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Related Concept Videos

Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Acute Coronary Syndrome I: Introduction01:30

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Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
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Irritable Bowel Syndrome I: Introduction01:17

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Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
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Restless Leg Syndrome and Night Terrors01:27

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Restless Leg Syndrome (RLS), also known as Willis-Ekbom disease, is a neurological disorder characterized by an uncontrollable urge to move the legs due to uncomfortable sensations. These sensations typically occur during periods of rest or inactivity, particularly when lying down or sitting, and can severely disrupt sleep.
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Acute Coronary Syndrome V: Nursing Management01:26

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Nursing Assessment:Nursing management of acute coronary syndrome (ACS) involves taking the patient's history, focusing on primary complaints such as chest pain, dyspnea, and excessive sweating (diaphoresis), as well as other symptoms like back or jaw pain, nausea, vomiting, palpitations, dizziness, and fatigue. The nurse also reviews the patient's history of cardiac events, risk factors such as hypertension, diabetes, smoking, family history, and current medications.In the objective assessment,...
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Nephrotic Syndrome II : Assessment and Medical Management01:26

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IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
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Hypertriglyceridemia thalassemia syndrome.

Mili Jain1, Wahid Ali2, Brijendra Bahadur Singh2

  • 1Assistant Professor, Department of Pathology, King George's Medical University, Lucknow 226003, India, Phone: +9793546090, Fax: +0522-2257580,

Journal of Pediatric Endocrinology & Metabolism : JPEM
|June 15, 2018
PubMed
Summary

Hypertriglyceridemia thalassemia syndrome, a rare condition, links high triglyceride levels with thalassemia major. Transfusion therapy effectively reduced triglyceride levels in an infant patient.

Keywords:
anemiahypertriglyceridemiathalassemia

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Area of Science:

  • Hematology
  • Metabolic Disorders
  • Genetics

Background:

  • Hypertriglyceridemia thalassemia syndrome is a rare disorder with an unclear cause.
  • Thalassemia major is a genetic blood disorder requiring lifelong treatment.

Observation:

  • An 8-month-old female with thalassemia major presented with significantly elevated triglyceride levels.
  • Clinical presentation included typical thalassemia symptoms and unique white plasma discoloration.

Findings:

  • Familial hypertriglyceridemia and secondary causes were excluded, confirming the syndrome.
  • High triglyceride levels in this syndrome are linked to oxidative stress and increased risks.

Implications:

  • Early diagnosis of hypertriglyceridemia thalassemia syndrome is crucial for patient management.
  • Transfusion therapy demonstrated efficacy in managing high triglyceride levels in affected infants.
  • Understanding the pathogenetic link is essential for developing targeted treatments.