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.
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http://dx.doi.org/10.18632/aging.206216 | DOI Listing |
JAMA Netw Open
March 2025
Department of Emergency Medicine, Massachusetts General Hospital, Harvard Medical School, Boston.
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.
J Med Case Rep
March 2025
Faculty of Medicine, Saint George University of Beirut, Beirut, Lebanon.
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 PDFEur J Med Res
March 2025
Department of Gastroenterology, The Second Affiliated Hospital of Harbin Medical University, Harbin, 150086, Heilongjiang, China.
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 PDFAging (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 PDFEur J Neurol
March 2025
Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
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.
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