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| Benign familial hematuria due to mutation of the type IV collagen alpha 4 gene |
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| Author(s): Lemmink HH, Nillesen WN, Mochizuki T, Schroder CH, Brunner HG, vanOost BA, Monnens LAH, Smeets HJM |
| Source: JOURNAL OF CLINICAL INVESTIGATION Volume: 98 Issue: 5 Pages: 1114-1118 Published: SEP 1 1996 |
| Times Cited: 109 References: 21 |
| Abstract: Benign familial hematuria (BFH) is characterized by autosomal dominant inheritance, thinning of the glomerular basement membrane (GEM) and normal renal function. It is frequent in patients with persistent microscopic hematuria, but cannot be clinically differentiated from the initial stages of Alport syndrome, a severe GEM disorder which progresses to renal failure, We present here linkage of benign familial hematuria with the COL4A3 and COL4A4 genes at 2q35-37 (Z(max) = 3.58 at theta = 0.0), Subsequently, a glycine to glutamic acid substitution was identified in the collagenous region of the COL4A4 gene, We conclude that type IV collagen defects cause both benign hematuria and Alport syndrome. Furthermore, our data suggest that BFH patients can be carriers of autosomal recessive Alport syndrome. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV LIMBURG, DIV GENET, NL-6201 BL MAASTRICHT, NETHERLANDS
2. UNIV NIJMEGEN HOSP, DEPT PEDIAT, NL-6500 HB NIJMEGEN, NETHERLANDS
3. UNIV NIJMEGEN HOSP, DEPT HUMAN GENET, NL-6500 HB NIJMEGEN, NETHERLANDS
4. ALBERT EINSTEIN COLL MED, DEPT MED, DIV NEPHROL, BRONX, NY 10467 USA
5. UNIV UTRECHT, DEPT CLIN SCI COMPAN ANIM, UTRECHT, NETHERLANDS |
| Publisher: ROCKEFELLER UNIV PRESS, 222 E 70TH STREET, NEW YORK, NY 10021 |
| Subject Category: Medicine, Research & Experimental |
| IDS Number: VF809 |
| ISSN: 0021-9738 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |