Recurrent falls as the presentations of Gitelman syndrome in an octogenarian.

Abstract

Gitelman syndrome (GS) is the most common hereditary renal tubular disorder, with a higher carrier frequency among Asians often overlooked in older adults. Electrolyte imbalances, such as those seen in GS, are crucial considerations for older adults experiencing recurrent falls. We described an 83-year-old diabetic female on metformin, who was admitted due to recurrent falls with the preceding dizziness and palpitations when standing. She had the history of chronic hypokalemia and hypomagnesemia on regular potassium (K⁺) and magnesium (Mg⁺⁺) supplementation for 10 years and gout-like arthritis episodes over her shoulder and ankle joints. Her consciousness was alert with normal blood pressure but reduced tendon reflex over bilateral knees. Pertinent laboratory findings included hypokalemic (K⁺ 2.2 mmol/L) with metabolic alkalosis and high urine K⁺ excretion, hypomagnesemia (1.1 mg/dl) with hypermagnesuria, but hypocalciuria (UCa/Cr ratio 0.01 mg/mg), high urine salt excretion, and hyperreninemia. X-ray of bilateral knees and shoulders demonstrated typical chondrocalcinosis with dense calcification band in the joint space. Targeted Sanger sequencing confirmed GS, identifying a biallelic homozygous deletion mutation (2881-2 delAG) in the exon 24 of SLC12A3 gene as the potential causes of recurrent falls. After aggressive electrolytes correction, her potassium and magnesium levels stabilized, and the patient did not experience further falls. This case, probably the oldest documented patient with GS emphasizes the importance of recognizing atypical presentations of GS in older adults. Careful evaluation and management of electrolyte disturbances in this population may prevent fall recurrence and complications.