Advanced search
Publication Cover
Renal Failure Volume 38, 2016 - Issue 10
Submit an article Journal homepage
1,969
Views
7
CrossRef citations to date
0
Altmetric
Brief Report

Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease—a series of cases in two families

Kamila A. Kaminska-PajakDepartment of Pediatrics, Immunology and Nephrology, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland;
,
Katarzyna DygaDepartment of Pediatric Nephrology with Dialysis Division, SPSK no 1, Zabrze, Poland;
,
Piotr AdamczykChair and Department of Pediatrics, Silesian Medical University, Katowice, Poland;
,
Maria SzczepańskaChair and Department of Pediatrics, Silesian Medical University, Katowice, Poland;
,
Marcin ZaniewChildren’s Hospital, Poznań, Poland;
,
Bodo BeckInstitute of Human Genetics, University of Cologne, Cologne, Poland;
&
Marcin TkaczykDepartment of Pediatrics, Immunology and Nephrology, Polish Mother’s Memorial Hospital Research Institute, Lodz, Poland; ;IV Chair of Pediatrics, Medical University of Lodz, Lodz, PolandCorrespondence[email protected]
 show all
Pages 1759-1762 | Received 11 Mar 2016, Accepted 20 Aug 2016, Published online: 20 Oct 2016

References

  • Zimmermann-Górska I. [Choroby związane z obecnością kryształów]. In: Gajewski P, et al. eds. [Interna Szczeklika], 2014, 1st ed. Warsaw, Poland: Medycyna Praktyczna; 2014:1929–1933.
  • Ryu ES, Kim MJ, Shin HS, et al. Uric acid-induced phenotypic transition of renal tubular cells as a novel mechanism of chronic kidney disease. Am J Physiol Renal Physiol. 2013;304:F471–F480.
  • Iseki K, Ikemiya Y, Inoue T, Iseki C, Kinjo K, Takishita S. Significance of hyperuricemia as a risk factor for developing ESRD in a screened cohort. Am J Kidney Dis. 2004;44:642–650.
  • Kanbay M, Yilmaz MI, Sonmez A, et al. Serum uric acid independently predicts cardiovascular events in advanced nephropathy. Am J Nephrol. 2012;36:324–331.
  • Internet site: http://rarerenal.org/clinician-information/adtkd-clinician-information/
  • Raciborski F, ed. [Występowanie i leczenie dny moczanowej w Polsce. Analiza, wskazania, rekomendacje]. Raport Instytutu Ochrony Zdrowia. Instytut Ochrony Zdrowia, 2015.
  • Alaygut D, Torun-Bayram M, Soylu A, Kasap B, Türkmen M, Kavukçu S. Chronic kidney disease in an adolescent with hyperuricemia: Familial juvenile hyperuricemic nephropathy. Turk J Pediatr. 2013;55:637–640.
  • Lee DH, Kim JK, Oh SE, Noh JW, Lee YK. A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. J Korean Med Sci. 2010;25:1680–1682.
  • Moskowitz JL, Piret SE, Lhotta K, et al. Association between genotype and phenotype in uromodulin-associated kidney disease. Clin J Am Soc Nephrol. 2013;8:1349–1357.
  • Lhotta K, Piret SE, Kramar R, Thakker RV, Sunder-Plassmann G, Kotanko P. Epidemiology of uromodulin-associated kidney disease – results from a nation-wide survey. Nephron Extra. 2012;2:147–158.
  • Levy GD, Rashid N, Niu F, Cheetham TC. Effect of urate-lowering therapies on renal disease progression in patients with hyperuricemia. J Rheumatol. 2014;41:955–962.
  • Fairbanks LD, Cameron JS, Venkat-Raman G, et al. Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM. 2002;95:597–607.
  • Cameron JS, Moro F, Simmonds HA. Gout, uric acid and purine metabolism in paediatric nephrology. Pediatr Nephrol. 1993;7:105–118.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.