Linked Life Data

20213338

Source:http://linkedlifedata.com/resource/pubmed/id/20213338

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2010-6-14
pubmed:abstractText
Here we report two brothers with electron-microscopically diagnosed Alport's syndrome (AS) who showed normal staining patterns for the alpha1(IV)-alpha4(IV) chains of collagen type IV, but abnormal expression of the alpha5(IV) and alpha6(IV) chains. Both patients had microscopic hematuria and mild proteinuria from around 10 years old, and had renal biopsies at 23 (older) and 26 (younger) years old due to increased proteinuria (0.5-0.8 g/day) with normal renal function. A skin biopsy of the patients' mother showed similar abnormal staining patterns for the alpha5(IV) and alpha6(IV) chains in the skin basement membranes. Both of them showed slow progression of renal dysfunction and no extrarenal manifestations. The existences of incomplete alpha3,alpha4,alpha5(IV) molecules in the glomerular basement membrane (GBM) and inadequately formed alpha5,alpha5,alpha6(IV) molecules are suggested for these patients. A missense mutation of the COL4A5 gene may present in this family as possible X-linked inheritance and a mild form of AS.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1437-7799
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
283-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Siblings with Alport's syndrome showing unique staining patterns for alpha5(IV) and alpha6(IV) chains of collagen type IV.
pubmed:affiliation
First Department of Medicine, Hamamatsu University School of Medicine, Higashi-ku, Hamamatsu, Shizuoka, 431-3192, Japan. tsu@hama-med.ac.jp
pubmed:publicationType
Journal Article, Case Reports