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Renal Tubule and Collecting Duct

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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):
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Adrenal Gland Disorders

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...

Hormonal Regulation

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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...

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Related Experiment Video

Updated: May 22, 2026

A Novel Method: Super-selective Adrenal Venous Sampling

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

Aldosterone synthase deficiency type II with hypospadias.

Z Gucev¹, V Tasic, N Pop-Jordanova

¹Department of Endocrinology, University Childrens Hospital Skopje, Vodnjanska 17, 1000 Skopje, Macedonia. gucevz@gmail.com

Indian Pediatrics

|May 9, 2012

Summary

Aldosterone synthase deficiency (ASD) type II was identified in an infant presenting with severe dehydration. Genetic analysis confirmed a novel CYP11B2 mutation, expanding the known clinical spectrum of this rare condition.

Area of Science:

Endocrinology
Genetics
Pediatric Medicine

Background:

Aldosterone synthase deficiency (ASD) is a rare genetic disorder affecting cortisol and aldosterone biosynthesis.
ASD type II is characterized by specific enzymatic defects leading to distinct biochemical profiles.

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