Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

Clinical Journal of the American Society of Nephrology

Volumn 6, Issue 10, 2011, Pages 2429-2438

  Bollée, Guillaume ^a,b   Dahan, Karin ^c   Flamant, Martin ^b,d   Moriniere, Vincent ^a   Pawtowski, Audrey ^a   Heidet, Laurence ^a   Lacombe, Didier ^e   Devuyst, Olivier ^c   Pirson, Yves ^c   Antignac, Corinne ^a,b,d   Knebelmann, Bertrand ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^d BICHAT HOSPITAL   (France)

^e BORDEAUX UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1; TAMM HORSFALL GLYCOPROTEIN;

ADULT; ARTICLE; CLINICAL FEATURE; EXON; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPERURICEMIA; INTERSTITIAL NEPHRITIS; KIDNEY FUNCTION; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; PHENOTYPE; SURVIVAL TIME; URIC ACID URINE LEVEL;

ADULT; BELGIUM; BIOLOGICAL MARKERS; CENTRAL NERVOUS SYSTEM DISEASES; CHI-SQUARE DISTRIBUTION; DENTAL ENAMEL; DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLOMERULAR FILTRATION RATE; GOUT; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HEREDITY; HUMANS; HYPERURICEMIA; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; MALE; MUTATION; NEPHRITIS, INTERSTITIAL; PARIS; PEDIGREE; PHENOTYPE; RETROSPECTIVE STUDIES; RISK ASSESSMENT; RISK FACTORS; URIC ACID; UROMODULIN; YOUNG ADULT;

EID: 80054004978     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.01220211     Document Type: Article

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