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.
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.
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.
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.
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),
- lipiduria, and
Restless legs syndrome (RLS), also called Willis-Ekbom Disease, causes unpleasant or uncomfortable sensations in the legs and an irresistible urge to move them.