Related Experiment Video

Updated: Jan 30, 2026

Spinal Hernia Repair and Cauda Equina Repositioning After Lumbar Decompression under Three-Dimensional Microscopy: A Case Report and Literature Review
04:33

Spinal Hernia Repair and Cauda Equina Repositioning After Lumbar Decompression under Three-Dimensional Microscopy: A Case Report and Literature Review

Published on: November 8, 2024

879

Family hyperaldosteronism type I: a clinical case and review of literature

N M Chikladze1, O O Favorova1,2, I E Chazova1

  • 1National Medical Cardiology Research Center of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

Terapevticheskii Arkhiv
|February 1, 2019
PubMed

Insights

Glucocorticoids-remediable hyperaldosteronism, a rare genetic hypertension, causes cerebrovascular issues. Glucocorticoid therapy effectively manages aldosterone levels and blood pressure in this condition.

Area of Science:

  • Endocrinology
  • Genetics
  • Cardiology

Background:

  • Familial hyperaldosteronism type I (FHA I), also known as glucocorticoids-remediable hyperaldosteronism (GRA), is a rare monogenic disorder.
  • It is characterized by symptomatic arterial hypertension (AH) and an increased risk of cerebrovascular complications.

Observation:

  • The condition arises from a chimeric gene (CYP11B2/CYP11B1) regulated by adrenocorticotropic hormone.
  • This abstract details the first reported clinical case of FHA I diagnosed in Russia, with a 40-year follow-up.

Findings:

  • Glucocorticoid therapy normalizes blood pressure by reducing aldosterone secretion.
  • The case highlights the long-term clinical course and successful management of this rare hypertension.

Implications:

  • Early diagnosis and treatment of FHA I are crucial for preventing severe complications.
  • This case contributes to understanding the management of rare genetic forms of hypertension.

Keywords:
arterial hypertensionchimeric genefamily hyperaldosteronism type Iglucocorticoid therapy

More Related Videos

Equipment Setup and Artifact Removal for Simultaneous Electroencephalogram and Functional Magnetic Resonance Imaging for Clinical Review in Epilepsy10:23

Equipment Setup and Artifact Removal for Simultaneous Electroencephalogram and Functional Magnetic Resonance Imaging for Clinical Review in Epilepsy

Published on: June 23, 2023

2.7K
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.5K

Related Concept Videos

Protein Families02:47

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
16.8K
Protein Families02:47

Protein Families

4.4K
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
9.9K
Gene Families01:57

Gene Families

3.8K
Review and Preview01:10

Review and Preview

In statistics, several tools are used to interpret the data. Measures of central tendency represent the characteristics of the data, such as mean, median, and mode. Additionally, measures of variance like standard deviation and range are used to find the spread of data from the mean. Relative standing measures the distance between data locations. Commonly used measures of relative standings are percentile, z score, and quartiles.
Percentiles are a type of fractile that partition data into...
8.4K
Review and Preview01:13

Review and Preview

Data are individual items of information obtained from a population or sample. Data may be classified as qualitative (categorical), quantitative continuous, or quantitative discrete. Because it is not practical to measure the entire population in a study, researchers use samples to represent the population. A random sample is a representative group from the population chosen by using a method that gives each individual in the population an equal chance of being included in the sample. Random...
11.2K