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X-linked Alport syn...
X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: A "European community Alport syndrome concerted action" study
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Jais, JP (författare)
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Knebelmann, B (författare)
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Giatras, I (författare)
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visa fler...
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De Marchi, M (författare)
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Rizzoni, G (författare)
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Renieri, A (författare)
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Weber, M (författare)
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Gross, O (författare)
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Netzer, KO (författare)
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Flinter, F (författare)
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Pirson, Y (författare)
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Dahan, K (författare)
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- Wieslander, Jörgen (författare)
- Lund University,Lunds universitet,Njurmedicin,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Nephrology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Persson, Ulf (författare)
- Lund University,Lunds universitet,Njurmedicin,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Nephrology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine
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Tryggvason, K (författare)
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Martin, P (författare)
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Hertz, JM (författare)
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Schroder, C (författare)
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Sanak, M (författare)
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Carvalho, MF (författare)
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Saus, J (författare)
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Antignac, C (författare)
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Smeets, H (författare)
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Gubler, MC (författare)
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(creator_code:org_t)
- 2003
- 2003
- Engelska.
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Ingår i: Journal of the American Society of Nephrology. - 1046-6673. ; 14:10, s. 2603-2610
- Relaterad länk:
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http://jasn.asnjourn...
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disease in girls and women. A "European Community Alport Syndrome Concerted Action" (ECASCA) group was established to delineate the Alport syndrome phenotype in each gender and to determine genotype-phenotype correlations in a large number of families. Data concerning 329 families, 250 of them with an X-linked transmission, were collected. Characteristics of heterozygous girls and women belonging to the 195 families with proven COL4A5 mutation are compared with those of hemizygous boys and men. Hematuria was observed in 95% of carriers and consistently absent in the others. Proteinuria, hearing loss, and ocular defects developed in 75%, 28%, and 15%, respectively. The probability of developing end-stage renal disease or deafness before the age of 40 yr was 12% and 10%, respectively, in girls and women versus 90 and 80%, respectively, in boys and men. The risk of progression to end-stage renal disease appears to increase after the age of 60 yr in women. Because of the absence of genotype-phenotype correlation and the large intrafamilial phenotypic heterogeneity, early prognosis of the disease in X-linked Alport syndrome carriers remains moot. Risk factors for developing renal failure have been identified: the occurrence and progressive increase in proteinuria, and the development of a hearing defect.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Urologi och njurmedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Urology and Nephrology (hsv//eng)
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Jais, JP
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Knebelmann, B
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Giatras, I
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De Marchi, M
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Rizzoni, G
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Renieri, A
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visa fler...
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Weber, M
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Gross, O
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Netzer, KO
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Flinter, F
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Pirson, Y
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Dahan, K
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Wieslander, Jörg ...
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Persson, Ulf
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Tryggvason, K
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Martin, P
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Hertz, JM
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Schroder, C
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Sanak, M
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Carvalho, MF
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Saus, J
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Antignac, C
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Smeets, H
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Gubler, MC
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visa färre...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Urologi och njur ...
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Journal of the A ...
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Lunds universitet