu T, Yamanashi Y, Kasuga H, Nakashima H, Nakamura T, Takada Y, Kawamura Y, Inoue H, Okada C, Utsumi Y, Ikebuchi Y, Ito K, Nakamura M, Shinohara Y, Hosoyamada M, Sakurai Y, Shinomiya N, Hosoya T, Suzuki H (2002) Decreased extra-renal urate excretion is a common cause of hyperuricemia. Nat Commun 3:764
Matsuo H, Ichida K, Takada T, Nakayama A, Nakashima H, Nakamura T, Kawamura Y, Takada Y, Yamamoto K, Inoue H, Oikawa Y, Naito M, Hishida A, Wakai K, Okada C, Shimizu S, Sakiyama M, Chiba T, Ogata H, Niwa K, Hosoyamada M, Mori A, Hamajima N, Suzuki H, Kanai Y, Sakurai Y, Hosoya T, Shimizu T, Shinomiya N (2013) Common dysfunctional variants in ABCG2 are a major cause of early-onset gout. Sci Rep 3:2014
Higashino T, Takada T, Nakaoka H, Toyoda Y, Stiburkova B, Miyata H, Ikebuchi Y, Nakashima H, Shimizu S, Kawaguchi M, Sakiyama M, Nakayama A, Akashi A, Tanahashi Y, Kawamura Y, Nakamura T, Wakai K, Okada R, Yamamoto K, Hosomichi K, Hosoya T, Ichida K, Ooyama H, Suzuki H, Inoue I, Merriman TR, Shinomiya N, Matsuo H (2017) Multiple common and rare variants of ABCG2 cause gout. RMD Open 3:e000464
Stiburkova B, Pavelcova K, Zavada J, Petru L, Simek P, Cepek P, Pavlikova M, Matsuo H, Merriman TR, Pavelka K (2017) Functional non-synonymous variants of ABCG2 and gout risk. Rheumatology (Oxford) 56:1982–1992
Toyoda Y, Mančíková A, Krylov V, Morimoto K, Pavelcová K, Bohatá J, Pavelka K, Pavlíková M, Suzuki H, Matsuo H, Takada T, Stiburkova B (2019) Functional characterization of clinically-relevant rare variants in ABCG2 identified in a gout and hyperuricemia cohort. Cells 8(4). https://doi.org/10.3390/cells8040363
Woodward OM, Tukaye DN, Cui J, Greenwell P, Constantoulakis LM, Parker BS, Rao A, Kottgen M, Maloney PC, Guggino WB (2013) Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules. Proc Natl Acad Sci U S A 110:5223–5228
Major TJ, Dalbeth N, Stahl EA, Merriman TR (2018) An update on the genetics of hyperuricaemia and gout. Nat Rev Rheumatol 14:351–353
Stiburkova B, Pavelcova K, Pavlikova M, Ješina P, Pavelka K (2019) The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients. Arthritis Res Ther 21:77
Safar Z, Kis E, Erdo F, Zolnerciks JK, Krajcsi P (2019) ABCG2/BCRP: variants, transporter interaction profile of substrates and inhibitors. Expert Opin Drug Metab Toxicol 15:313–328
Roberts RL, Wallace MC, Phipps-Green AJ, Topless R, Drake JM, Tan P, Dalbeth N, Merriman TR, Stamp LK (2016) ABCG2 loss-of-function polymorphism predicts poor response to allopurinol in patients with gout. Pharmacogenomics J 17:201–203
Saison C, Helias V, Ballif BA, Peyrard T, Puy H, Miyazaki T, Perrot S, Vayssier-Taussat M, Waldner M, Le Pennec PY, Cartron JP, Arnaud L (2012) Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior. Nat Genet 44:174–177
Voruganti VS, Laston S, Haack K, Mehta NR, Cole SA, Butte NF, Comuzzie AG (2015) Serum uric acid concentrations and SLC2A9 genetic variation in Hispanic children: the Viva La Familia study. Am J Clin Nutr 101:725–732
Hurba O, Mancikova A, Krylov V, Pavlikova M, Pavelka K, Stibůrková B (2014) Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout. PLoS One 9:e107902
Nakayama A, Matsuo H, Nakaoka H, Nakamura T, Nakashima H, Takada Y, Oikawa Y, Takada T, Sakiyama M, Shimizu S, Kawamura Y, Chiba T, Abe J, Wakai K, Kawai S, Okada R, Tamura T, Shichijo Y, Akashi A, Suzuki H, Hosoya T, Sakurai Y, Ichida K, Shinomiya N (2014) Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors. Sci Rep 4:5227
Matsuo H, Tsunoda T, Ooyama K, Sakiyama M, Sogo T, Takada T, Nakashima A, Nakayama A, Kawaguchi M, Higashino T, Wakai K, Ooyama H, Hokari R, Suzuki H, Ichida K, Inui A, Fujimori S, Shinomiya N (2016) Hyperuricemia in acute gastroenteritis is caused by decreased urate excretion via ABCG2. Sci Rep 6:31003
Adler R, Robinson R, Pazdral P, Grushkin C (1982) Hyperuricemia in diarrheal dehydration. Am J Dis Child 136:211–213
We would like to thank post-graduate students Katerina Pavelcova and Jana Bohata (Institute of Rheumatology, First Faculty of Medicine) for their assistance with sequencing analysis.
This work was supported by grants from the Czech Ministry of Health AZV 15-26693 A and the projects for conceptual development of research organization 00023728 (Institute of Rheumatology), RVO VFN64165.
All tests were performed in accordance with standards set by the institutional ethics committees (no. 6181/2015).
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This refers to the article that can be found at https://doi.org/10.1007/s00467-020-04491-w.
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Doležel, Z., Ješina, P. & Stiburkova, B. Severe hyperuricemia in two children with acute gastroenteritis: answers. Pediatr Nephrol 35, 1431–1435 (2020). https://doi.org/10.1007/s00467-020-04493-8