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Pol. Merkur. Lek (Pol. Med. J.), 2019, XLVII/281: 193-196 Maximize

Pol. Merkur. Lek (Pol. Med. J.), 2019, XLVII/281: 193-196

Title: Does Gordon’s syndrome always manifest as hypertension? – a case report of one family 

Authors: Cichoń-Kawa K, Mizerska-Wasiak M, Cieślik M, Zaniew M, Pańczyk-Tomaszewska M. 

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Does Gordon’s syndrome always manifest as hypertension? – a case report of one family


Cichoń-Kawa K,1 Mizerska-Wasiak M,1 Cieślik M,2 Zaniew M,3 Pańczyk-Tomaszewska M1.

1Department of Pediatrics and Nephrology Medical University of Warsaw, Poland; 2Student Research Group at Department of Pediatrics and Nephrology Medical University of Warsaw, Poland; 3Department of Pediatrics University of Zielona Góra, Poland

Gordon’s syndrome (pseudohipoaldosteronism type II) is a genetically determined, autosomal dominant type of monogenic hypertension caused by excessive reabsorption of chlorine accompanied by reabsorption of sodium and water.
Case reports
. The case of a family (2 brothers: 12 and 16 years old and their father), in whom genetic tests confirmed the presence of a mutation characteristic of Gordon syndrome, despite the absence of hypertension in boys. Diagnostics of the family started with a 12-year-old boy because of observed for 2 years hyperkalemia and delayed growth and puberty. The physical examination showed low height (<3c), discreet facial dysmorphic features (close spaced eyelid cracks, low-set ears) and lack of puberty, arterial pressure was normal. In laboratory tests, apart from hyperkalaemia at normal sodium level, hyperchloremia and metabolic acidosis were found. Plasma renin activity and aldosterone concentration were normal. There were no glomerular filtration abnormalities, renal parameters and kidney image in ultrasound examination were normal. Hyperkalemic tubular acidosis type IV was diagnosed and oral treatment with sodium bicarbonate was started. Due to the inability to achieve acidosis control with sodium bicarbonate and positive family history of hyperkalaemia and hypertension in the boy’s father, the suspicion of Gordon syndrome was raised. Simultaneously, in the studies performed in the 16-year-old brother of the patient hyperkalemic acidosis, normal blood pressure and growth within normal limits for sex and age were found. The treatment of boys and father with hydrochlorothiazide was started, which resulted in the equalization of acidosis and calemia and rapid normalization of blood pressure in the father.
Conclusions
. In patients with tubular hyperkalemic acidosis, despite the absence of hypertension, Gordon’s syndrome should be considered in the differentiation.

Key words: Gordon’s syndrome, hypertension, hyperkalemia, KLHL3, children

Pol Med J, 2019; XLVII (281); 193–196