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Challenges in diagnosing and treating Liddle syndrome in resource-limited settings: A case report from Indonesia.
Narra J
December 2024
Department of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Liddle syndrome, a rare form of monogenic hypertension, poses significant diagnostic and therapeutic challenges due to its phenotypic variability and the need for genetic testing. The rarity of the condition, coupled with the limited availability of first-line treatments such as epithelial sodium channel (ENaC) blockers, makes this case report particularly urgent and novel, highlighting alternative management strategies in resource-limited settings. The aim of this case report was to present the diagnostic challenges, therapeutic strategies, and clinical outcomes of a patient with Liddle syndrome who did not have access to ENaC blockers, emphasizing the importance of early recognition and personalized treatment.
View Article and Find Full Text PDFA Case of Primary Aldosteronism Masquerading as Bartter and Gitelman Syndromes.
Cureus
December 2024
Department of Medicine, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh, IND.
Primary aldosteronism (PA) is a common cause of secondary hypertension, with familial hyperaldosteronism (FH) contributing to a lesser number of cases. FH type IV, a rare subtype, has hardly been reported as a subtype of PA cases. We present a case of a 27-year-old female who presented to the emergency department with circumoral tingling and numbness.
View Article and Find Full Text PDFGitelman syndrome patient managed with amiloride during pregnancy and lactation.
BMC Nephrol
November 2024
Nephrology Division, Department of Internal Medicine, University of Utah Health, Salt Lake City, USA.
Article Synopsis
- Gitelman Syndrome (GS) is a rare genetic disorder that leads to low potassium and magnesium levels, alongside other metabolic issues, and presents unique challenges in managing these conditions during pregnancy.
- A case study of a 20-year-old woman with GS highlights the use of amiloride, a medication typically used for GS, to successfully manage her persistent low potassium levels during pregnancy and lactation.
- The treatment with amiloride effectively controlled her symptoms without causing any harmful effects on her newborn, suggesting potential safety for the mother and child under careful management.
Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship - a case report.
BMC Pediatr
October 2024
Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, CA, US.
Background: Late-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and clinical course following chemotherapy treatment during childhood.
Case Presentation: A 10-year-old boy, diagnosed with hepatoblastoma at age 2 and treated with cisplatin and epirubicin, presented with polyuria, polydipsia, failure to thrive, and electrolyte imbalances.
Optimizing Continuous Renal Replacement Therapy with Regional Citrate Anticoagulation: Insights from the ORCA Trial-A Retrospective Study on 10 Years of Practice.
Life (Basel)
October 2024
The Departments of Critical Care Medicine, Antwerp University Hospital, 2650 Edegem, Belgium.
(1) Background: Citrate is preferred in continuous renal replacement therapy (CRRT) for critically ill patients because it prolongs filter life and reduces bleeding risks compared to unfractionated heparin (UFH). However, regional citrate anticoagulation (RCA) can lead to acid-base disturbances, citrate accumulation, and overload. This study compares the safety and efficacy of citrate-based CRRT with UFH and no anticoagulation (NA) in acute kidney injury (AKI) patients.
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