Journal of pediatric hematology/oncology · 2009
Hereditary spherocytosis in 3 children coexisting with UDP-glucuronyl transferase 1A1 deficiency.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Shiota Mitsutaka, Asada Junko, Nishida Hitoshi, Kumakura Akira, Yoshioka Takakazu, Hata Atsuko, Watanabe Ken, Maruo Yoshihiro, Kato Junko, Ideguchi Hiroshi, Nakanishi Hidekazu, Sugihara Takashi, Hata Daisuke
Аннотация
Simultaneous presence of hemolytic anemia and bilirubin UDP-glucuronosyltransferase deficiency is a possible cause of misdiagnosis. Seven-year-old and 17-year-old brothers and a 15-year-old sister consecutively suffered from aplastic crises. Although few spherocytes were present, the siblings and their mother had diagnoses of hereditary spherocytosis with flow cytometric analysis of eosin-5'-maleimide-labeled red blood cells in addition to osmotic fragility test. However, inappropriately high values of bilirubin compared with mild hemolysis persisted. Further analysis of UDP-glucuronyltransferase 1A1 revealed all 3 siblings were heterozygous for A(TA)7TAA-P229Q. We report here the importance of careful evaluation of mild hereditary spherocytosis masking UDP-glucuronyltransferase 1A1 deficiency.