Recurrent falls as the presentations of Gitelman syndrome in an octogenarian

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<sup>+</sup>) and magnesium (Mg<sup>++</sup>) 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<sup>+</sup> 2.2 mmol/L) with metabolic alkalosis and high urine K<sup>+</sup> 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 <i>SLC12A3</i> 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.

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Journal
Aging
Published
2025-03-04
DOI
https://doi.org/10.18632/aging.206216
Citations
1
Primary Topic
Ion Transport and Channel Regulation
Type
article
Field-Weighted Citation Impact
0.81
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article

Recurrent falls as the presentations of Gitelman syndrome in an octogenarian

Shih‐Hua Lin, Chia‐Ter Chao, Shang‐Yin Wu, Chien‐Yao Sun
1 citations
Aging
Ion Transport and Channel Regulation
0.81
article

Recurrent falls as the presentations of Gitelman syndrome in an octogenarian

Shih‐Hua Lin, Chia‐Ter Chao, Shang‐Yin Wu, Chien‐Yao Sun
article en
1 citations

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<sup>+</sup>) and magnesium (Mg<sup>++</sup>) 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<sup>+</sup> 2.2 mmol/L) with metabolic alkalosis and high urine K<sup>+</sup> 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 <i>SLC12A3</i> 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.

AgingVol. 17(3)
National Taiwan University (TW), University of California, San Francisco (US), Min Sheng General Hospital (TW), National Taiwan University Hospital (TW), National Cheng Kung University Hospital (TW), National Defense Medical Center (TW), National Cheng Kung University (TW)
Openalex Percentile: Top 30%
Ion Transport and Channel Regulation
0.81
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