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Classification and diagnosis of the underlying disease of hyperbilirubinemia are crucial for prescription of treatment. [6] Physical examination reviews clinical symptoms like degree of jaundice, vital signs and sensations of pain, further followed by urine tests, blood analysis and imaging.
Rotor syndrome (also known as Rotor type hyperbilirubinemia) [2] is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive [3] bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin.
When the total serum bilirubin increases over 95th percentile for age during the first week of life for high risk babies, it is known as hyperbilirubinemia of the newborn (neonatal jaundice) and requires light therapy to reduce the amount of bilirubin in the blood. Pathological jaundice in newborns should be suspected when the serum bilirubin ...
Hereditary hyperbilirubinemia refers to a group of conditions where levels of bilirubin, a byproduct of red blood cell metabolism, are elevated in the blood due to a genetic cause. [1] Various mutations of enzymes in the liver cells, which breakdown bilirubin, cause varying elevated levels of bilirubin in the blood. [ 2 ]
Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise usually asymptomatic. [7] [8] Severe cases are seen by yellowing of the skin tone and yellowing of the conjunctiva in the eye. [9] Gilbert syndrome has been reported to contribute to an accelerated onset of neonatal jaundice.
Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of nonhemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants.
ICD-10 coding number Diseases Database coding number Medical Subject Headings plasma cell leukemia: C90.1: D007952 Plasma cell leukemia (PCL), a lymphoproliferative disorder, [79] is a rare cancer involving a subtype of white blood cells called plasma cells. [80] Acute erythraemia and erythroleukaemia: Acute erythremic myelosis: Acute erythroid ...
[1] [10] Should any affected organs show chronic inflammatory infiltrate (lymphocytes), this would be an indication. Moreover, autoantibodies reacting to specific antigens is common, in the immune system of an affected individual. [4]