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Depending on the type of hereditary hyperbilirubinemia, symptoms can be worsened when an additional cause of increased red blood cell turnover occurs, as these patients have a decreased ability to process bilirubin. Elevated levels of unconjugated bilirubin is neurotoxic and can cause damage to the brain, called bilirubin encephalopathy which ...
Neonatal cholestasis refers to elevated levels of conjugated bilirubin identified in newborn infants within the first few months of life. [1] Conjugated hyperbilirubinemia is clinically defined as >20% of total serum bilirubin or conjugated bilirubin concentration greater than 1.0 mg/dL regardless of total serum bilirubin concentration. [2]
Neonatal jaundice is a yellowish discoloration of the white part of the eyes and skin in a newborn baby due to high bilirubin levels. [1] Other symptoms may include excess sleepiness or poor feeding. [1] Complications may include seizures, cerebral palsy, or kernicterus. [1] In most of cases there is no specific underlying physiologic disorder. [2]
Cholestasis can be excluded by normal levels of bile acids in plasma, the absence of lactate dehydrogenase, low levels of conjugated bilirubin, and ultrasound scan of the bile ducts. [citation needed] Vitamin B12 deficiency - elevated bilirubin levels (and MCV counts above 90–92) can be associated with a vitamin B12 deficiency. [citation needed]
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]
As unconjugated bilirubin has a high affinity to albumin, at high level it is not efficiently cleared through glomerular filtration and it binds to the elastic tissue of the skin and sclera, where high albumin content can be found. [25] This explains the yellow discolouration observed in these tissues in hemolytic jaundice.
Early symptoms include anemia, jaundice, splenomegaly, and fatigue. [2] Acute cases can threaten to cause hypoxia secondary to anemia and acute kernicterus through high blood levels of bilirubin, particularly in newborns. Most cases can be detected soon after birth. Testing for HS is available for the children of affected adults.
Conditions that may cause similar symptoms in the newborn period include: acquired hemolytic anemia, congenital toxoplasma, congenital syphilis infection, congenital obstruction of the bile duct, and cytomegalovirus (CMV) infection. [citation needed] High at birth or rapidly rising bilirubin [6] Prolonged hyperbilirubinemia [6]