Hyper-echogenic colon: a prenatal sign of cystinuria?

Brasseur‐Daudruy, M.; Garel, Catherine; Brossard, V.; Broux, Françoise; Heckettsweiler, B.; Eurin, D.

doi:10.1002/pd.1597

Cited by 26 publications

(30 citation statements)

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“…Lorsque le diagnostic échographique de cystinurie est évoqué, l'IRM n'est pas indispensable. Elle est utile pour rechercher des malformations digestives associées [9].…”

Section: Discussionunclassified

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Côlon hyperéchogène et cystinurie. Intérêt du diagnostic prénatal

et al. 2010

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La cystinurie est une maladie rénale autosomique récessive secondaire à un trouble de la réabsorption tubulaire des acides aminés dibasiques. Elle se manifeste chez les patients homozygotes par des lithiases rénales, responsables de coliques néphrétiques, entraînant à long terme des insuffisances rénales. Nous avons suivi, au sein du service de gynécologie-obstétrique de l'hôpital de La Conception et du centre de diagnostic prénatal de l'hôpital de La Timone, une patiente qui présentait à l'échographie obstétricale du troisième trimestre un côlon hyperéchogène. L'enquête génétique a confirmé le diagnostic de cystinurie chez le foetus et chez les autres membres de la fratrie. Le diagnostic précoce de cystinurie permet, par des recommandations simples (hydratation et alcalinisation), de prévenir les complications de cystinurie. Pour citer cette revue : Rev. Méd. Périnat. 2 (2010). Mots clés Cystinurie · Diagnostic prénatal · Échographie foetaleAbstract Cystinuria, an inherited autosomal recessive metabolic disorder, is characterized by the inadequate reabsorption of dibasic amino acids in the proximal convoluted tubules during the filtering process in the kidneys. Homozygous patients make cystine stones, and in the long term this causes renal failure. In the service of gynecologyobstetrics of the hospital of The Conception and in the antenatal diagnostic centre of the hospital of Timone, we observed a patient whose fetus showed a hyperechogenic colon during the third term obstetric ultrasonography. The genetic investigation confirmed the diagnosis of cystinuria in the fetus and in other siblings. A premature diagnosis of cystinuria can therefore prevent the complications of cystinuria by applying simple remedies like hyperhydration and alkalization. To cite this journal: Rev. Méd. Périnat. 2 (2010).

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“…Lorsque le diagnostic échographique de cystinurie est évoqué, l'IRM n'est pas indispensable. Elle est utile pour rechercher des malformations digestives associées [9].…”

Section: Discussionunclassified

“…Après la découverte d'un côlon hyperéchogène, il est nécessaire de réaliser une enquête génétique, une amniocentèse (caryotype, recherche de mucoviscidose), une analyse chromatographique du liquide amniotique et des sérologies maternelles [9].…”

Section: Discussionunclassified

Côlon hyperéchogène et cystinurie. Intérêt du diagnostic prénatal

et al. 2010

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“…This abnormality was unexplained until recently. In 2006, Brasseur-Daudruy et al [6] reported a hyper-echogenic colon in the third trimester of pregnancy in a girl who had lithiasis at 14 months of age. Cystinuria was subsequently diagnosed.…”

Section: Discussionmentioning

confidence: 99%

“…In four of the six fetal hyper-echogenic colons (samples were not available for two), cystinuria was confirmed after birth. Brasseur-Daudruy et al [6] found cystine in the meconium in one new-born. These researchers hypothesized that this might have been a consequence of the fetus absorbing amniotic fluid containing a large quantity of cystine, which would be excreted by the fetal kidneys in cases of cystinuria.…”

Section: Discussionmentioning

confidence: 99%

An antenatal hyper-echogenic colon: answer

et al. 2009

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Answers 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.The female infant was born at term weighing 3150 g; her length was 50 cm and head circumference 33 cm. The results of a clinical examination at birth were normal, and breast feeding was started. Urinary amino acid chromatography was performed on the parents and the infant. Urinary excretion of cystine, arginine, lysine and ornithine was very high in the infant [cystine 888 μmol/mM creatinine (7-30 μmol/mM); arginine 1612 μmol/mM creatinine (0-9 μmol/mM); lysine 2505 μmol/mM creatinine (10-68 μmol/mM); ornithine 1175 μmol/mM creatinine (0-7 μmol/mM)]. The mother showed a slight increase in the excretion of dibasic amino acids [cystine 22 μmol/mM creatinine (6-34 μmol/mM); arginine 10 μmol/mM creatinine (0-5 μmol/mM); lysine 235 μmol/mM creatinine (5-58 μmol/mM); ornithine 12 μmol/mM creatinine (0-5 μmol/mM)]. The father's chromatography results were normal. The results were compatible with cystinuria in the infant. A genetic analysis was performed, and the results confirmed type A cystinuria. The infant was homozygous for the c.808C>T mutation on the SLC3A1 gene. This mutation results in a stop codon in position 270 of the gene which encodes rBAT protein.3. Treatment with 14‰ sodium bicarbonate at 1.2 mEq/kg per day was started, and advice was given to the parents regarding water supplementation. An ultrasound examination of the infant taken during the out-patient followup at 1 month of age was normal for the colon and kidneys. At 6 months of age, routine ultrasound examination revealed that the infant had two renal stones (dimensions 1.8 and 1.9 mm) in the right kidney. The parents admitted that the administration of sodium bicarbonate and water was difficult.Potassium bicarbonate and water were administered spread out over a 24-h period by gastric tube: 800 mg (8 mEq) of potassium bicarbonate with 100 ml of water was given during the day and 800 mg (8 mEq) with 300 ml of

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“…La situation la plus fréquente est dominée par la gestion du risque lié à la découverte d'un grêle hyperéchogène [13][14][15]. Le bilan initial, orienté par l'anamnèse, repose sur la biologie (bilan infectieux, caryotype, recherche de mutations pour la mucoviscidose) plus que sur l'imagerie.…”

Section: Diagnostic D'une Pathologie Du Tube Digestif Foetalunclassified

Imagerie du tube digestif fœtal

Bach-Segura

Droullé

2008

Gynécologie Obstétrique & Fertilité

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Hyper-echogenic colon: a prenatal sign of cystinuria?

Cited by 26 publications

References 6 publications

Côlon hyperéchogène et cystinurie. Intérêt du diagnostic prénatal

Côlon hyperéchogène et cystinurie. Intérêt du diagnostic prénatal

An antenatal hyper-echogenic colon: answer

Imagerie du tube digestif fœtal

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