title: Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families.
abstract: Hyperuricemia is a common symptom in adult population. It usually accompanies the chronic kidney disease. Less frequently, it is a primary phenomenon causing later serious clinical consequences. Familial juvenile hyperuricemic nephropathy (FJHN) is one of the hereditary conditions associated with high levels of serum uric acid and leading to dialysis in young adult age. It results from mutation in the UMOD gene, encoding the uromodulin protein, that is, Tamm-Horsfall protein. The aim of this paper was to present two families (7 affected members) with FJHN, in whom standard nephrological diagnostics did not provide clear cause of dialysis-dependent chronic kidney disease, until genetic testing was performed.
authors.affiliation: a Department of Pediatrics, Immunology and Nephrology , Polish Mother's Memorial Hospital Research Institute , Lodz , Poland.
authors.forename: Kamila A
authors.initials: KA
authors.lastname: Kaminska-Pajak
authors.affiliation: b Department of Pediatric Nephrology with Dialysis Division , SPSK no 1 , Zabrze , Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Dyga
authors.affiliation: c Chair and Department of Pediatrics , Silesian Medical University , Katowice , Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Adamczyk
authors.affiliation: c Chair and Department of Pediatrics , Silesian Medical University , Katowice , Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Szczepańska
authors.affiliation: d Children's Hospital , Poznań , Poland.
authors.forename: Marcin
authors.initials: M
authors.lastname: Zaniew
authors.affiliation: e Institute of Human Genetics, University of Cologne , Cologne , Poland.
authors.forename: Bodo
authors.initials: B
authors.lastname: Beck
authors.affiliation: a Department of Pediatrics, Immunology and Nephrology , Polish Mother's Memorial Hospital Research Institute , Lodz , Poland.|f IV Chair of Pediatrics, Medical University of Lodz , Lodz , Poland.
authors.forename: Marcin
authors.initials: M
authors.lastname: Tkaczyk
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006073:Gout / Q000235:genetics* / Q000628:therapy; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics* / Q000628:therapy; D007674:Kidney Diseases / Q000235:genetics* / Q000628:therapy; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011044:Poland; D006435:Renal Dialysis; D051436:Renal Insufficiency, Chronic / Q000235:genetics*; D014527:Uric Acid / Q000097:blood*; D058949:Uromodulin / Q000235:genetics*; D055815:Young Adult
chemical_list: C548612:UMOD protein, human; D058949:Uromodulin; D014527:Uric Acid
keywords: Hyperuricemia; children; familial juvenile hyperuricemic nephropathy; uromodulin