Gordon syndrome: The importance of measuring blood pressure in children

• Published in: Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2016-08, Vol.23 (8), p.827-831
• Main Authors: Bruel, A, Vargas-Poussou, R, Jeunemaitre, X, Labbe, A, Merlin, E, Bessenay, L
• Format: Article
• Language: fre
• Subjects: Child; Cullin Proteins - genetics; Exons - genetics; Female; Humans; Hypertension - etiology; Mutation; Pseudohypoaldosteronism - diagnosis; Pseudohypoaldosteronism - genetics
• ISSN: 1769-664X
• DOI: 10.1016/j.arcped.2016.05.005

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.