Related Experiment Video
Updated: May 2, 2026
06:48
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
2.0K
Gitelman's syndrome: Rare presentation with growth retardation
1Department of Pediatrics, Gajraraja Medical College and Kamla Raja Hospital, Gwalior, Madhya Pradesh, India.
Indian Journal of Nephrology
|February 28, 2014
Summary
Gitelman syndrome, a genetic kidney disorder, typically appears in adolescence. This case highlights a rare, early-onset presentation in a four-year-old boy with significant growth retardation.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Gitelman syndrome is an autosomal recessive kidney disorder.
- It is caused by mutations in the SLC12A3 gene, affecting the sodium-chloride co-transporter in the distal convoluted tubule.
- Commonly presents in adolescence or adulthood without hypertension.
Observation:
- A four-year-old boy presented with growth retardation.
- Clinical and biochemical findings were consistent with Gitelman syndrome.
Findings:
- This case represents a rare, early-onset manifestation of Gitelman syndrome.
- Growth retardation was a prominent feature, atypical for this condition.
Implications:
- Highlights the importance of considering Gitelman syndrome in pediatric patients with unexplained growth failure.
- Suggests potential genotype-phenotype variations influencing disease presentation and severity.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
7.9K
12:49Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
13.1K
Related Concept Videos
01:20Inborn Errors of Metabolism
1.1K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
01:27Signs of Puberty
2.1K
Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...
2.1K
01:27Glucose Transporters
15.2K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
15.2K
01:10Nature and Nurture
19.4K
Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
19.4K
02:30Genomic Imprinting and Inheritance
30.2K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
30.2K
02:41Lethal Alleles
11.3K
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...
11.3K