title: [Gordon syndrome: The importance of measuring blood pressure in children].
abstract: Gordon's syndrome, or type II pseudo-hypoaldosteronism, is a rare cause of arterial hypertension in children. However, it is important to diagnose this syndrome because of the spectacular efficacy of thiazide diuretics. The typical clinical picture of Gordon syndrome includes, apart from arterial hypertension and dyskaliemia, hyperchloremia metabolic acidosis, hypercalciuria, a low rate of renin, and most frequently, a normal or high rate of aldosterone. Dental abnormalities and growth retardation can also be associated. In most cases, it is inherited in an autosomal dominant pattern. We report on a 7-year-old girl who was discovered with arterial hypertension during a consultation for chronic diarrhea. The association of growth retardation, hyperkaliemia, and metabolic acidosis oriented the diagnosis. Starting a thiazide diuretic helped control the arterial hypertension and the kaliemia in a spectacular manner. The genetic analysis proved the existence of a splice mutation on exon 9 of the CUL3 gene coding for cullin 3. This mutation is de novo.
authors.affiliation: Service de pédiatrie, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63100 Clermont-Ferrand, France. Electronic address: amandine.bruel@yahoo.fr.
authors.forename: A
authors.initials: A
authors.lastname: Bruel
authors.affiliation: Département de génétique, hôpital européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Vargas-Poussou
authors.affiliation: Département de génétique, hôpital européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France.
authors.forename: X
authors.initials: X
authors.lastname: Jeunemaitre
authors.affiliation: Service de pédiatrie, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63100 Clermont-Ferrand, France.
authors.forename: A
authors.initials: A
authors.lastname: Labbe
authors.affiliation: Service de pédiatrie, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63100 Clermont-Ferrand, France.
authors.forename: E
authors.initials: E
authors.lastname: Merlin
authors.affiliation: Service de pédiatrie, CHU d'Estaing, 1, place Lucie-et-Raymond-Aubrac, 63100 Clermont-Ferrand, France.
authors.forename: L
authors.initials: L
authors.lastname: Bessenay
mesh_terms: D002648:Child; D044842:Cullin Proteins / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D006973:Hypertension / Q000209:etiology*; D009154:Mutation; D011546:Pseudohypoaldosteronism / Q000175:diagnosis* / Q000235:genetics
chemical_list: C503645:CUL3 protein, human; D044842:Cullin Proteins