title: Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease.
abstract: Hyperuricemia is very common in industrialized countries and known to promote vascular smooth muscle cell proliferation. Juvenile hyperuricemia is a hallmark of uromodulin-associated kidney disease characterized by progressive interstitial renal fibrosis leading to end-stage renal disease within decades. Here we describe a member of a Polish-German family with a history of familial background of chronic kidney disease, hyperuricemia, and gout. This patient had hypertension because of bilateral small renal arteries, hyperuricemia, and chronic kidney disease. Clinical and molecular studies were subsequently performed in 39 family members, which included a physical examination, Duplex ultrasound of the kidneys, laboratory tests for renal function, and urine analysis. In eight family members contrast-enhanced renal artery imaging by computed tomography-angiography or magnetic resonance imaging was conducted and showed that bilateral non-arteriosclerotic small caliber renal arteries were associated with hyperuricemia and chronic kidney disease. Of the 26 family members who underwent genotyping, 11 possessed the P236R mutation (c.707C>G) of the uromodulin gene. All family members with a small caliber renal artery carried the uromodulin P236R mutation. Statistical analysis showed a strong correlation between reduced renal artery lumen and decreased estimated glomerular filtration rate. Thus, bilateral small caliber renal arteries are a new clinical phenotype associated with an uromodulin mutation.
authors: Department of Hypertension, Institute of Cardiology, Warsaw, Poland.
authors: Aleksander
authors: A
authors: Prejbisz
authors: Department of Nephrology, Medical School, Heinrich Heine University, University Hospital Duesseldorf, Duesseldorf, Germany.
authors: Lorenz
authors: L
authors: Sellin
authors: Department of Hypertension, Institute of Cardiology, Warsaw, Poland.
authors: Elżbieta
authors: E
authors: Szwench-Pietrasz
authors: Department of Nephrology, Medical School, Heinrich Heine University, University Hospital Duesseldorf, Duesseldorf, Germany.
authors: Magdalena
authors: M
authors: Woznowski
authors: Department of Radiology, Institute of Cardiology, Warsaw, Poland.
authors: Ilona
authors: I
authors: Michałowska
authors: Department of Radiology, Medical School, Heinrich Heine University, Duesseldorf, Germany.
authors: Dirk
authors: D
authors: Blondin
authors: Department of Cardiology, Railway Hospital, Pruszków, Poland.
authors: Dariusz
authors: D
authors: Sajnaga
authors: Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.
authors: Jorg T
authors: JT
authors: Epplen
authors: Department of Nephrology and Arterial Hypertension, Department of Research, Children's Memorial Health Institute, Warsaw, Poland.
authors: Mieczysław
authors: M
authors: Litwin
authors: Department of Human Genetics, Ruhr University Bochum, Bochum, Germany.
authors: Gabriele
authors: G
authors: Dekomien
authors: 1st Department of Radiology, Medical University of Warsaw, Warsaw, Poland.
authors: Magdalena
authors: M
authors: Januszewicz
authors: Nierenregister Hamburg, Department of Pathology, University Hospital Eppendorf, Hamburg, Germany.
authors: Udo
authors: U
authors: Helmchen
authors: Department of Nephrology, Dialysis and Internal Medicine, Medical University of Warsaw, Warsaw, Poland.
authors: Joanna
authors: J
authors: Matuszkiewicz-Rowińska
authors: Department of Nephrology, Endocrinology and Metabolic Diseases, Medical University of Silesia, Katowice, Poland.
authors: Marcin
authors: M
authors: Adamczak
authors: Department of Nephrology, Endocrinology and Metabolic Diseases, Medical University of Silesia, Katowice, Poland.
authors: Andrzej
authors: A
authors: Więcek
authors: Department of Hypertension, Institute of Cardiology, Warsaw, Poland.
authors: Andrzej
authors: A
authors: Januszewicz
authors: Department of Nephrology, Medical School, Heinrich Heine University, University Hospital Duesseldorf, Duesseldorf, Germany.
authors: Lars C
authors: LC
authors: Rump
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000792:Angiography; D002648:Child; D002908:Chronic Disease; D005260:Female; D005838:Genotype; D005919:Glomerular Filtration Rate; D006073:Gout / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D033461:Hyperuricemia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D007676:Kidney Failure, Chronic / Q000209:etiology; D007686:Kidney Tubules, Distal / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009929:Organ Size; D010375:Pedigree; D010641:Phenotype; D012077:Renal Artery / Q000000981:diagnostic imaging* / Q000473:pathology*; D014527:Uric Acid / Q000097:blood; D058949:Uromodulin / Q000032:analysis / Q000235:genetics*; D055815:Young Adult
chemical_list: D058949:Uromodulin; D014527:Uric Acid