Acute Kidney Failure: An Atypical Presentation of Gordon Syndrome

Introduction: Gordon syndrome is a rare form of genetic hypertension characterized by hyperkalemia and metabolic acidosis. It is usually diagnosed in teenagers or young adults with normal kidney function. We present a case of a young adult with Gordon syndrome presenting with acute renal failure. Case Description: A 24-year-old Caucasian male with history of hypertension since he was 16 years old, hyperkalemia, non-adherent to thiazide diuretics presented to the hospital with abdominal pain and vomiting. Family history was significant for early onset hypertension in his brother, father, and paternal grandmother. On arrival blood pressure (BP) was 250/160 mmHg. A comprehensive metabolic panel revealed a creatinine of 9.9 mg/dL, potassium of 3.0 mmol/L, sodium of 136 mmol/L, chloride of 91 mmol/L, CO2 of 18 mmol/L. The complete blood count was significant Hb of 10 g/dL, platelet 87/ mcL. A renal ultrasound revealed increased echogenicity of both kidneys. Detailed serologic work-up for glomerulonephritis was negative. BP was managed with intravenous and oral antihypertensives. Due to persistent azotemia, the patient was initiated on hemodialysis and a kidney biopsy was performed. Kidney biopsy revealed findings suggestive of chronic hypertension, severe arteriolar and arterial intimal thickening, and presence of moderate interstitial fibrosis and tubular atrophy (30-35%).Genetic testing was positive for Kelch Like Family Member 3 (KLHL3) gene identified in heterozygous pattern, which is associated with Gordon syndrome, or Pseudo-hypoaldosteronism, type 2b. Discussion: We describe an atypical presentation of Gordon syndrome in a young adult presenting with hypokalemia (instead of hyperkalemia) and malignant hypertension leading to dialysis dependent acute kidney injury. The pathophysiology of Gordon syndrome is based on an increased activity of the sodium (Na)-potassium chloride channel. Increased Na reabsorption will induce a state of hypoaldosteronism with hyperkalemia and metabolic acidosis. It is associated with pathogenic variants of the WNK1, WNK2, CUL3 or KLHL 3 genes. Higher suspicion, diagnosis, genetic counselling and management of genetic forms of hypertension are crucial in the prevention of severe complications.