Familial Juvenile Hyperuricemic Nephropathy

KidneySeq™: A Comprehensive Inherited Kidney Disease Panel
KidneySeq™: A Comprehensive Inherited Kidney Disease Panel Iowa Institute of Human Genetics Roy J. and Lucille A. Carver College of Medicine Familial juvenile hyperuricemic nephropathy . UMOD, MUC1 . Fraser syndrome . FRAS1, FREM2, GRIP1 . Isolated renal hypoplasia . ... Access Content

Type Of Uromodulin Mutation And Allelic Status Influence Onset ...
#603860), familial juvenile hyperuricemic nephropathy (FJHN; OMIM #162000) and glomerulocystic kidney disease (GCKD; OMIM #609886). To date, more than 70 distinct UAKD-causingUMODmutationsareknown(3–5).Theclinic-al manifestations of UAKD are hypouricosuric hyperuricemia, ... Doc Viewer

Uromodulin Glycoprotein ELISA - Mdbioproducts.com
Uromodulin Glycoprotein ELISA Catalog Number M036020 For the quantitative determination of Uromodulin Glycoprotein with human diseases such as familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney ... Fetch Document

Subject Index - Karger.com
Familial juvenile hyperuricemic nephropathy (FJHN) gene mutations 32 hyperuricemia 31, 32 Fenofibrate, hyperuricemia management 18 Downloaded by: 198.143.46.33 - 1/3/2016 11:05:40 PM. Glycogenosis hyperuricemia clinical characteristics 30 molecular features 31 ... Access Full Source

Tamm-Horsfall Glycoprotein ELISA
Tamm-Horsfall Glycoprotein ELISA Catalog Number M036020 For the quantitative determination of Tamm-Horsfall Glycoprotein (THP, Defects in THP are associated with human diseases such as familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD2) (4, 5). ... Read Content

Genetic Disorders Resulting In Hyper- Or Hypouricemia
Genetic Disorders Resulting in Hyper- or Hypouricemia Ivan Sebesta Familial juvenile hyperuricemic nephropathy is an autosomal dominantly inherited disorder caused by mu-tations in the UMOD gene encoding uromodulin (Tamm–Horsfall protein). ... View This Document

Review What Lies Behind Serum Urate Concentration? Insights ...
Overactivity, familial juvenile hyperuricemic nephropathy What lies behind serum urate concentration? Insights from genetic and genomic studies Kimiyoshi Ichida OMIM: Hyperuricemic nephropathy, familial juvenile 1; HNFJ1 ... Read Content

Allelism Of MCKD, FJHN And GCKD Caused By Impairment Of ...
Impairment of uromodulin export dynamics Luca Rampoldi1, Gianluca Caridi2, Daniela Santon3, Francesca Boaretto3, Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease? ... Retrieve Here

Familial Hypocalciuric Hypercalcemia - Wikipedia, The Free ...
Familial hypocalciuric hypercalcemia is a condition that can cause hypercalcemia, Juvenile/HFE2; HFE3; African iron overload/HFE4; Aceruloplasminemia; Atransferrinemia; Hemosiderosis; deficiency: Iron deficiency; Cu: high: Copper toxicity; Wilson's disease; ... Read Article

UMOD Kidney Diseases KDIGO 2014
Two Rare Disorders: FJHN and MCKD2 Familial juvenileFamilial juvenile hyperuricemic nephropathy (FJHN MIM 162000)FJHN, MIM 162000) is a rare autosomal dominant condition characterized by abnormal tubular ... Retrieve Document

Oxford Molecular Genetics Laboratory
Oxford Molecular Genetics Laboratory Contact Details: Duty Scientist Oxford Regional Molecular Genetics Laboratory, Churchill Hospital, Old Road, Headington, Familial Juvenile Hyperuricemic Nephropathy (FJHN) & Medullary Cystic Disease Type 2 ... Access This Document

MolecularandCellularEffectsofTamm-HorsfallProtein ...
MolecularandCellularEffectsofTamm-HorsfallProtein tations cause familial juvenile hyperuricemic nephropathy. J. Clin. Endo-crinol. Metab. 88, 1398–1401 45. Delisle, B. P., Anderson, C. L., Balijepalli, R. C., Anson, B. D., Kamp, T. J., ... Access Doc

25th European Congress Pathology August-September 2013 Lisbon
25th European Congress Pathology August-September 2013 Lisbon Slide Seminar 5 Differential diagnosis ADPKD Medullary cystic kidney disease / Familial juvenile hyperuricemic nephropathy Case presentation - 6 A kidney biopsy was performed Case presentation - 7 LM ... View This Document

The Prevalence And Epidemiology Of Genetic Renal Disease ...
The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia Andrew Mallett1,2,3*, disease, familial juvenile hyperuricemic nephropathy and UMOD nephropathy), tuberous sclerosis complex (TSC), ... View Document

Tamm-Horsfall Protein Protects Against Urinary Tract ...
Tamm-Horsfall Protein Protects Against Urinary Tract Infection by Proteus Mirabilis Hajamohideen S. Raffi, kidney disease/familial juvenile hyperuricemic nephropathy MR thrally into the bladder of Tamm-Horsfall protein deficient (THPmannose resistant ... Fetch Full Source

A New Gene For Hereditary Tubulo Interstitial Nephropathies
HTIN: How many diseases? How many genes? « Adult » Nephronophtisis NPH Familial Juvenile Hyperuricemic Nephropathy FJHN ... Read Here

Gout - Wikipedia
Asam urat; Classification and external resources: Gout, a 1799 caricature by James Gillray: ICD-10: ICD-10 Chapter M|M10: ICD-9: 274.00 274.1 274.8 274.9: OMIM ... Read Article

New Insights: Nephronophthisis-medullary Cystic Kidney Disease
Abstract Nephronophthisis (NPH) and medullary cystic kidney disease (MCKD) constitute a group of renal cys-tic diseases, Familial juvenile hyperuricemic nephropathy: local-ization of the gene on chromosome 16p11.2 and evidence for ... Return Document

Tamm-HorsfallGlycoproteinInteractswithRenalOuter ...
Diseases associated with THGP mutations including familial juvenile hyperuricemic nephropathy (FJHN), medullary cystic kidney disease type 2 (MCKD-2) and glomerulocystic kidney disease (GCKD), presenting with renal salt wasting, hyperuri- ... Fetch This Document