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

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