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1.
BMC Nephrol ; 25(1): 282, 2024 Aug 30.
Article in English | MEDLINE | ID: mdl-39215244

ABSTRACT

This article provides a comprehensive overview of electrolyte and water homeostasis in pediatric patients, focusing on some of the common serum electrolyte abnormalities encountered in clinical practice. Understanding pathophysiology, taking a detailed history, performing comprehensive physical examinations, and ordering basic laboratory investigations are essential for the timely proper management of these conditions. We will discuss the pathophysiology, clinical manifestations, diagnostic approaches, and treatment strategies for each electrolyte disorder. This article aims to enhance the clinical approach to pediatric patients with electrolyte imbalance-related emergencies, ultimately improving patient outcomes.Trial registration This manuscript does not include a clinical trial; instead, it provides an updated review of literature.


Subject(s)
Emergencies , Water-Electrolyte Imbalance , Humans , Water-Electrolyte Imbalance/therapy , Child , Hyponatremia/therapy , Hyponatremia/etiology , Hyponatremia/diagnosis , Hypokalemia/therapy , Hypokalemia/diagnosis , Hypokalemia/blood , Hypokalemia/etiology , Hyperkalemia/therapy , Hyperkalemia/diagnosis , Hyperkalemia/blood , Hyperkalemia/etiology , Hypernatremia/therapy , Hypernatremia/diagnosis , Hypernatremia/etiology , Hypernatremia/physiopathology , Hypercalcemia/therapy , Hypercalcemia/blood , Hypercalcemia/diagnosis , Hypercalcemia/etiology , Hypocalcemia/diagnosis , Hypocalcemia/etiology , Hypocalcemia/therapy , Electrolytes/blood , Acid-Base Imbalance/diagnosis , Acid-Base Imbalance/therapy , Acid-Base Imbalance/physiopathology , Water-Electrolyte Balance/physiology , Acidosis/diagnosis , Acidosis/blood , Acidosis/therapy
2.
BMC Anesthesiol ; 24(1): 291, 2024 Aug 14.
Article in English | MEDLINE | ID: mdl-39143512

ABSTRACT

Coffin-Lowry Syndrome (CLS) is a rare X-linked genetic disorder characterized by growth delays, facial dysmorphisms, and intellectual disabilities. Currently, there are limited published case reports regarding the anesthetic management of patients with CLS. Managing anesthesia for CLS patients can be complex due to difficult airway management. In this case report, we present a patient with CLS who underwent surgical intervention, highlighting the anesthetic considerations encountered throughout the perioperative period. We aim to summarize the difficulties involved in anesthetic management of rare conditions like CLS to improve clinical outcomes for affected individuals.


Subject(s)
Airway Management , Coffin-Lowry Syndrome , Humans , Airway Management/methods , Coffin-Lowry Syndrome/complications , Male , Anesthesia/methods
3.
Am J Physiol Endocrinol Metab ; 326(6): E791-E806, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38630049

ABSTRACT

Diabetic kidney disease (DKD) is a leading cause of chronic kidney disease and affects approximately 40% of individuals with diabetes . Cases of DKD continue to rise globally as the prevalence of diabetes mellitus increases, with an estimated 415 million people living with diabetes in 2015 and a projected 642 million by 2040. DKD is associated with significant morbidity and mortality, representing 34% and 36% of all chronic kidney disease deaths in men and women, respectively. Common comorbidities including hypertension and ageing-related nephron loss further complicate disease diagnosis and progression. The progression of DKD involves several mechanisms including glomerular endothelial cell dysfunction, inflammation, and fibrosis. Targeting these mechanisms has formed the basis of several therapeutic agents. Renin-angiotensin-aldosterone system (RAAS) blockers, specifically angiotensin receptor blockers (ARBs), demonstrate significant reductions in macroalbuminuria. Sodium-glucose transporter type 2 (SGLT-2) inhibitors demonstrate kidney protection independent of diabetes control while also decreasing the incidence of cardiovascular events. Emerging agents including glucagon-like peptide 1 (GLP-1) agonists, anti-inflammatory agents like bardoxolone, and mineralocorticoid receptor antagonists show promise in mitigating DKD progression. Many novel therapies including monoclonal antibodies CSL346, lixudebart, and tozorakimab; mesenchymal stem/stromal cell infusion; and cannabinoid-1 receptor inverse agonism via INV-202 are currently in clinical trials and present opportunities for further drug development.


Subject(s)
Diabetic Nephropathies , Drug Development , Humans , Diabetic Nephropathies/drug therapy , Angiotensin Receptor Antagonists/therapeutic use , Sodium-Glucose Transporter 2 Inhibitors/therapeutic use , Therapies, Investigational/trends , Therapies, Investigational/methods , Mineralocorticoid Receptor Antagonists/therapeutic use , Renin-Angiotensin System/drug effects , Hypoglycemic Agents/therapeutic use
4.
Genes (Basel) ; 15(1)2024 01 11.
Article in English | MEDLINE | ID: mdl-38254980

ABSTRACT

Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome, calyceal diverticula, and more. We plan to take a thorough look into the genetic involvement and clinical sequalae of a number of RCDs with the goal of helping to guide diagnosis, counseling, and treatment.


Subject(s)
Polycystic Kidney Diseases , Humans , Adult , Kidney , Genes, Regulator , Transcription Factors , Inheritance Patterns
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