ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 65 P57 | DOI: 10.1530/endoabs.65.P57

A case of familial hyperkalemia due to Gordon's syndrome

Manjusha Rathi

Sherwood Forest Hospitals NHS Foundation Trust, Sutton in Ashfield, UK.

Gordon’s syndrome is a rare, autosomal dominant disorder characterized by hyperkalaemia, hypertension, mild hyperchloraemic metabolic acidosis despite normal glomerular filtration rate, with low or low-normal plasma renin activity and aldosterone concentrations. Here we describe a case of Gordon’s syndrome presenting a diagnostic challenge. She first presented age 17 yrs with constipation and abdominal pain. No significant past medical or medication history to note. General examination was unremarkable. BP126/60. She was incidentally noted to have raised potassium: 7.1 mmol/l with normal renal function. 24 h urine potassium, urinary catecholamine’s, Serum aldosterone, renin, fasting blood glucose, short synacthen test and autoimmune profile were normal. A presumptive diagnosis of Isolated Hypoaldosteronism versus Renal Tubular Acidosis was made and fludrocortisone therapy was started. She refused genetic testing. Age 20, she was readmitted with hyperkalaemia and elevated BP170/100. Secondary causes of hypertension excluded and fludrocortisone dose reduced. During follow up , we kept open mind regarding underlying cause for Hyperkalemia. As she was asymptomatic, she refused genetic testing and did not undertake all investigations as suggested. Finally age 29 years, she agreed genetic testing which confirmed Gordon’s syndrome (pseudohypoaldosteronism type II). Fludrocortisone was stopped, thiazide diuretic started with good results and no further episodes of hyperkalemia. Thiazides are known to correct chloride dependent clinical features in this condition. Since above diagnosis, her mother, sister and her son have been tested positive for Gorden Syndrome. Even though Gordon’s syndrome, is characterized by salt-dependent hypertension, hyperkalemia and metabolic acidosis, our patient only had isolated hyperkalemia. A high index of suspicion is required to diagnose this condition. Although genetic link was suspected for several years, it took almost 12 years to finally achieve a correct diagnosis and initiating appropriate management.

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