[Possible responsibility of EDNRA gene triplication, coding for the endothelin 1 ET-A receptor in a case of congenital diaphragmatic hernia].
Congenital diaphragmatic hernia has a physiopathology unfully understood, and is the cause of an important morbimortality. We report the case of a fetus suffering from a diaphragmatic hernia associated with a EDNRA gene triplication, coding for the endothelin 1 receptor. High-resolution genetic techniques were able to find the possible origin of this pathology, and showed that it was an isolated form with a good prognostic. ET-A receptor over-expression in lung vessels may cause a vascular remodeling and a lung arterial high blood pressure. This lung abnormality would have occurred before the diaphragmatic defect.
Université Lille-II, hôpital Jeanne-de-Flandre, 1, rue Eugène-Avinée, 59037 Lille cedex, France. Electronic address: massonlaure@hotmail.com.
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Masson
Université Lille-II, hôpital Jeanne-de-Flandre, 1, rue Eugène-Avinée, 59037 Lille cedex, France; EA 4489, faculté de médecine Henri-Warembourg, université Lille-2, UPRES Lille Nord-de-France, 59045 Lille, France.
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Houfflin-Debarge
Université Lille-II, hôpital Jeanne-de-Flandre, 1, rue Eugène-Avinée, 59037 Lille cedex, France.
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Petit
Université Lille-II, hôpital Jeanne-de-Flandre, 1, rue Eugène-Avinée, 59037 Lille cedex, France.
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Vaast
Université Lille-II, hôpital Jeanne-de-Flandre, 1, rue Eugène-Avinée, 59037 Lille cedex, France.
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Coulon
D002894:Chromosomes, Human, Pair 4; D019332:Endothelin-1 / Q000235:genetics*; D005260:Female; D065630:Hernias, Diaphragmatic, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D006973:Hypertension / Q000209:etiology; D008168:Lung / Q000002:abnormalities / Q000000981:diagnostic imaging; D011247:Pregnancy; D044022:Receptor, Endothelin A / Q000378:metabolism*; D014314:Trisomy; D016216:Ultrasonography, Prenatal
D019332:Endothelin-1; D044022:Receptor, Endothelin A
Diaphragmatic hernia; Endothelin 1; Endothéline 1; Hernie de coupole diaphragmatique; Hypertension artérielle pulmonaire; Lung arterial high blood pressure