UDP- UGT1A1. ALT 132 U/ l γ-gtp 145 U/ l ALP 635 U/ l LAP 85 IU/ l

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Emilio Cabrera Rodríguez
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1 pp doi: /jjsps.52.5_ ,2 1 1,2 6 3 HS UDP- UGT1A1HS UGT1A1 I hereditary spherocytosis: HS 1) HS II 6 3 HS cm 23 kg 1 T-bil 32.2 mg/dl D-bil 13.7 mg/dl ID-bil 18.5 mg/dlast 133 U/ l ALT 132 U/ l γ-gtp 145 U/ l ALP 635 U/ l LAP 85 IU/ l LDH 340 U/ l Hb 10.5 g/dl 1 WBC 5,300 /μl AST 133 U/ l T-bil 32.2 mg/dl RBC /μl ALT 132 U/ l D-bil 13.7 mg/dl Hb 10.5 g/dl γ-gtp 145 U/ l ID-bil 18.5 mg/dl Ht 29.8 ALP 635 U/ l APTT 37.4 sec Plt /μl LAP 85 IU/ l PT 75 Ret /μl LDH 340 U/ l PTINR 1.21 INR

2 APTT 37.4 sec PT 75 PTINR 1.21 INR MRCP 2 ENBD ENBD 8 ENBD EST CT TAE 10.2 cm 3.4 cm 15.6 mm 2 MRCP mm

3 ENBDEST TAE APTT 75.4 sec PT 15 PTINR INR PIVKA- II 2 μg/ml K /μl DIC K 2 45 AST 202 U/ l ALT 143 U/ l ST UDP- UGT1A1 2) UGT1A mg/dl 1.8 mg/dl HS UGT1A1 III HS 1) HS 10

4 ) Crigler-Najjar I Crigler-Najjar II Gilbert UGT1A1 4 3 UGT1A1 3) Crigler-Najjar I II 1, Gilbert Crigler-Najjar I Crigler-Najjar II Gilbert UGT1A1 Crigler-Najjar II Gilbert 3) HS HS 3 4)-6) HS ) mg/dl 4) HS 5 7) HS 11 HS 5 8) mg/dl HS 4 UGT1A1 UGT1A1 2) UDP UGT1A1 UDP-

5 HS mg/dl 4) UGT1A1 T-bil 42 D-bil HS T-bil 9 D-bil 1.2 UGT1A1 5) UGT1A1 T-bil 6.7 ID-bil 14 HS 16 ID-bil T-bil UGT1A1 T-bil 6.1 D-bil 0.2 6) 3 11 UGT1A1 T-bil HS 10 D-bil T-bil 1 3 UGT1A1 3 6 HS T-bil HS 6 T-bil 4.0 D-bil 0.1 T-bil 2.1 D-bil 0.1 D-bil 13.7 UGT1A1 T-bil 1.9 D-bil 0.1 HS UGT1A1 UDP- K K K II VII IX X PT APTT K PIVKA-II K UGT1A1 Crigler-Najjar II Gilbert UGT1A1 HS 9) UGT1A1 SN-38 SN-38 UDP- UGT UGT1A1 SN-38 10) UGT1A1 HS HS UGT1A1 HS UGT1A1

6 : , : , Maruo Y, Nakahara S, Yanagi T, et al: Genotype of UGT1A1 and phenotype correlation between Crigler- Najjar syndrome type II and Gilbert syndrome. J Gastroenterol Hepatol, 31: , Lee JH, Moon KR: Coexistence of Gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice. Pediatr Gastroenterol Hepatol Nutr, 17: , Iijima S, Ohzeki T, Maruo Y: Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase dificiency highly suggestive of Crigler-Najjar syndrome type II. Yonsei Med J, 52: , Sugita K, Maruo Y, Kurosawa H, et al: Severe hyperbilirubineia in a 10-year-old girl with a combined disorder of hereditary spherocytosis and Gilbert syndrome. Pediatr Int, 49: , del Giudice EM, Perrotta S, Nobili B, et al: Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood, 94: , Tamary H, Aviner S, Freud E, et al: High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis. J Pediatr Hematol Oncol, 25: , : , UGT1A1 Biotherapy 24: 13-19, Severe Hyperbilirubinemia in a 6-year-old Girl With a Combined Disorder of Hereditary Spherocytosis and Constitutional Jaundice Chieko Hisamatsu 1,2, Eiji Nishijima 1, and Kosaku Maeda 1,2 1 Divion of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine 2 Department of Pediatric Surgery, Kobe Children s Hospital Constitutional jaundice (CJ) is characterized by mild and chronic unconjugated hyperbilirubinemia with intermittent jaundice in the absence of liver and hemolytic disease. We encountered a case of severe hyperbilirubinemia and prolonged jaundice after the release of common bile duct (CBD) obstruction, splenectomy, and cholecystectomy in a child with a combination of hereditary spherocytosis (HS) and CJ. Case: At 3 years of age, a girl was diagnosed as having HS. She had abdominal pain periodically, and biliary sludge was Key words: hereditary spherocytosis, constitutional jaundice, prolonged jaundice, UGT1A1 Correspondence to: Chieko Hisamatsu, Department of Pediatric Surgery, Kobe Children s Hospital, Minatojima-minamimachi, Chuo-ku, Kobe, JAPAN detected by ultrasound. At 6 years of age, she developed severe jaundice and frequently had stomachaches. The imaging showed splenomegaly and CBD obstruction by biliary sludge. The CBD obstruction was released by endoscopic nasobiliary drainage, but her jaundice continued. Then, laparoscopic splenectomy and cholecystectomy were performed. Postoperatively, intraperitoneal bleeding occurred and required laparotomy for hemostasis. Prior to reoperation, severe coagulopathy was found. Later, her jaundice gradually improved, but still remained. On further examination, mutations of UGT1A1 were found. We diagnosed that her prolonged jaundice was due to CJ. When a patient with HS develops biliary sludge, gallstones, or prolonged jaundice in childhood, there is a possibility that it develops in combination with CJ.

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