Transient familial neonatal hyperbilirubinemia
Name: |
Transient familial neonatal hyperbilirubinemia
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Description: |
A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.
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ORPHAcode: |
2312
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Synonyms: |
Lucey-Driscoll syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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