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Pediatric Nephrology
Published in: Pediatric Nephrology 2/2009

01-02-2009 | Clinical Quiz

An antenatal hyper-echogenic colon: answer

Authors: Elodie Merieau, Sylvie Cloarec, Jean François Benoist, Georges Haddad, Stéphane Benoit, Hubert Nivet

Published in: Pediatric Nephrology | Issue 2/2009

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Excerpt

1.
Hyper-echogenic colon at the third trimester of pregnancy in this consanguineous couple may indicate cystinuria, all the more because there is a familial history of lithiasis and renal failure.
 
2.
Amniocentesis was performed at 36 weeks of gestation. Liver function tests and karyotype were normal. An amino acid assay was performed on the amniotic fluid. The results were compatible with cystinuria.
 
…
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Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Galluci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacin M, Rizzoni G (2002) Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 13:2447–2553
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Boutros M, Vicanek C, Rozen R, Goodyer P (2005) Transient neonatal cystinuria. Kidney Int 67:443–448CrossRef
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Knoll T, Zollner A (2005) Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment and follow up. Pediatr Nephrol 20:19–24CrossRef
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Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggerman T, Arbeitsgemeinschaft für Pädiatrische Nephrologie (2002) Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC3A9 genes. Kidney Int 62:1136–1142CrossRef
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Brasseur-Daudruy M, Garel C, Brossard V, Broux F, Heckettsweiler B, Eurin D (2006) Hyper-echogenic colon: a prenatal sign of cystinuria? Prenat Diagn 26:1254–1255CrossRef
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Benoist JF, Imbard A, Dreux S, Garel C, Haddad G, Hoffet M, Biou D, Muller F (2007) Antenatal biochemical expression of cystinuria and relation to fetal hyperechogenic colon. Clin Chem 53:149–150CrossRef
Metadata
Title
An antenatal hyper-echogenic colon: answer
Authors
Elodie Merieau
Sylvie Cloarec
Jean François Benoist
Georges Haddad
Stéphane Benoit
Hubert Nivet
Publication date
01-02-2009
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 2/2009
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-008-0932-9

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