Related Experiment Video
Updated: Oct 8, 2025
06:08
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
23.7K
Diagnostic and management considerations in pseudohypoaldosteronism type 1b
Jelte Kelchtermans1,2, Sara E Pinney2,3, Jacqueline M M Leonard4
1Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA kelchtermj@chop.edu.
BMJ Case Reports
|January 4, 2022
Summary
Pseudohypoaldosteronism type 1B, a rare disorder affecting sodium channels, caused a neonate
Area of Science:
- Nephrology
- Genetics
- Pediatric Cardiology
Background:
- Pseudohypoaldosteronism type 1B is a rare autosomal recessive disorder.
- It results from impaired function of epithelial sodium channels (ENaCs).
Observation:
- A neonate presented with cardiogenic shock and cardiac arrest.
- This was secondary to severe hyperkalemia.
Findings:
- Genetic analysis identified a novel homozygous variant in the SCNN1A gene.
- This variant is associated with the observed clinical presentation.
Implications:
- This case highlights the critical role of ENaCs in cardiovascular stability in neonates.
- Understanding SCNN1A variants is crucial for diagnosing and managing this rare disorder.
- Pulmonary ENaC diversity may influence disease presentation and outcomes.
Related Concept Videos
01:28Antihypertensive Drugs: Potassium-Sparing Diuretics
868
Liddle syndrome is a genetically inherited form of hypertension characterized by the overactivity of epithelial sodium channels in the nephron, the functional unit of the kidney. This heightened activity leads to increased sodium reabsorption and excessive excretion of potassium. To counteract this, potassium-sparing diuretics such as amiloride are used. They function by blocking these sodium channels, thereby reducing the influx of sodium into the epithelial cells and minimizing the loss of...
868
01:26Nephrotic Syndrome II : Assessment and Medical Management
35
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
35
01:28Chronic Kidney Disease III: Interprofessional Care
97
Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
97
01:24Renal Tubule and Collecting Duct
1.7K
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
1.7K
01:25Antihypertensive Drugs: Direct Renin Inhibitors
883
The renin-angiotensin-aldosterone system (RAAS) is an intricate physiological pathway involving numerous enzymes and hormones, including renin, angiotensin-converting enzyme (ACE), angiotensin I and II, and aldosterone. Imbalances within this system increase the production of angiotensin II and aldosterone. Increased angiotensin II levels promote vasoconstriction and blood pressure elevation. Concurrently, higher aldosterone levels stimulate sodium and water reabsorption in the kidneys,...
883
01:26Heart Failure Drugs: Inhibitors of Renin-Angiotensin System
553
The activation of the sympathetic nervous system and the renin-angiotensin-aldosterone system (RAAS) contributes to cardiac remodeling, and inhibiting the RAAS is a pharmacological target in heart failure management. As a result, neurohumoral modulation is a crucial treatment principle for managing heart failure. This approach involves using medications like ACE inhibitors (ACEIs), angiotensin receptor blockers (ARBs), β-blockers, mineralocorticoid receptor antagonists (MRAs), and neutral...
553