Medical Quiz on Wilson's Disease, Fluoride, and Iodine

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the primary cause of Wilson's disease?

Overproduction of ceruloplasmin

Excessive exposure to fluoride

Impaired biliary copper excretion (correct)

Inadequate dietary iodine

Which symptom is specifically associated with Wilson's disease?

Kaiser-Fleischer rings (correct)

Mental retardation

Myxedema

Dental fluorosis

What is the primary effect of fluoride on dental health?

Directly increases the level of calcium in teeth

Inhibits soft tissue calcification

Stimulates bone formation and reduces tooth decay (correct)

Causes mottling of dental enamel

What condition may result from iodine deficiency in adults?

Myxedema Signup and view all the answers

What role does TSH play in iodine metabolism?

Stimulates trapping of iodine in the thyroid gland Signup and view all the answers

What are the possible consequences of manganese deficiency?

Skeletal abnormalities, dermatitis, and color changes in hair Signup and view all the answers

What condition is specifically characterized by chronic manganese toxicity?

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

What method is most commonly used for trace and toxic metal analysis?

Atomic Absorption Spectrometry Signup and view all the answers

Which of the following is NOT a food source of manganese?

Red meat Signup and view all the answers

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

Absorption of iron from the intestine Signup and view all the answers

What is a common cause of iron deficiency anemia?

Increased blood loss or decreased iron intake Signup and view all the answers

What is 'Locura Manganica' associated with?

Manganese inhalation in miners Signup and view all the answers

What are the two forms of stored iron in the body?

Ferritin and hemosiderin Signup and view all the answers

What condition results from long-term iron overload that affects liver function?

Hemochromatosis with tissue damage Signup and view all the answers

What are the four critical components of Atomic Absorption Spectrometry?

Source, atomizer, monochromator, and detector Signup and view all the answers

Which trace element's deficiency can lead to acrodermatitis enteropathica?

Zinc Signup and view all the answers

Iron is primarily lost from the body through which mechanism?

Desquamation and red cell loss Signup and view all the answers

What adverse effect does excess free iron have in the body?

Formation of toxic free radicals Signup and view all the answers

Which trace elements interact negatively with one another affecting absorption?

Zinc and copper Signup and view all the answers

What is the main analytical procedure in GFAAS?

Optical radiation absorption by free atoms Signup and view all the answers

Study Notes

Wilson's Disease

Autosomal recessive genetic disorder
Impaired biliary copper excretion
Presents typically between ages 6 and 40
Excess copper deposited in liver and brain basal nuclei, causing sclerosis and hepatitis
Kidney, cornea, and brain abnormalities possible
Kayser-Fleischer rings (green-brown discoloration) in cornea from copper deposition

Fluoride

Used to prevent dental caries and minimize bone loss
Stimulates bone formation
Drinking water fluoridation reduces tooth decay by over 60% in the US
Primarily excreted through kidneys

Fluoride Toxicity

Calcification of soft tissues
Dental fluorosis (unsightly enamel mottling) in children's teeth from excessive fluoride intake

Iodine

Dietary iodine (ingested as iodide) is fundamental for thyroid hormone synthesis
Transported to thyroid follicles, concentrated significantly
Thyroid-stimulating hormone (TSH) stimulates iodine trapping and incorporation into thyronines

Iodine Deficiency

Leads to inadequate thyroid hormone and hypothyroidism
Results in:
- Mental retardation and cretinism (congenital hypothyroidism in children)
- Myxedema (hypothyroidism in adults), affecting mental status and blood pressure
- Goiter development

Manganese

Component of metalloenzymes (e.g., superoxide dismutase, pyruvate carboxylase)
Found in high levels in fat and bone
Food sources include whole grains, nuts, leafy vegetables, soy, and tea

Manganese Deficiency

Lowers plasma cholesterol
Impairs glucose tolerance
Causes skeletal abnormalities, dermatitis, hair color changes, and reduced blood clotting (not responsive to vitamin K)

Manganese Toxicity

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

Iron

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

Iron Deficiency

Affects ~15% of the global population
Those at risk: pregnant women, young children, adolescents, women of reproductive age
Caused by increased blood loss, decreased intake, or decreased release from ferritin
Iron-deficiency anemia (IDA) is the most common anemia worldwide

Iron Toxicity

Hemochromatosis: iron overload with or without tissue damage, often due to hereditary hemochromatosis (abnormally high iron absorption) affecting liver function and skin hyperpigmentation
Hemosiderosis: iron overload without tissue damage

Lab Evaluation of Metal Metabolism Disorders

Assessed via hematocrit, hemoglobin, RBC count/indices, total iron level, percent saturation, transferrin, ferritin, and total iron-binding capacity (TIBC)

Precautionary Measures in Trace Element Labs

Isolation of trace element labs with contamination controls (mats, non-shedding tiles, controlled airflow, disposable booties, particulate monitors)

Causes of Trace Element Deficiencies

Decreased intake (nutritional deficiency)
Inadequate supplementation (total parenteral nutrition)
Increased utilization (increased catabolism)
Interactions between trace elements (e.g., zinc interfering with copper absorption) or with other nutrients
Increased excretion
Disease states limiting intestinal absorption (malabsorption syndromes, intestinal resection)
Genetic diseases preventing element absorption (e.g., Menkes' syndrome, congenital atransferrinemia, acrodermatitis enteropathica, xanthine/sulfite oxidase deficiencies)

Lab Methodologies

Atomic Absorption Spectrometry (AAS):
- Most common for trace/toxic metal analysis
- Flame AAS for copper, iron, zinc (parts per million)
- GFAAS (graphite furnace AAS) for selenium, cadmium, lead (widely used in clinical samples)

Lab Methodologies (cont.)

Inductively Coupled Plasma Mass Spectrometry (ICP-MS): Highly sensitive and specific for multiple trace elements in a single run, ionizing argon to excite atoms
Atomic Emission Spectroscopy (AES):
- Uses flame or inductively coupled plasma sources
- Liquid sample converted to aerosol, excited atoms yield wavelengths measured by detectors (photomultipliers and array systems)

Elemental Speciation

Element toxicity depends on chemical form (e.g., arsenic—arsenobetine is non-toxic, methylated forms are intermediate, inorganic arsenic is toxic)
Hyphenated techniques (combining multiple analytical techniques to separate elemental forms)

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Description

Test your knowledge on Wilson's Disease, fluoride's role in dental health, and the importance of iodine for thyroid function. This quiz covers the mechanisms, effects of deficiencies, and the consequences of excessive intake for each topic. Perfect for students of medicine and health sciences!