Gilbert syndrome is a genetic condition and this autosomal recessive condition is characterized by intermittent jaundice in the absence of hemolysis or liver disease.
The hyperbilirubinemia is mild. By definition, bilirubin levels in Gilbert syndrome are lower than 6 mg/dL, though most patients exhibit levels lower than 3 mg/dL. Gilbert syndrome is the result of a genetic mutation in the promoter region of a gene for the enzyme UGT1A (bilirubin–uridine diphosphate glucuronyl transferase). Continue reading →
The tumor lysis syndrome is the most common disease-related emergency encountered by physicians caring for children or adults with hematologic cancers. This syndrome occurs when tumor cells release their contents into the bloodstream, either spontaneously or in response to therapy, leading to the characteristic findings of hyperuricemia, hyperkalemia, hyperphosphatemia, and hypocalcemia. These electrolyte and metabolic disturbances can progress to clinical toxic effects, including renal insufficiency, cardiac arrhythmias, seizures, and death due to multiorgan failure. Continue reading →
Reactive arthritis (ReA) is an inflammatory arthritis that arises after certain types of gastrointestinal or genitourinary infections. It belongs to the group of arthritidies known as the spondyloarthropathies (SpAs). The classic syndrome is a triad of symptoms, including the urethra, conjunctiva, and synovium; however, the majority of patients do not present with this classic triad. In general, there are two forms of ReA, postvenereal (Chlamydia trachomatis [Ct]) and postdysentery (Salmonella, Shigella, Campylobacter, and Yersinia), but several other bacteria have been implicated as potential causes.
Complex regional pain syndrome (CRPS) has been known by many names, but most commonly as reflex sympathetic dystrophy and causalgia (as attributed to Evans and Mitchell, respectively). In the past, it was diagnosed using a variety of nonstandardized and idiosyncratic diagnostic systems. The name was ultimately changed to complex regional pain syndrome (CRPS) at a consensus workshop in Orlando, Florida, in 1994, with the new name and diagnostic criteria codified by the International Association for the Study of Pain (IASP) task force on taxonomy. Continue reading →
1996 Case Definition
Clinical description Hemolytic uremic syndrome (HUS) is characterized by the acute onset of microangiopathic hemolytic anemia, renal injury, and a low platelet count. Thrombotic thrombocytopenic purpura (TTP) also is characterized by these features but can include central nervous system (CNS) involvement and fever and may have a more gradual onset. Most cases of HUS (but few cases of TTP) occur after an acute gastrointestinal illness (usually diarrheal).
Bartter’s syndrome is a rare disease that most often presents in the neonatal period or early childhood with polyuria, polydipsia, salt craving, and growth retardation. Blood pressure is normal or low. Metabolic abnormalities include hypokalemia, hypochloremic metabolic alkalosis, decreased urinary concentrating and diluting ability, hypercalciuria with nephrocalcinosis, mild hypomagnesemia, and increased urinary prostaglandin excretion.
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by dysregulation of the immune system due to an inability to regulate lymphocyte homeostasis through the process of lymphocyte apoptosis (a form of programmed cell death). The consequences of this include lymphoproliferative disease, manifested by lymphadenopathy, hepatomegaly, splenomegaly, and an increased risk of lymphoma, as well as autoimmune disease, typically involving blood cells.