Features of the Thalassemias

The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains. Imbalances of globin chains cause hemolysis and impair erythropoiesis.

Continue reading

Clinical Features of Anaphylaxis

Anaphylaxis can present with a spectrum of signs and symptoms affecting multiple organ systems, including the skin, gastrointestinal tract, cardiovascular system, nervous system, and both the upper and lower respiratory tracts; hallmarks of anaphylaxis are the development of hypotension or the involvement of more than one organ system.

Continue reading

Criteria for the Reactive Airways Dysfunction Syndrome (RADS)

Irritant-induced occupational asthma is a term used to describe occupational asthma that occurs from exposure to agents considered to be airway irritants, in the absence of sensitization.

Continue reading

Features and Treatment of the Inherited Primary Hyperoxalurias

The autosomal recessive inherited primary hyperoxalurias types I, II and III are caused by defects in glyoxylate metabolism that lead to the endogenous overproduction of oxalate.

Continue reading

Clinical Features of Nephrotic and Nephritic Syndrome

Clinical Features of Nephrotic Syndrome

The nephrotic syndrome is a clinical complex characterized by:

  • proteinuria of >3.5 g per 1.73 m2 per 24 h (in practice, >3.0 to 3.5 g per 24 h),
  • hypoalbuminemia,
  • edema,
  • hyperlipidemia,
  • lipiduria, and
  • hypercoagulability.

Continue reading