Related Experiment Video
Updated: May 15, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A case of Liddle Syndrome
Rajiv Sinha1, Indrayani Salphale, Indira Agarwal
1Pediatric Nephrology Division, Department of Pediatrics Unit II, Christian Medical College, Vellore, 632 004, South India.
Indian Journal of Pediatrics
|January 12, 2013
Summary
Pediatric hypertension, often caused by kidney issues, can rarely stem from genetic conditions like Liddle Syndrome. Early diagnosis of this rare, familial hypertension is crucial for better outcomes in children.
Area of Science:
- Pediatric Nephrology
- Clinical Genetics
- Endocrinology
Background:
- Pediatric hypertension is frequently secondary to identifiable causes, predominantly renal.
- Hypertension with low Plasma Rennin Activity (PRA) is rare but significant due to its familial nature and association with monogenic disorders.
- Understanding the genetic basis of hypertension is critical for familial risk assessment.
Observation:
- The authors present a case of a child with hypertension and low PRA.
- The condition was diagnosed as Liddle Syndrome, an autosomal dominant hereditary hypertension.
- This highlights the importance of considering genetic causes in pediatric hypertension.
Findings:
- Liddle Syndrome is a monogenic disorder causing hereditary hypertension.
- Low PRA is a key indicator in diagnosing specific genetic forms of hypertension.
- The case underscores the genetic implications of familial hypertension.
Implications:
- Early detection of Liddle Syndrome in children is vital.
- Appropriate management can significantly reduce long-term morbidity and mortality.
- Genetic counseling is important for families with hereditary hypertension.
Related Concept Videos
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:28Antihypertensive Drugs: Potassium-Sparing Diuretics
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...
01:51Lampbrush Chromosomes
In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops resemble the...
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops resemble the...
01:43Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.