Thrombocytopenia
BACKGROUND Print Section Listen Thrombocytopenia, usually defined as an absolute platelet count less than 150,000/mm3, is a common cause of bleeding in pediatric patients. A low platelet count can be…
Epidermolysis Bullosa
BACKGROUND Print Section Listen Epidermolysis bullosa (EB) refers to a family of rare genodermatoses characterized by an inherited tendency toward recurrent cutaneous and mucosal blistering at sites of mechanical trauma….
Management of Sickle Cell Disease
BACKGROUND Print Section Listen Sickle cell disease (SCD) is an inherited hemolytic anemia that affects approximately 100,000 persons in the United States, mostly in the African-American population. It is responsible…
Inflammatory Bowel Disease
BACKGROUND Print Section Listen Crohn’s disease (CD) and ulcerative colitis (UC), collectively known as inflammatory bowel disease (IBD), are idiopathic, lifelong, destructive chronic inflammatory conditions of the gastrointestinal tract which…
Hypoglycemia
BACKGROUND Print Section Listen Hypoglycemia is the most common biochemical emergency in pediatric patients. Therefore, the ability to efficiently evaluate and treat of this condition is essential for the general…
Hyperammonemia
BACKGROUND Print Section Listen PATHOPHYSIOLOGY Ammonia, the nitrogen-containing waste product of protein metabolism, is extremely toxic at high concentrations. Under normal circumstances, blood ammonia is cleared rapidly by the urea…
Genetic Syndromes Caused by Chromosomal Abnormalities
BACKGROUND Print Section Listen Understanding the influence of genetics on health and disease has been a major goal in scientific research over the last century. A landmark of this initiative…
Malnutrition
BACKGROUND Print Section Listen Malnutrition refers to disorder of nutritional status from either a deficiency or excess (i.e. imbalance) of energy, protein, and/or other nutrients that lead to adverse effects…
Metabolic Acidosis
BACKGROUND Print Section Listen Metabolic acidemia is a common laboratory finding, and most cases are caused by conditions such as hypovolemia, systemic infection, and acute diarrhea. The challenge for the…
Biliary Disease
BACKGROUND Print Section Listen The biliary tree includes the ducts that drain bile from the liver and coalesce into the right and left hepatic ducts, the cystic duct and gallbladder,…
