Juvenile Hyperuricemic Nephropathy

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 ... Get Content Here

Climb National Information Centre For
Updated 20/04/07 Climb National Information Centre for Metabolic Diseases Familial Juvenile Hyperuricaemic Neuropathy Other names that may be used for this disorder are: ... Return Doc

The Turkish Journal Of Pediatrics 2013; 55: 637-640 Case Report
Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy Demet Alaygut, Meral Torun-Bayram, Alper Soylu, Belde Kasap, Mehmet Türkmen, ... Read Document

A Rare Cause Of Chronic Renal Failure In A Girl With Elevated ...
And familial juvenile hyperuricemic nephropathy (FJHN) [1, 2]. Hypoxanthine–guanine phosphoribosyl-transferase deficiency is an X-linked disorder that results in the overproduction of uric acid. The patient’s female gender and the absence of neurological symp- ... Get Doc

Review What Lies Behind Serum Urate Concentration? Insights ...
The exception of the renal disorders familial juvenile hyperuricemic nephropathy and renal hypouricemia, are classified What lies behind serum urate concentration? Insights from genetic and genomic studies Kimiyoshi Ichida ... Get Document

The Quest For The Gene Responsible For Medullary Cystic ...
MCKD2 and some familial juvenile hyperuricemic nephropathy (FJHN) are allelic disorders [4]. FJHN is an autosomal-dominant disease with hyperuricemia, gout, and renal failure secondary to mutations in the UMOD gene coding for the Tamm-Horsfall glycopro- ... Read More

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 . ... Fetch Doc

Immature Renal Structures Associated With A Novel UMOD ...
Immature Renal Structures Associated With a Novel UMOD Sequence Variant Elisa Benetti, MD,1 Gianluca Caridi, BSc,2 Manuela Della Vella, kidney disease 2, familial juvenile hyperuricemic nephropathy, and glomerulocystic kidney disease. We ... Read Here

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? ... Visit Document

Genetic Factors Associated With Gout And Hyperuricemia
Genetic Factors Associated With Gout and Hyperuricemia Anthony J. Bleyer and Thomas C. Hart mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 14:2883-2893, 2003 ... Retrieve Doc

UROMODULIN Mutations Cause Familial Juvenile Hyperuricemic ...
In addition, the absence of these DNA sequence abnormalities in 110 alleles from 55 unrelated normal individuals indicated that they were unlikely to be polymorphisms that could be ... Return Doc

Autosomal Dominant Tubulointerstitial Kidney Disease ...
Familial Juvenile Hyperuricemic Nephropathy, Hereditary Interstitial Kidney Diseases, Tubulointerstitial Nephritis, and, as recently proposed, Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD).29–32 It is highly likely that the use ... Access This Document

Clinical And Genetic Testing Service For Inherited Renal ...
Addenbrooke’s Hospital has received funding from the DOH to establish a pilot multidisciplinary Renal Genetics and Tubular Disorders Clinic. Patients can be seen by a Familial Juvenile Hyperuricemic Nephropathy/ Medullary Cystic Disease ... View Doc

Medullary Cystic Kidney Disease 2: UMOD Gene Deletion/Duplication
The spectrum of UMOD-related kidney disease (uromodulin-associated kidney disease) includes familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease type 2 (MCKD2). Clinical findings typically include reduced fractional excretion of uric acid resulting in ... Document Viewer

Wild-type Uromodulin Prevents NFkB Activation In Kidney Cells ...
Wild-type uromodulin prevents NFkB activation in kidney cells, Familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD) Type 2 Electronic supplementary material The online version of this ... Read Document

Improving The Recognition Of Hereditary Interstitial Kidney ...
Improving the Recognition of Hereditary Interstitial Kidney Disease Anthony J. Bleyer Section on Nephrology, Wake Forest University School of Medicine, juvenile hyperuricemic nephropathy in some families. There are other forms of autosomal dominant interstitial kidney ... View Document

Die medullär-zystische Nierenerkrankung Typ 2, auch als MCKD2 oder ADMCKD2 (autosomal dominant medullary cystic kidney disease type 2) oder autosomal-dominante Nephronophthise bezeichnet, ist eine sehr seltene ernsthafte genetisch bedingte Erkrankung der Nieren. ... Read Article