Early proximal tubular dysfunction in Lowe's syndrome

被引:21
作者
Laube, GF
Russell-Eggitt, IM
van't Hoff, WG
机构
[1] Great Ormond St Hosp Children, London WC1N 3JH, England
[2] Inst Child Hlth, Ophthalmol Unit, London, England
[3] Inst Child Hlth, Nephrourol Unit, London, England
关键词
D O I
10.1136/adc.2003.031187
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
The early diagnosis of Lowe's syndrome can be difficult. Urinary excretion of retinol binding protein (RBP) and the lysosomal enzyme N-acetyl-glucosaminidase (NAG) were significantly increased in boys with Lowe's syndrome. Measurement of these urine parameters is recommended in suspected cases.
引用
收藏
页码:479 / 480
页数:2
相关论文
共 6 条
[1]   THE LOWE OCULOCEREBRORENAL SYNDROME GENE ENCODES A PROTEIN HIGHLY HOMOLOGOUS TO INOSITOL POLYPHOSPHATE-5-PHOSPHATASE [J].
ATTREE, O ;
OLIVOS, IM ;
OKABE, I ;
BAILEY, LC ;
NELSON, DL ;
LEWIS, RA ;
MCINNES, RR ;
NUSSBAUM, RL .
NATURE, 1992, 358 (6383) :239-242
[2]   CLINICAL AND LABORATORY FINDINGS IN THE OCULOCEREBRORENAL SYNDROME OF LOWE, WITH SPECIAL REFERENCE TO GROWTH AND RENAL-FUNCTION [J].
CHARNAS, LR ;
BERNARDINI, I ;
RADER, D ;
HOEG, JM ;
GAHL, WA .
NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (19) :1318-1325
[3]   Diagnostic value of urinary retinol-binding protein in childhood nephrotic syndrome [J].
Dillon, SC ;
Taylor, GM ;
Shah, V .
PEDIATRIC NEPHROLOGY, 1998, 12 (08) :643-647
[4]   Glomerular protein sieving and implications for renal failure in Fanconi syndrome [J].
Norden, AGW ;
Lapsley, M ;
Lee, PJ ;
Pusey, CD ;
Scheinman, SJ ;
Tam, FWK ;
Thakker, RV ;
Unwin, RJ ;
Wrong, O .
KIDNEY INTERNATIONAL, 2001, 60 (05) :1885-1892
[5]   PREDICTION OF ACUTE-RENAL-FAILURE AFTER BIRTH ASPHYXIA [J].
ROBERTS, DS ;
HAYCOCK, GB ;
DALTON, RN ;
TURNER, C ;
TOMLINSON, P ;
STIMMLER, L ;
SCOPES, JW .
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 1990, 65 (10) :1021-1028
[6]   LOW-MOLECULAR-WEIGHT PROTEINS IN CHILDREN WITH RENAL-DISEASE [J].
TOMLINSON, PA .
PEDIATRIC NEPHROLOGY, 1992, 6 (06) :565-571