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).
diagnostico
Traditional Diagnostic Criteria for Hereditary Hemochromatosis
Hereditary hemochromatosis has been traditionally defined as an inherited disorder characterized by inappropriately high absorption of dietary iron, which leads to abnormal accumulation of iron in parenchymal organs. In 1996, the HFE gene was isolated on chromosome 6. Since this finding hereditary hemochromatosis has been defined by some as the presence of a homozygous defect in the HFE gene with direct or indirect evidence of iron overload.
Criteria for the Diagnosis of Borderline Personality Disorder (BPD)
Borderline personality disorder is a chronic psychiatric disorder characterized by marked impulsivity, instability of mood and interpersonal relationships, and suicidal behaviour that can complicate medical care. Identifying this diagnosis is important for treatment planning.
Revised Diagnostic Criteria for Neuromyelitis Optica (NMO)
Neuromyelitis optica (NMO; Devic syndrome) is a clinically defined, severe CNS demyelinating syndrome characterized by optic neuritis (ON) and acute myelitis; the presence of CNS symptoms outside the optic nerves and spinal cord has until recently excluded the diagnosis.
Diagnostic Criteria for Reiter´s Syndrome or Reactive Arthritides (ReA)
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.
Key Diagnostic Criteria Distinguishing Manic Episode from Hypomanic Episode
Bipolar disorder, a medical illness with substantial morbidity and mortality, is characterized by episodic recurrent mania or hypomania and major depression. The hallmark of bipolar disorder is at least one episode of mania (bipolar I disorder) or hypomania (bipolar II disorder).
Diagnostic Criteria for Major Depression
In major depression, the person’s mood is described as depressed, sad, hopeless, discouraged, or “down in the dumps”.
Diagnosis of Goodpasture’s Syndrome
Goodpasture’s syndrome is a rare disorder characterized by pulmonary hemorrhage, glomerulonephritis, and antiglomerular basement membrane antibodies.
Diagnostic Criteria for Transverse Myelitis
The term “transverse myelitis” describes a heterogeneous group of inflammatory disorders that are characterized by acute or subacute motor, sensory, and autonomic (bladder, bowel, and sexual) spinal cord dysfunction. The clinical signs are caused by an interruption in ascending and descending neuroanatomical pathways in the transverse plane of the spinal cord, and a resulting sensory level is characteristic of the syndrome.
Diagnostic Criteria for Complex Regional Pain Syndrome (CRPS)
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.