Autor: |
Hassona, Yazan, Al Haddad, Ala'a, Atef, Ala'a |
Předmět: |
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Zdroj: |
Special Care in Dentistry; Nov2020, Vol. 40 Issue 6, p611-612, 2p |
Abstrakt: |
Oral findings in Crigler-Najjar syndrome type I Crigler-Najjar syndrome (CNS) is a rare autosomal recessive disorder of bilirubin metabolism first described in 1952.1 The syndrome is caused by mutation in uridine disphosphate-glucuronosyltransferase-1 ( I UGT1A1 i ) gene leading to inability to convert bilirubin from the conjugated to the unconjugated form, and subsequently hyperbilirubinemia.2 Depending on the level of enzyme malfunction, there are two types of CNS3: type I is more severe and characterized by near total loss of UGT1A1 activity, while type II (also known as Arias syndrome) is less severe and characterized by partial loss of enzyme activity.4 Symptoms of CNS usually become apparent shortly after birth and persist throughout life. GLO:100Y/01nov20:scd12518-fig-0001.jpg PHOTO (COLOR): 1 Oral findings in Crigler-Najjar syndrome include double lips, yellowish green discoloration of teeth, cobblestoning of buccal mucosa, redundant cheeks, and mucosal jaundice more pronounced in the floor of the mouth gl Recognition of oral findings in CNS can help to distinguish this syndrome form other related syndromes with similar clinical presentations such as Gilbert syndrome, Rotor syndrome, and Dubin-Johnson syndrome. [Extracted from the article] |
Databáze: |
Complementary Index |
Externí odkaz: |
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