Hyper-echogenic colon: a prenatal sign of cystinuria?

被引:23
作者
Brasseur-Daudruy, M. [1 ]
Garel, C.
Brossard, V.
Broux, F.
Heckettsweiler, B.
Eurin, D.
机构
[1] Univ Rouen Hosp, Dept Pediat Radiol, F-76031 Rouen, France
[2] Univ Rouen Hosp, Dept Neonatol, Rouen, France
[3] Univ Rouen Hosp, Dept Pediat Nephrol, Rouen, France
[4] Univ Rouen Hosp, Dept Biochem, Rouen, France
[5] Hop Robert Debre, Dept Pediat Radiol, Paris, France
关键词
cystinuria; prenatal diagnosis; colon; foetus;
D O I
10.1002/pd.1597
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We suggest the term 'hyper-echogenic colon' to describe a hyperechoic foetal colonic content with no other intestinal abnormality. This is a rare pattern, which to our knowledge, has never been correlated with a specific pathology. The accidental observation of a cystine kidney stone in an infant who presented with this sign during the prenatal period made it possible to diagnose this disease retrospectively in two other children. Copyright (c) 2006 John Wiley & Sons, Ltd.
引用
收藏
页码:1254 / 1255
页数:2
相关论文
共 6 条
[1]   Cystinuria in children:: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes [J].
Botzenhart, E ;
Vester, U ;
Schmidt, C ;
Hesse, A ;
Halber, M ;
Wagner, C ;
Lang, F ;
Hoyer, P ;
Zerres, K ;
Eggermann, T .
KIDNEY INTERNATIONAL, 2002, 62 (04) :1136-1142
[2]   ECHOGENIC COLONIC MECONIUM IN THE 3RD TRIMESTER - A NORMAL SONOGRAPHIC FINDING [J].
FUNG, ASL ;
WILSON, S ;
TOI, A ;
JOHNSON, JA .
JOURNAL OF ULTRASOUND IN MEDICINE, 1992, 11 (12) :676-678
[3]   Cystinuria in childhood and adolescence:: recommendations for diagnosis, treatment, and follow-up [J].
Knoll, T ;
Zöllner, A ;
Wendt-Nordahl, G ;
Michel, M ;
Alken, P .
PEDIATRIC NEPHROLOGY, 2005, 20 (01) :19-24
[4]   Intraabdominal fetal echogenic masses: A practical guide to diagnosis and management [J].
McNamara, A ;
Levine, D .
RADIOGRAPHICS, 2005, 25 (03) :633-645
[5]  
PAULSON EK, 1991, J ULTRAS MED, V10, P677
[6]   AREAS OF INCREASED ECHOGENICITY IN THE FETAL ABDOMEN - DIAGNOSIS AND SIGNIFICANCE [J].
RYPENS, FF ;
AVNI, EF ;
ABEHSERA, MM ;
DONNER, C ;
VERMEYLEN, DF ;
STRUYVEN, JL .
RADIOGRAPHICS, 1995, 15 (06) :1329-1344