| DISEASE AND CAUSES |
PATHOPHYSIOLOGY |
SIGNS AND SYMPTOMS |
| Wegener's granulomatosis |
|
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- Cause unknown; resembles infectious process but no causative agent found
- Histologic changes suggest hypersensitivity as basis of disorder
|
Localized granulomatous inflammation of upper or lower respiratory tract mucosa may progress to generalized necrotizing granulomatous vasculitis and glomerulonephritis. |
- Fever, malaise, anorexia, and weight loss
- Upper respiratory tract complaints including nosebleeds, sinusitis, nasal ulcerations, cough, hemoptysis, and pleuritis
- Necrotizing granulomatous skin lesions
- Pulmonary infiltrates with cavitation
- Glomerulonephritis with hypertension and uremia
|
| Wilson's disease |
|
|
- Inherited copper toxicosis
|
Defective mobilization of copper from hepatocellular lysosomes for excretion via the bile allows excessive copper retention in the liver, brain, kidneys, and corneas, leading to tissue necrosis and subsequent hepatic and neurologic disorders. |
Kayser-Fleischer ring:
- Rusty brown ring of pigment at periphery of corneas
- Signs of hepatitis leading to cirrhosis
- Tremors, unsteady gait, muscular rigidity, inappropriate behavior, and psychosis
- Hematuria, proteinuria, and uricosuria
|
| Wiskott-Aldrich syndrome |
|
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- X-linked recessive immunodeficiency disorder
- Defective B-cell and T-cell functions
|
Deficiency in both B-cell and T-cell function allows for susceptibility to infection. Metabolic defect in platelet synthesis causes production of small, short-lived platelets resulting in thrombocytopenia. |
In newborn:
- Hemorrhagic symptoms such as bloody stools, bleeding from circumcision site, petechiae, and purpura
In older children:
- Recurrent systemic infections and eczema
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