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Example: familial breast/colon cancer.
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1 Hyperplasia 2 Autosomal Recessive Disorders
3 Labs for G6PD Deficiency 4 Age dependent penetrance
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Terms in this set (186)
Hyperplasia ↑ number of cells due to increased mitotic division
(e.g., endometrial hyperplasia).
Hypertrophy ↑ cell size due to increased workload/hormonal
stimulation (e.g., cardiac hypertrophy).
Atrophy ↓ cell size/function due to disuse, aging, ischemia.
,Dysplasia Abnormal size/shape/organization; precancerous
(e.g., cervical dysplasia).
Metaplasia Reversible replacement of one cell type with another
(e.g., Barrett esophagus: squamous → columnar).
Calcium (Ca²⁺) Hyper Causes: hyperparathyroidism, malignancy. Symptoms:
bone pain, kidney stones, constipation, confusion,
weakness, lethargy, arrhythmias (short QT).
Calcium (Ca²⁺) Hypo Causes: ↓ PTH, hypoparathyroidism, vit D deficiency,
renal failure, pancreatitis. Symptoms: Neuromuscular
excitability: tetany, tingling, numbness.
Sodium (Na⁺) Hyper Causes: Water loss (dehydration, diabetes insipidus),
hyperaldosteronism, excess Na⁺ intake. Symptoms:
"FRIED" → Fever/flushed, Restless, Increased fluid
retention/BP, Edema, Decreased urine output/dry
mouth.
Sodium (Na⁺) Hypo Causes: Excess water (dilutional), SIADH, diuretics,
CHF, GI loss. Symptoms: Confusion, headache,
nausea, seizures, cerebral edema, coma, muscle
cramps, weakness.
Potassium (K⁺) Hyper Causes: renal failure, acidosis, K⁺-sparing diuretics,
tissue breakdown (burns, trauma). Symptoms: muscle
weakness, paralysis, cardiac arrhythmias (peaked T
waves, widened QRS).
Potassium (K⁺) Hypo Causes: GI losses (vomiting, diarrhea), diuretics,
insulin excess, alkalosis. Symptoms: muscle weakness,
cramps, arrhythmias (flattened T waves, U waves),
Ileus, constipation.
Autosomal Dominant Disorders One mutated allele = disease. No carriers. Example:
Huntington's, Marfan, Achondroplasia.
, Autosomal Recessive Disorders Two mutated alleles required. Carriers unaffected.
Example: CF, sickle cell.
Age dependent penetrance Example: familial breast/colon cancer.
Inheritance in Dominant Disorders Only one copy of the altered gene is required for
manifestation.
Inheritance in Recessive Disorders Both copies of the gene (one from each parent) must
be altered.
Probability of Child Having Recessive 25% chance of child having it.
Disorder
Consanguinity Sometimes present in recessive disorders.
Clinical Significance of Dysplasia Considered precancerous (may progress to
malignancy if not corrected).
Mechanism of Hyperplasia Increased cell division in response to hormones,
growth factors, or stress.
Mechanism of Hypertrophy Increased workload or stimulation (mechanical or
hormonal).
Mechanism of Atrophy Reduced workload, loss of innervation, decreased
blood supply, aging, malnutrition.
Mechanism of Dysplasia Chronic irritation or inflammation → abnormal but
still reversible if stimulus removed.
Mechanism of Metaplasia Reprogramming of stem cells under chronic irritation.
X-linked Disorders Disorders caused by mutations on the X
chromosome, with males typically more severely
affected.