TITLE

Genetic heterogeneity of Alport syndrome

AUTHOR(S)
Feingold, Josué; Bois, Etienne; Chompret, Agnès; Broyer, Michel; Gubler, Marie-Claire; Grünfeld, Jean-Pierre
PUB. DATE
April 1985
SOURCE
Kidney International;Apr1985, Vol. 27 Issue 4, p672
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Forty-one families have been studied with stringent diagnostc criteria of Alport syndrome: proven renal disease with hematuria affecting at least two relatives, neural hearing loss in at least one affected individual, and evolution to renal failure in at leastone affected individual. The proportion of affected offsprings of affected females does not significantly differ from the ratio expected for a dominant trait. The descendance of affected males shows a lack of affected males. In four families, with parental consanguinity and nonaffected parents, te findings agree with an autosomal recessive inheritance. Study of quantitative traits such as death or renal death among brothers, uncle-nephew pairs and whole families shows evident intra-familial resemblances. We conclude that Alport syndrome seems to be a heterogeneous state composed of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant, and an autosomal recessive form.
ACCESSION #
15027505

 

Related Articles

  • Renal Mass in an Otherwise Healthy Man. Rubinas, Tara C.; Flanigan, Robert C.; Picken, Maria M. // Archives of Pathology & Laboratory Medicine;Jan2004, Vol. 128 Issue 1, pe19 

    Presents a case report of epithelioid angiomyolipoma in a man with a history of microhematuria and renal mass. Radiology report for the man; Characteristics of angiomyolipoma; Epithelioid variant of angiomyolipoma; Description of renal epithelioid oxyphilic neoplasms.

  • New markers for analyzing the cause of hematuria. Janssens, Pim M. W. // Kidney International Supplement;Nov1994, Issue 47, pS-115 

    Discusses the new markers for analyzing the cause of hematuria. Description and prevalence of hematuria; Usability of proteinuria; Localization of Tamm Horsfall glycoprotein in the kidney; Development of an immunocytochemical staining technique; Use of material from kidney transplantation...

  • Evaluation of Hematuria in Adults. Riesenberg, Don; Sutton, James M. // JAMA: Journal of the American Medical Association;5/9/90, Vol. 263 Issue 18, p2475 

    Discusses the diagnosis of hematuria in adults. Definition and demographics of microscopic hematuria (MH); Laboratory examinations to test for MH; Recommendations for evaluation of patients with MH.

  • Use of mizoribine as a rescue drug for steroid-resistant pediatric IgA nephropathy. Ikezumi, Yohei; Suzuki, Toshiaki; Karasawa, Tamaki; Kawachi, Hiroshi; Nikolic-Paterson, David J.; Uchiyama, Makoto // Pediatric Nephrology;Apr2008, Vol. 23 Issue 4, p645 

    Recent clinical trials have shown a beneficial effect of mizoribine (Miz), an immunosuppressive drug, in the treatment of new-onset pediatric IgA nephropathy (IgAN). In this study, we evaluated the efficacy of Miz treatment in three children with established steroid-resistant IgAN. The patients...

  • Eggs in the kidney. Dial, Cherif; Noël, Laure-Hélène // Kidney International;May2010, Vol. 77 Issue 10, p934 

    The article discusses an unusual case of Schistosoma hematobium infection which is associated with immune complex glomerulonephritis and granulomatous interstitial nephritis. It mentions a case of a 12-year-old child without hematuria but has kidney failure. It notes that Schistosoma hematobium...

  • Asymptomatic Microscopic Hematuria in Adults: Summary of the AUA Best Practice Policy Recommendations. Grossfeld, Gary D.; Wolf, Jr., J. Stuart; Litwin, Mark S.; Hricak, Hedvig; Shuler, Cathryn L.; Agerter, David C.; Carroll, Peter R. // American Family Physician;3/15/2001, Vol. 63 Issue 6, p1145 

    The American Urological Association (AUA) convened the Best Practice Policy Panel on Asymptomatic Microscopic Hematuria to formulate policy statements and recommendations for the evaluation of asymptomatic microhematuria in adults. The recommended definition of microscopic hematuria is three or...

  • Microscopic urinalysis in glomerulonephritis. Fairley, Kenneth F.; Birch, Douglas F. // Kidney International Supplement;Jul1993, Issue 42, pS-9 

    Presents a study which identifies the signs exhibited by patients with glomerulonephritis which are of diagnostic or prognostic importance. Consideration of glomerulonephritis as a common cause of hematuria; Presentation of evidences which will confirm that the glomerular source of bleeding...

  • Cobras in the bladder? Liu, K-L.; Lee, W-J.; Chang, C-C.; Chueh, S-C.; Chen, S-J. // Kidney International;Dec2007, Vol. 72 Issue 12, p1561 

    The article presents a case of a 50-year-old woman who was admitted to the hospital due to the occurrence of fever, chills and gross hematuria. In a physical examination made on her, she was seen to be in good physical condition with leukocytosis and normal renal function. She was administered...

  • Painless Hematuria in a 14-Year-Old Boy. Ziai, Mohsen // Clinical Pediatrics;Dec1974, Vol. 13 Issue 12, p1083 

    The article presents a case study about painless hematuria in a 14-year-old boy. 14-year old white boy was admitted to Children's Hospital of San Francisco for evaluation of painless hematuria. He reportedly had been in good health until one month previously, when he was struck in the...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics