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Severe hyperuricemia in two children with acute gastroenteritis: answers

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References

  1. 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

    Article  Google Scholar 

  2. 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

    Article  Google Scholar 

  3. 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

    Article  Google Scholar 

  4. 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

    Article  CAS  Google Scholar 

  5. 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

  6. 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

    Article  CAS  Google Scholar 

  7. Major TJ, Dalbeth N, Stahl EA, Merriman TR (2018) An update on the genetics of hyperuricaemia and gout. Nat Rev Rheumatol 14:351–353

    Article  Google Scholar 

  8. 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

    Article  Google Scholar 

  9. 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

    Article  CAS  Google Scholar 

  10. 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

    Article  Google Scholar 

  11. 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

    Article  CAS  Google Scholar 

  12. 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

    Article  CAS  Google Scholar 

  13. 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

    Article  Google Scholar 

  14. 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

    Article  CAS  Google Scholar 

  15. 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

    Article  CAS  Google Scholar 

  16. Adler R, Robinson R, Pazdral P, Grushkin C (1982) Hyperuricemia in diarrheal dehydration. Am J Dis Child 136:211–213

    CAS  PubMed  Google Scholar 

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Acknowledgments

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.

Funding

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.

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Authors and Affiliations

  1. Department of Pediatrics, University Hospital Brno, Medical Faculty of Masaryk University, Brno, Czech Republic

    Zdeněk Doležel

  2. Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

    Pavel Ješina & Blanka Stiburkova

  3. Institute of Rheumatology, Na Slupi 4, 128 50, Prague 2, Czech Republic

    Blanka Stiburkova

Authors
  1. Zdeněk Doležel
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  2. Pavel Ješina
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  3. Blanka Stiburkova
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Corresponding author

Correspondence to Blanka Stiburkova.

Ethics declarations

All tests were performed in accordance with standards set by the institutional ethics committees (no. 6181/2015).

Conflict of interest

The authors declare that they have no conflicts of interest.

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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

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  • DOI: https://doi.org/10.1007/s00467-020-04493-8

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