A family with X-linked benign familial hematuria

被引：14

作者：

Kaneko, Kazunari ^{[1
]}

Tanaka, Sachiyo ^{[1
]}

Hasui, Masafumi ^{[1
]}

Nozu, Kandai ^{[2
]}

Krol, Rafal Przybyslaw ^{[2
]}

Iijima, Kazumoto ^{[2
]}

Sugimoto, Keisuke ^{[3
]}

Takemura, Tsukasa ^{[3
]}

机构：

[1] Kansai Med Univ, Dept Pediat, Hirakata, Osaka 5731191, Japan

[2] Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo 657, Japan

[3] Kinki Univ, Sch Med, Dept Pediat, Osaka 589, Japan

来源：

PEDIATRIC NEPHROLOGY | 2010年 / 25卷 / 03期

关键词：

Alport syndrome; Benign familial hematuria; COL4A5; gene; ALPORT-SYNDROME; SOMATIC MOSAICISM; IV COLLAGEN; MUTATIONS; PHENOTYPE; COL4A3; GENES; DISEASE;

D O I：

10.1007/s00467-009-1370-z

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Gene mutations in COL4A5 located on Xq22 are believed to cause X-linked Alport syndrome, whereas mutations in COL4A3 and COL4A4 located on chromosome 2 are associated with autosomal inherited Alport syndrome or benign familial hematuria. A family with benign familial hematuria caused by COL4A5 mutation, implying X-linked transmission, is reported here for the first time. This result suggests that COL4A5 should be added to the list of causative genes for benign familial hematuria, although the mechanism(s) by which the same mutation leads to the distinct phenotypes, i.e. X-linked Alport syndrome or benign familial hematuria, remains unknown.

引用

页码：545 / 548

页数：4

共 15 条

[1] Badenas C, 2002, J AM SOC NEPHROL, V13, P1248, DOI 10.1681/ASN.V1351248
[2] Barker DF, 2001, AM J MED GENET, V98, P148, DOI 10.1002/1096-8628(20010115)98:2<148::AID-AJMG1024>3.0.CO
[3] 2-W
[4] Collagen α5 and α2(IV) chain coexpression:: Analysis of skin biopsies of Alport patients
de Serre, N. Patey-Mariaud
Garfa, M.
Bessieres, B.
Noel, L. H.
Knebelmann, B.
[J]. KIDNEY INTERNATIONAL, 2007, 72 (04) : 512 - 516
[5] Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling
Gross, O
Netzer, KO
Lambrecht, R
Seibold, S
Weber, M
[J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2002, 17 (07) : 1218 - 1227
[6] Alport's syndrome, Goodpasture's syndrome, and type IV collagen
Hudson, BG
Tryggvason, K
Sundaramoorthy, M
Neilson, EG
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (25) : 2543 - 2556
[7] Knebelmann B, 1996, AM J HUM GENET, V59, P1221
[8] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome
Krol, Rafal Przybyslaw
Nozu, Kandai
Nakanishi, Koichi
Iijima, Kazumoto
Takeshima, Yasuhiro
Fu, Xue Jun
Nozu, Yoshimi
Kaito, Hiroshi
Kanda, Kyoko
Matsuo, Masafumi
Yoshikawa, Norishige
[J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2008, 23 (08) : 2525 - 2530
[9] Benign familial hematuria due to mutation of the type IV collagen alpha 4 gene
Lemmink, HH
Nillesen, WN
Mochizuki, T
Schroder, CH
Brunner, HG
vanOost, BA
Monnens, LAH
Smeets, HJM
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1996, 98 (05) : 1114 - 1118
[10] Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis
Pierides, Alkis
Voskarides, Konstantinos
Athanasiou, Yiannis
Ioannou, Kyriacos
Damianou, Loukas
Arsali, Maria
Zavros, Michalis
Pierides, Michael
Vargemezis, Vasilios
Patsias, Charalambos
Zouvani, Ioanna
Elia, Avraam
Kyriacou, Kyriacos
Deltas, Constantinos
[J]. NEPHROLOGY DIALYSIS TRANSPLANTATION, 2009, 24 (09) : 2721 - 2729

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