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

Aging (Albany NY)

Division of Nephrology, Department of Internal Medicine, National Defense Medical Center, Taipei 104, Taiwan.

Published: March 2025

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 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.

Download full-text PDF

Source
http://dx.doi.org/10.18632/aging.206216DOI Listing

Publication Analysis

Top Keywords

recurrent falls
16
older adults
12
gitelman syndrome
8
potassium magnesium
8
bilateral knees
8
high urine
8
recurrent
4
falls presentations
4
presentations gitelman
4
syndrome octogenarian
4

Similar Publications

Importance: Given that older adults are at high risk for adverse drug events (ADEs), many geriatric medication programs have aimed to optimize safe ordering, prescribing, and deprescribing practices.

Objective: To identify emergency department (ED)-based geriatric medication programs that are associated with reductions in potentially inappropriate medications (PIMs) and ADEs.

Data Sources: A systematic search of Scopus, Embase, PubMed, PsycInfo, ProQuest Central, CINAHL, AgeLine, and Cochrane Library was conducted on February 14, 2024, with no date limits applied.

View Article and Find Full Text PDF

Introduction: Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene). The resulting condition is dictated by the severity of the involved mutation; for instance, Duchenne muscular dystrophy presents in early childhood with rapid progression, whereas Becker muscular dystrophy exhibits a milder, later onset with slower progression. In this report, we present the case of a young patient with clinical symptoms of a dystrophinopathy, whose genetic analysis yielded two previously undescribed mutations within the dystrophin gene.

View Article and Find Full Text PDF

The advantage of endoscopic submucosal dissection (ESD) is the ability to achieve high R0 resection and a low local recurrence rate (Oyama in Gastrointest Endosc Clin N Am 24:201-212, 2014;Cai et al. in Gastrointest Endosc 88:160-167, 2018;). Endoscopic full-thickness resection (EFTR) compensates for the deficiency of ESD, and it can treat more ailments (Aslanian et al.

View Article and Find Full Text PDF

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

Aging (Albany NY)

March 2025

Division of Nephrology, Department of Internal Medicine, National Defense Medical Center, Taipei 104, Taiwan.

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.

View Article and Find Full Text PDF

Background: Hereditary neuromuscular disorders (NMD) are associated with compromised bone health and elevated fracture risk, though data are largely lacking.

Objective: This study aimed to assess the prevalence and risk factors of fractures in hereditary NMD.

Methods: We conducted a retrospective study in a cohort of adult patients with diverse hereditary NMD, using data from electronic medical records.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!