Wilson's Disease and Fluoride Overview

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Questions and Answers

What is the primary cause of Wilson's Disease?

Genetic mutations in the ceruloplasmin gene

Infection of the liver by hepatitis viruses

Impaired biliary copper excretion (correct)

Excessive dietary intake of copper

Which of the following are common presentations of Wilson's Disease?

Hyperactivity in children.

Sclerosis and hepatitis. (correct)

Rapid weight gain in adults.

Kaiser-Fleischer rings in the cornea (correct)

What is the effect of fluoride in the context of dental health?

Stimulates bone formation and prevents dental caries (correct)

Causes rapid tooth decay

Inhibits the growth of oral bacteria

Increases oral cancer risk

What condition may result from severe iodine deficiency?

Cretinism and mental retardation Signup and view all the answers

Which of the following is a potential consequence of fluoride toxicity?

Dental fluorosis Signup and view all the answers

What are common sources of manganese in the diet?

Whole grains, nuts, leafy vegetables, soy, and teas Signup and view all the answers

Which of the following symptoms is NOT associated with manganese toxicity?

Skin hyperpigmentation Signup and view all the answers

What condition is indicated by iron deficiency anemia?

Low hemoglobin levels Signup and view all the answers

How does excessive free iron in the body contribute to health issues?

By catalyzing toxic free radicals and contributing to atherosclerosis Signup and view all the answers

Which of the following is a sign of manganese deficiency?

Dermatitis and color changes in hair Signup and view all the answers

What is the primary means of regulating iron in the body?

Absorption from the intestine Signup and view all the answers

Which group is at the highest risk for iron deficiency?

Pregnant women and young children Signup and view all the answers

What disorder is characterized by iron overload without tissue damage?

Hemosiderosis Signup and view all the answers

Which of the following conditions is a genetic cause of trace element deficiency?

Menkes’ kinky hair syndrome Signup and view all the answers

Which of the following methodologies is commonly used for trace and toxic metal analysis?

Atomic Absorption Spectrometry Signup and view all the answers

What is a potential consequence of chronic manganese toxicity?

Symptoms resembling Parkinson's disease Signup and view all the answers

Which trace element plays a significant role in hemoglobin and myoglobin?

Iron Signup and view all the answers

What type of iron is found in the plasma, bound to transferrin?

3 - 5 mg of iron Signup and view all the answers

Which is a critical component of inductively coupled plasma mass spectrometry (ICP-MS)?

Ionized gas (argon) Signup and view all the answers

Study Notes

Wilson's Disease

Autosomal recessive genetic disorder causing impaired biliary copper excretion
Presents typically between ages 6 and 40
Excess copper deposits in liver and brain basal nuclei, leading to sclerosis and hepatitis
May affect kidneys, cornea, and brain
Kayser-Fleischer rings (green-brown discoloration) in cornea due to copper deposition

Fluoride

Used to prevent dental caries and minimize bone loss
Stimulates bone formation
Drinking water fluoridation decreased tooth decay incidence by over 60% in many US populations

Fluoride Toxicity

Calcification of soft tissues
Dental fluorosis (unsightly mottling of dental enamel) in children, possibly from fluoride-containing toothpaste

Iodine

Dietary iodine (ingested as iodide) is crucial for thyroid hormone synthesis
Transported to thyroid follicles, concentrated significantly
Thyroid Stimulating Hormone (TSH) stimulates iodine trapping and incorporation into tyronines

Iodine Deficiency

Leads to inadequate thyroid hormone and hypothyroidism
Possible consequences:
- Mental retardation and cretinism (congenital hypothyroidism in children)
- Myxedema (hypothyroidism in adults with mental status changes and hypotension)
- Goiter development

Manganese

Component of several metalloenzymes (e.g., superoxide dismutase, pyruvate carboxylase, arginase, glycosyl transferases)
Found in high concentrations in fat and bone
Dietary sources: whole grains, nuts, leafy vegetables, soy, tea

Manganese Deficiency

Low plasma cholesterol
Impaired glucose tolerance
Skeletal abnormalities
Dermatitis
Hair color changes
Reduced blood clotting unresponsive to vitamin K

Manganese Toxicity

Nausea, vomiting, headache, disorientation, memory loss, anxiety, compulsive laughing/crying
Chronic toxicity resembles Parkinson's disease (akinesia, rigidity, tremors, mask-like faces)
Brain deposition seen in biliary atresia in children
"Manganese Madness" (Locura Manganica) described in Chilean manganese miners with acute manganese aerosol contamination

Iron

Ferrous (Fe2+) and ferric (Fe3+) forms
Fourth most abundant element in Earth's crust; abundant transition metal
No excretory system for excess iron
Primarily regulated by intestinal iron absorption
Lost primarily through desquamation and red cell loss
Women lose ~20-40 mg iron per menstrual cycle
Excess free iron catalyzes toxic free radical formation, contributing to lipid peroxidation, atherosclerosis, DNA damage, and carcinogenesis
Body iron distribution:
- ~2-2.5g in hemoglobin (mostly in RBCs and precursors)
- ~130mg in myoglobin
- ~8mg in enzymes (e.g., peroxidases, cytochromes, Krebs cycle enzymes)
Stored as ferritin or hemosiderin (bone marrow, spleen, liver)
Hemosiderin formed when ferritin breaks down
~3-5mg in plasma (bound to transferrin, albumin, free hemoglobin)

Iron Deficiency

Affects 15% of the global population
At-risk groups: pregnant women, young children, adolescents, women of reproductive age
Caused by increased blood loss, decreased intake, or decreased release from ferritin
IDA (Iron Deficiency Anemia): most common anemia globally

Iron Toxicity

Hemochromatosis: iron overload with or without tissue damage; associated with hereditary hemochromatosis, leading to increased iron absorption
Affects liver function and often leads to hyperpigmentation of the skin
Hemosiderosis: iron overload without demonstrable tissue damage

Lab Evaluation of Iron Metabolism Disorders

Evaluated using hematocrit/hemoglobin, RBC count/indices
Total iron level
Percent saturation
Transferrin
Ferritin
TIBC (Total Iron-binding Capacity)

Precautionary Measures (Trace Element Lab)

Separate laboratory room
Rigorous contamination control
Sticky mats, non-shedding ceilings, controlled airflow
Disposable booties
Particulate monitoring equipment

Causes of Trace Element Deficiencies

Decreased intake (nutritional)
Total parenteral nutrition (inadequate supplementation)
Increased utilization (increased catabolism)
Interactions between trace elements (e.g., zinc and copper) or with other nutrients (e.g., zinc and vitamin C)
Increased excretion
Disease states (insufficient intestinal absorption, malabsorption syndromes, intestinal resection)
Genetic mutations affecting element absorption (e.g., Menkes' kinky hair syndrome (copper), congenital atransferrinemia (iron), acrodermatitis enteropathica (zinc), xanthine & sulfite oxidase deficiencies (molybdenum))

Lab Methodologies for Trace Element Analysis

Atomic Absorption Spectrometry (AAS):
- Flame AAS (copper, iron, zinc; LOQ in ppm)
- GFAAS (graphite furnace; selenium, cadmium, lead; broader application clinically)
- Analyzes absorption of optical radiation by free atoms in gas phase
Inductively Coupled Plasma Mass Spectrometry (ICP-MS): Highly sensitive, for multiple elements in a single run, uses ionized gas (argon), internal standard (Yttrium)
Atomic Emission Spectroscopy (AES):
- Uses flame or inductively coupled plasma source
- Liquid sample converted to aerosol, atomized, excited, measured based on emitted radiation; Photographic film (obsolete), modern detectors (photomultipliers, arrays)
Elemental Speciation: considers chemical form; Example: arsenic forms (e.g., arsenobetaine (nontoxic), methylated forms (intermediate toxicity), inorganic arsenic (toxic)) - crucial for toxicity assessment; Hyphenated techniques can determine elemental species.

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Description

This quiz covers key concepts in Wilson's disease, fluoride, fluoride toxicity, and the role of iodine in health. Explore how these substances affect the human body, including their chemical interactions and clinical implications. Test your knowledge on their significance in medical science.