| Familial juvenile hyperuricemic nephropathy: report on a new mutation and a pregnancy. | |
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MedLine Citation:
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PMID: 19203555 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease. CASE REPORTS AND RESULTS: A Latvian family suffering from FJHN is described. The father of the family developed ESRD at age 36. His daughter was diagnosed with gout and chronic kidney disease at age 14 years. A renal biopsy revealed tubulointerstitial disease; 2 sons were diagnosed at age 9 and 4 with elevated uric acid levels and reduced fractional uric acid excretion. Urinary uromodulin was normal in the younger boy, but markedly decreased in the 2 other patients. Genetic analysis revealed a previously undescribed D196Y mutation in the UMOD gene. The female patient became pregnant at age 23. During pregnancy serum creatinine decreased from 2.0 to 1.5 mg/dl and blood pressure remained low. Analysis of the baby's umbilical cord blood and a mouth swab showed the presence of the D196Y mutation. Its urinary uromodulin excretion was in the low normal range. CONCLUSION: The uromodulin excretion pattern observed in the investigated family suggests that urinary uromodulin decreases in FJHN from low normal values at childhood to extremely low levels in early adulthood. In addition, this first report on pregnancy in a patient with FJHN shows normal adaptation despite markedly reduced renal function. |
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Authors:
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K Lhotta; A Gehringer; P Jennings; F Kronenberg; C Brezinka; I Andersone; V Strazdins |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical nephrology Volume: 71 ISSN: 0301-0430 ISO Abbreviation: Clin. Nephrol. Publication Date: 2009 Jan |
Date Detail:
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Created Date: 2009-02-10 Completed Date: 2009-03-31 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0364441 Medline TA: Clin Nephrol Country: Germany |
Other Details:
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Languages: eng Pagination: 80-3 Citation Subset: IM |
Affiliation:
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Department of Nephrology and Dialysis, Academic Teaching Hospital Feldkirch, Feldkirch, Austria. Karl.Lhotta@lkhf.at |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Age Factors Child, Preschool Female Humans Hyperuricemia / genetics*, metabolism, therapy Infant, Newborn Kidney Diseases / genetics*, metabolism, therapy Male Mucoproteins / genetics*, metabolism Mutation / genetics* Pedigree Pregnancy Pregnancy Complications / genetics*, metabolism, therapy Pregnancy Outcome Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Mucoproteins; 0/Tamm-Horsfall protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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