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Characterization of a large Lebanese family segregating IgA nephropathy

Show simple item record Karnib H.H. Sanna-Cherchi S. Zalloua P.A. Medawar W. D'Agati V.D. Lifton R.P. Badr K. Gharavi A.G.
dc.contributor.editor Mar-2007 2017-09-07T07:00:03Z 2017-09-07T07:00:03Z 2007
dc.identifier 10.1093/ndt/gfl677
dc.identifier.issn 09310509
dc.description.abstract Background. Familial aggregation of IgA nephropathy (IgAN) suggests that genetic factors contribute to the development of this trait. Because clinical manifestations in IgAN families are often limited to episodic haematuria, large kindreds tractable to linkage analysis have been difficult to identify. Methods. We identified a large Lebanese-Druze kindred ascertained via an index case with biopsy-documented IgAN. We performed systematic screening of 38 family members and tested linkage to reported IgAN loci. Results. Screening of this family identified 16 affected individuals, including 2 individuals with biopsy-documented IgAN and 14 with chronic renal failure or abnormal urinalyses on at least three separate occasions. This kindred spanned five generations and contained five consanguineous unions. Multigenerational inheritance suggested that autosomal dominant inheritance was most likely. Phenotypic manifestations among affected individuals varied from isolated haematuria to advanced renal failure necessitating transplantation; one instance of IgAN recurrence after transplantation was also documented. Older age was associated with greater severity of disease and higher incidence of renal failure. Parametric and non-parametric analyses with 33 microsatellite markers did not reveal any evidence of linkage to reported IgAN loci on chromosomes 6q2-23, 2q36 and 4q22-31. Conclusions. We describe one of the largest multigenerational IgAN kindreds reported to date. The high incidence of renal failure among older generations suggests a significant risk of progression to renal failure. We found no evidence of linkage to known loci, suggesting that familial IgAN encompasses multiple subtypes that will require distinction based on genetic or biomarker data. © 2007 Oxford University Press.
dc.format.extent Pages: (772-777)
dc.language English
dc.publisher OXFORD
dc.relation.ispartof Publication Name: Nephrology Dialysis Transplantation; Publication Year: 2007; Volume: 22; no. 3; Pages: (772-777);
dc.source Scopus
dc.title Characterization of a large Lebanese family segregating IgA nephropathy
dc.type Article
dc.contributor.affiliation Karnib, H.H., Department of Medicine, American University of Beirut, Beirut, Lebanon, Department of Medicine, Division of Nephrology, Columbia University College of Physician and Surgeons, 630 W 168th Street, New York, NY 10032, United States
dc.contributor.affiliation Sanna-Cherchi, S., Department of Medicine, Division of Nephrology, Columbia University College of Physician and Surgeons, 630 W 168th Street, New York, NY 10032, United States
dc.contributor.affiliation Zalloua, P.A., Department of Medicine, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Medawar, W., Department of Medicine, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation D'Agati, V.D., Department of Pathology, Columbia University College of Physician and Surgeons, 630 W 168th street, New York, NY 10032, United States
dc.contributor.affiliation Lifton, R.P., Department of Genetics and Medicine, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, United States
dc.contributor.affiliation Badr, K., Department of Medicine, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Gharavi, A.G., Department of Medicine, Division of Nephrology, Columbia University College of Physician and Surgeons, 630 W 168th Street, New York, NY 10032, United States
dc.contributor.authorAddress Gharavi, A.G.; Department of Medicine, Columbia University College of Physicians and Surgeons, 630 W 168th street, New York, NY 10032, United States; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Physiology;
dc.contributor.authorDepartment Physiology
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Karnib, HH
dc.contributor.authorInitials Sanna-Cherchi, S
dc.contributor.authorInitials Zalloua, PA
dc.contributor.authorInitials Medawar, W
dc.contributor.authorInitials D'Agati, VD
dc.contributor.authorInitials Lifton, RP
dc.contributor.authorInitials Badr, K
dc.contributor.authorInitials Gharavi, AG
dc.contributor.authorReprintAddress Gharavi, AG (reprint author), Columbia Univ Coll Phys and Surg, Dept Med, Div Nephrol, 630 W 168th St,PandS 10-432, New York, NY 10032 USA.
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 14
dc.description.citedTotWOSCount 18
dc.description.citedWOSCount 15
dc.format.extentCount 6
dc.identifier.coden NDTRE
dc.identifier.pubmedID 17172253
dc.identifier.scopusID 33847629155
dc.relation.ispartOfISOAbbr Nephrol. Dial. Transplant.
dc.relation.ispartOfIssue 3
dc.relation.ispartofPubTitle Nephrology Dialysis Transplantation
dc.relation.ispartofPubTitleAbbr Nephrol. Dial. Transplant.
dc.relation.ispartOfVolume 22
dc.source.ID WOS:000244430800020
dc.type.publication Journal
dc.subject.otherAuthKeyword Familial aggregation
dc.subject.otherAuthKeyword IgA nephropathy
dc.subject.otherAuthKeyword Linkage analysis
dc.subject.otherChemCAS atenolol, 29122-68-7
dc.subject.otherChemCAS cyclosporin, 79217-60-0
dc.subject.otherIndex atenolol
dc.subject.otherIndex cyclosporin
dc.subject.otherIndex immunoglobulin A
dc.subject.otherIndex adolescent
dc.subject.otherIndex adult
dc.subject.otherIndex age
dc.subject.otherIndex aged
dc.subject.otherIndex article
dc.subject.otherIndex autosomal dominant inheritance
dc.subject.otherIndex child
dc.subject.otherIndex chromosome 2q
dc.subject.otherIndex chromosome 4q
dc.subject.otherIndex chromosome 6q
dc.subject.otherIndex chronic kidney failure
dc.subject.otherIndex clinical article
dc.subject.otherIndex clinical feature
dc.subject.otherIndex consanguinity
dc.subject.otherIndex controlled study
dc.subject.otherIndex disease association
dc.subject.otherIndex disease course
dc.subject.otherIndex disease severity
dc.subject.otherIndex family study
dc.subject.otherIndex female
dc.subject.otherIndex gene locus
dc.subject.otherIndex genetic linkage
dc.subject.otherIndex genetic screening
dc.subject.otherIndex hematuria
dc.subject.otherIndex heredity
dc.subject.otherIndex human
dc.subject.otherIndex human cell
dc.subject.otherIndex immunoglobulin A nephropathy
dc.subject.otherIndex incidence
dc.subject.otherIndex kidney biopsy
dc.subject.otherIndex kidney transplantation
dc.subject.otherIndex Lebanon
dc.subject.otherIndex linkage analysis
dc.subject.otherIndex male
dc.subject.otherIndex microsatellite marker
dc.subject.otherIndex nonparametric test
dc.subject.otherIndex parametric test
dc.subject.otherIndex pathogenesis
dc.subject.otherIndex phenotype
dc.subject.otherIndex priority journal
dc.subject.otherIndex recurrent disease
dc.subject.otherIndex segregation analysis
dc.subject.otherIndex urinalysis
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Adult
dc.subject.otherIndex Aged
dc.subject.otherIndex Biopsy
dc.subject.otherIndex Child
dc.subject.otherIndex Disease Transmission, Vertical
dc.subject.otherIndex Female
dc.subject.otherIndex Genetic Predisposition to Disease
dc.subject.otherIndex Glomerulonephritis, IGA
dc.subject.otherIndex Hematuria
dc.subject.otherIndex Humans
dc.subject.otherIndex Incidence
dc.subject.otherIndex Kidney Failure, Chronic
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Linkage (Genetics)
dc.subject.otherIndex Male
dc.subject.otherIndex Middle Aged
dc.subject.otherIndex Pedigree
dc.subject.otherIndex Phenotype
dc.subject.otherIndex Prognosis
dc.subject.otherIndex Severity of Illness Index
dc.subject.otherKeywordPlus INCREASED RISK
dc.subject.otherKeywordPlus LINKAGE
dc.subject.otherKeywordPlus DISEASE
dc.subject.otherKeywordPlus GLOMERULONEPHRITIS
dc.subject.otherKeywordPlus CONSANGUINITY
dc.subject.otherKeywordPlus MUTATIONS
dc.subject.otherKeywordPlus GENE
dc.subject.otherWOS Transplantation
dc.subject.otherWOS Urology and Nephrology

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