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Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
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Pseudohypoaldosteronism type II (PHA II) or Gordon Syndrome is a rare, autosomally inherited disease with unknown prevalence. It is caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 gene. It is characterized by hypertension, hyperkalemia, hyperchloremic metabolic acidosis and low plasma aldosterone levels, but otherwise normal kidney function. The age of onset of PHA2 is variable, ranging from infancy or childhood to adolescence and adulthood. The electrolyte and blood pressure abnormalities of PHA II are often managed with salt restriction and hydrochlorothiazide (HCTZ). Here we report a rare case of Pseudohypoaldosteronism type II in an adolescent patient
21 years old male presented with bilateral leg swelling of 1 week duration associated with reddish discoloration of urine, headache and generalized malaise of the same duration. In the ED, He was found to be hypertensive at 160/100 mmHg. Blood count showed normal white count, platelets and hemoglobin. Comprehensive metabolic panel showed sodium-138.54mmol/l,Potassium 6.85mmol/l,chloride113.5mmol/L bicarbonate 16, creatinine 1.2mg/dl, and normal liver enzymes. Urine electrolytes were not done. Arterial Blood Gas showed pH of 7.32. Plasma renin activity was low normal at 4.91pg/dl and aldosterone level was 35pg/dl .Abdominopelvic ultrasound was unremarkable .The blood work was consistent with Pseudohypoaldosteronism type II or Gordon syndrome. No similar family history.
He is currently being treated with hydrochlorothiazide, with well controlled blood pressure and normal electrolytes.
Pseudohypoaldosteronism type II or Gordon’s Syndrome is a rare disease, with usually autosomal dominant inheritance, with no specific diagnostic criteria for diagnosis. It should be suspected in adolescent or adult patients with hyperkalemia with normal glomerular filtration, accompanied by hypertension (can be absent), metabolic acidosis, hyperchloremia, low normal plasma renin and relatively normal aldosterone.
