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Less common disorders:W

2025-04-08 生物化学 加入收藏
DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMSWegener's granulomatosisC
DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMS
Wegener's granulomatosis

  • 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

  • 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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