Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3 COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis

Nephrology Dialysis Transplantation

Volumn 24, Issue 9, 2009, Pages 2721-2729

  Pierides, Alkis ^a   Voskarides, Konstantinos ^b   Athanasiou, Yiannis ^a   Ioannou, Kyriacos ^a   Damianou, Loukas ^c,d   Arsali, Maria ^a   Zavros, Michalis ^a   Pierides, Michael ^e   Vargemezis, Vasilios ^d   Patsias, Charalambos ^a   Zouvani, Ioanna ^a   Elia, Avraam ^f   Kyriacou, Kyriacos ^g   Deltas, Constantinos ^b  

^a NICOSIA GENERAL HOSPITAL   (Cyprus)

^b UNIVERSITY OF CYPRUS   (Cyprus)

^c LIMASSOL GENERAL HOSPITAL   (Cyprus)

^d DEMOCRITUS UNIVERSITY OF THRACE   (Greece)

^e LEICESTER ROYAL INFIRMARY   (United Kingdom)

^f Archbishop Makarios III Hospital   (Cyprus)

^g CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

Benign familial microscopic haematuria (BFMH); ESRD; Focal segmental glomerulosclerosis (FSGS); Heterozygous COL4A3COL4A4 gene mutations; Thin basement membrane nephropathy (TBMN)

Indexed keywords

ARTICLE; CHRONIC KIDNEY DISEASE; COL 4A3 GENE; COL 4A4 GENE; CONTROLLED STUDY; DISEASE COURSE; FAMILIAL DISEASE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE MUTATION; HEMATURIA; HUMAN; MAJOR CLINICAL STUDY; PREVALENCE; PRIORITY JOURNAL; PROTEINURIA; RISK FACTOR;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; CYPRUS; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HEMATURIA; HETEROZYGOTE; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUTATION; NEPHRITIS, HEREDITARY; PEDIGREE; PROTEINURIA;

EID: 69249108050     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfp158     Document Type: Article

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