Literature DB >> 17089441

Hyper-echogenic colon: a prenatal sign of cystinuria?

M Brasseur-Daudruy1, C Garel, V Brossard, F Broux, B Heckettsweiler, D Eurin.   

Abstract

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.

Entities:  

Mesh：

Year:  2006        PMID： 17089441     DOI： 10.1002/pd.1597

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  7 in total

Review 1.  Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Authors:  Christine Vianey-Saban; Cécile Acquaviva; David Cheillan; Sophie Collardeau-Frachon; Laurent Guibaud; Cécile Pagan; Magali Pettazzoni; Monique Piraud; Antonin Lamazière; Roseline Froissart
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.982

Review 2.  Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

Authors:  Laurent Guibaud; Sophie Collardeau-Frachon; Audrey Lacalm; Mona Massoud; Massimiliano Rossi; Marie Pierre Cordier; Christine Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  2016-11-16       Impact factor: 4.982

3.  Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.

Authors:  Juan Alberto Piñero-Fernández; Carmen Vicente-Calderón; María José Lorente-Sánchez; María Jesús Juan-Fita; José María Egea-Mellado; Inmaculada C González-Gallego
Journal:  Pediatr Nephrol       Date:  2022-10-13       Impact factor: 3.651

4.  Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Authors:  Pascaline Gaildrat; Said Lebbah; Abdellah Tebani; Bénédicte Sudrié-Arnaud; Isabelle Tostivint; Guillaume Bollee; Hélène Tubeuf; Thomas Charles; Aurelia Bertholet-Thomas; Alice Goldenberg; Frederic Barbey; Alexandra Martins; Pascale Saugier-Veber; Thierry Frébourg; Bertrand Knebelmann; Soumeya Bekri
Journal:  Mol Genet Genomic Med       Date:  2017-05-16       Impact factor: 2.183

5.  Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.

Authors:  Christos Dimitriou; Souha Saliba; Xavier Peyrassol; Wafa Ben Abbou; Marie Cécile Nassogne; Carine Neugroschl; Elsa Wiame; Anne De Leener; Marie Cassart
Journal:  Clin Case Rep       Date:  2020-03-06

6.  Antenatal urolithiasis: A case report.

Authors:  Sumona Bose; Arpana Iyengar; Attibele Mahadevaiah Shubha
Journal:  Front Pediatr       Date:  2022-08-11       Impact factor: 3.569

Review 7.  Nephrolithiasis related to inborn metabolic diseases.

Authors:  Pierre Cochat; Valérie Pichault; Justine Bacchetta; Laurence Dubourg; Jean-François Sabot; Christine Saban; Michel Daudon; Aurélia Liutkus
Journal:  Pediatr Nephrol       Date:  2009-01-21       Impact factor: 3.714
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.