Gordon Syndrome in an Elderly Adult: A Rare Presentation
- Genetic Diseases: Tubulopathies
November 03, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
- Jabbal, Iktej Singh, AdventHealth Sebring, Sebring, Florida, United States
- Kaur, Sehajpreet, AdventHealth Sebring, Sebring, Florida, United States
- Krishnan, Gaayathri, AdventHealth Sebring, Sebring, Florida, United States
- Abanilla, Fernando M., AdventHealth Sebring, Sebring, Florida, United States
Gordon syndrome (GS) is a rare autosomal dominant condition with a loss of function mutation of WNK1, WNK4, KLHL3, and CUL3 genes. This affects the thiazide-sensitive sodium-chloride channels (NCC) in the distal convoluted tubule. Being a hereditary disease, it is expected to present at a young age, but may rarely present in adults as well.
A 70-year-old male with obstructive uropathy, indwelling Foley catheter and right nephrostomy tube, CKD stage G3B/A3, and persistent atrial fibrillation (AF), presented to the ER with generalized weakness. He developed urosepsis, metabolic acidosis and AKI, for which empiric antibiotics and IV fluids with sodium bicarbonate were started. Development of fluid overload secondary to chronic heart failure prompted the addition of 40mg IV daily of furosemide. He was started on metoprolol tartrate 100 mg PO b.i.d. for AF with rapid ventricular rate. Bicarbonate drip was stopped on day 5 when levels normalized. IV furosemide had to be decreased to 20 mg daily along with addition of IV acetazolamide, due to development of contraction alkalosis on day 12. While alkalemia improved, serum potassium (K) surprisingly rose, with levels not improving even with lowering the metoprolol dosage. This paradoxical trend of K led to clinical suspicion of GS. Lo and behold, administering hydrochlorothiazide after discontinuing the previous diuretics resulted in immediate and sustained decline of K back to normal.
Hyperkalemia can be attributed to various factors, with beta-blockers, metabolic acidosis, and insulin deficiency being some of them. True hyperkalemia is rare unless there is a large K load, marked exercise, or a defect in K handling that prevents the excretion of the excess extracellular K. GS, a rare cause of hypertension and hyperkalemia, can be missed, especially in adults, without vigilance for electrolytes and acid-base abnormalities. It should therefore be included in the differential diagnosis of patients presenting with unexplained hyperkalemia.