Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy

被引：2

作者：

Ishida, Yasushi ^{[1
]}

Ishimaru, Asako ^{[1
]}

Tauchi, Hisamichi ^{[1
]}

Yamaguchi, Akiko ^{[2
]}

Yokoyama, Masayoshi ^{[2
]}

Hiroi, Kazuhiro ^{[3
]}

Wakamatsu, Nobuaki ^{[4
]}

Yamada, Yasukazu ^{[4
]}

机构：

[1] Ehime Univ, Dept Pediat, Grad Sch Med, Touon City, Ehime 7910295, Japan

[2] Ehime Univ, Dept Urol, Grad Sch Med, Touon City, Ehime 7910295, Japan

[3] Yawatahama City Hosp, Div Pediat, Yawatahama City, Ehime, Japan

[4] Aichi Human Serv Ctr, Inst Dev Res, Dept Genet, Aichi, Japan

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2008年 / 167卷 / 08期

关键词：

renal failure; partial HPRT deficiency; HPRT gene; hyperuricemia; new mutation;

D O I：

10.1007/s00431-007-0607-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe the case of a 1-year-old boy with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. At his first visit to the hospital, he was diagnosed with hyperuricemia and irreversible renal failure. The misssense mutation Asp185Gly (554A>G) was identified in exon 8 of his HPRT gene, and this mutation was inherited from the mother.

引用

页码：957 / 959

页数：3

共 12 条

[1] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy
Yasushi Ishida
Asako Ishimaru
Hisamichi Tauchi
Akiko Yamaguchi
Masayoshi Yokoyama
Kazuhiro Hiroi
Nobuaki Wakamatsu
Yasukazu Yamada
European Journal of Pediatrics, 2008, 167 : 957 - 959
[2] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure
Cherian, S
Crompton, CH
PEDIATRIC NEPHROLOGY, 2005, 20 (12) : 1811 - 1813
[3] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure
Sarah Cherian
Charles H. Crompton
Pediatric Nephrology, 2005, 20 : 1811 - 1813
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WINGEN, AM
LOFFLER, W
WALDHERR, R
SCHARER, K
PROCEEDINGS OF THE EUROPEAN DIALYSIS AND TRANSPLANT ASSOCIATION, 1985, 21 : 751 - 755
[5] Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase manifesting as acute renal damage
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INTERNAL MEDICINE, 1998, 37 (11) : 945 - 949
[6] DISORDER OF PURINE METABOLISM DUE TO PARTIAL DEFICIENCY OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE - A STUDY OF A FAMILY
KOGUT, MD
DONNELL, GN
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AMERICAN JOURNAL OF MEDICINE, 1970, 48 (02): : 148 - +
[7] PROBLEMS OF DIAGNOSIS AND INVITRO ENZYME INSTABILITY IN AN ADOLESCENT WITH HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY PRESENTING IN ACUTE-RENAL-FAILURE
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JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY, 1982, 20 (06): : 353 - 353
[8] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: A cautionary tale
Augoustides-Savvopoulou, P
Papachristou, F
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Dimitrakopoulos, K
Marinaki, AM
Simmonds, HA
PEDIATRICS, 2002, 109 (01) : E17
[9] ACUTE-RENAL-FAILURE IN INFANCY WITH PARTIAL DEFICIENCY OF HYPOXANTHINE-GUANINE-PHOSPHORIBOSYLTRANSFERASE (HGPRT)
WINGEN, AM
LOFFLER, W
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KIDNEY INTERNATIONAL, 1984, 26 (04) : 628 - 628
[10] FAILURE TO THRIVE, HYPERURICEMIA, AND RENAL-INSUFFICIENCY IN EARLY INFANCY SECONDARY TO PARTIAL HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY
LORENTZ, WB
BURTON, BK
TRILLO, A
BROWNING, MC
JOURNAL OF PEDIATRICS, 1984, 104 (01): : 94 - 97

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