Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases
| العنوان: | Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases |
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| المؤلفون: | Jonathan Rosenblatt, Emmanuel Spaggiari, Laure Macraigne, Bichr Allaf, Sophie Dreux, Georges Dimitrov, Alexandre Fabre, Christophe Buffat |
| المصدر: | Prenatal Diagnosis. 41:434-439 |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Diarrhea, Male, 0301 basic medicine, Paris, medicine.medical_specialty, Polyhydramnios, Amniotic fluid, Congenital chloride diarrhea, Noninvasive Prenatal Testing, Birth weight, Urine, 030105 genetics & heredity, Bartter syndrome, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Internal medicine, medicine, Humans, Genetics (clinical), Retrospective Studies, Fetus, 030219 obstetrics & reproductive medicine, business.industry, Infant, Newborn, Infant, Obstetrics and Gynecology, medicine.disease, Vomiting, Female, medicine.symptom, business, Metabolism, Inborn Errors |
| الوصف: | Objective Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios, leading to premature delivery. Affected neonates present with watery stools, sometimes mistaken as urine, leading to a misdiagnosis of Bartter syndrome. The aim of this study was to study the value of a prenatal biochemical pattern in the case of suspected CDD. Methods We retrospectively studied 12 amniotic fluids of CDD-affected fetuses prenatally suspected and confirmed after birth. Digestive enzymes, proteins and electrolytes were assayed and showed abnormal biochemical patterns. Results The 12 infants (8 CCD- and 4 CSD-affected) were born prematurely with a normal birth weight. Electrolytes and the Bartter index were normal for all cases. Amniotic fluid enzyme patterns were abnormal: anal leakage for 9, as expected, but vomiting of bile was observed for 3 infants, for whom an occlusive syndrome required surgery, and thereafter severe complications appeared with a poor prognosis. Conclusion Amniotic fluid biochemical patterns differentiate CDD from Bartter syndrome. If a vomiting bile pattern is observed, postnatal management should take into account the hypothesis of a most severe complication. This article is protected by copyright. All rights reserved. |
| تدمد: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.5878 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91ffd7f258fb7f363f5a25a7a4699595 https://doi.org/10.1002/pd.5878 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....91ffd7f258fb7f363f5a25a7a4699595 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10970223 01973851 |
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| DOI: | 10.1002/pd.5878 |