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Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

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.
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Genomic Imprinting and Inheritance

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.
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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...
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Giardiasis is a globally prevalent intestinal infection caused by the protozoan parasite Giardia duodenalis (also known as G. lamblia or G. intestinalis). This flagellated protozoan is the most frequently identified intestinal parasite in the United States and worldwide. Transmission primarily occurs via the fecal-oral route, with infection arising from ingestion of water or food contaminated with cysts. Individuals in low-resource settings, international travelers, outdoor enthusiasts, daycare...
Pleiotropy01:33

Pleiotropy

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,...
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Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...

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Robotic Duodenal Sleeve Resection for Gastrointestinal Stromal Tumor with Rare Exon 8 KIT Mutation Following Neoadjuvant Imatinib
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Acquired gitelman syndrome.

Yong Kyun Kim1, Ho Cheol Song, Yong-Soo Kim

  • 1Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea.

Electrolyte & Blood Pressure : E & BP
|April 7, 2011
PubMed
Summary

Acquired Gitelman syndrome, linked to autoimmune diseases like Sjögren's syndrome, involves auto-antibodies against the thiazide-sensitive NaCl cotransporter (NCCT). Treatment includes supplements and prednisone, highlighting its importance in differential diagnosis.

Keywords:
Gitelman syndromeSjögren's syndromethiazide-sensitive NaCl cotransporter

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Area of Science:

  • Nephrology
  • Autoimmunology
  • Genetics

Background:

  • Acquired renal tubular disorders often accompany autoimmune diseases.
  • Gitelman syndrome, a genetic disorder caused by SLC12A3 mutations, affects the thiazide-sensitive NaCl cotransporter (NCCT).
  • Acquired Gitelman syndrome is frequently associated with Sjögren's syndrome.

Purpose of the Study:

  • To explore the characteristics and mechanisms of acquired Gitelman syndrome.
  • To emphasize the role of auto-antibodies to NCCT in acquired Gitelman syndrome.
  • To highlight the diagnostic considerations for acquired Gitelman syndrome in autoimmune disease patients.

Main Methods:

  • Literature review of acquired Gitelman syndrome cases.
  • Analysis of clinical presentations and auto-antibody findings.
  • Evaluation of treatment responses.

Main Results:

  • Acquired Gitelman syndrome is linked to autoimmune conditions, particularly Sjögren's syndrome.
  • Circulating auto-antibodies targeting NCCT are implicated in its pathogenesis.
  • Treatment with potassium, magnesium, and prednisone showed efficacy in some patients.

Conclusions:

  • Acquired Gitelman syndrome necessitates inclusion in the differential diagnosis for renal issues in autoimmune disease patients.
  • Understanding the autoimmune basis of acquired Gitelman syndrome is crucial for appropriate management.
  • Early recognition and treatment can improve patient outcomes.