Lee, Hwa Pyung
(Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
,
Kang, Ben
(Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
,
Choi, So Yoon
(Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
,
Lee, Sanghoon
(Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine)
,
Lee, Suk-Koo
(Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine)
,
Choe, Yon Ho
(Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Purpose: Infants with Alagille syndrome (AGS) are occasionally misdiagnosed as biliary atresia and subsequently undergo Kasai operation. The purpose of this study was to investigate the outcome of patients with AGS who had previously received Kasai operation during infancy. Methods: This retrospecti...
Purpose: Infants with Alagille syndrome (AGS) are occasionally misdiagnosed as biliary atresia and subsequently undergo Kasai operation. The purpose of this study was to investigate the outcome of patients with AGS who had previously received Kasai operation during infancy. Methods: This retrospective study was conducted at the Department of Pediatrics, Samsung Medical Center. We compared the prognosis and mortality between those who had undergone Kasai operation during infancy (Kasai group) and those who had not (non-Kasai group). Results: Among the 15 children with AGS, five had received Kasai operation, while 10 had not. All subjects in the Kasai group revealed neonatal cholestasis, while 70% of the non-Kasai group showed neonatal cholestasis. Liver transplantation was performed in 100% (5/5) among the Kasai group, and 20.0% (2/10) among the non-Kasai group (p=0.007). Mortality was observed in 60.0% (3/5) among the Kasai group, and 10.0% (1/10) among the non-Kasai group (p=0.077). Conclusion: Although overall mortality rate did not significantly differ between the two groups, the proportion of patients receiving liver transplantation was significantly higher in the non-Kasai group. The relatively worse outcome in AGS patients who had received Kasai operation may be due to the unfavorable influences of Kasai operation on the clinical course of AGS, or maybe due to neonatal cholestasis, irrespective of the Kasai operation.
Purpose: Infants with Alagille syndrome (AGS) are occasionally misdiagnosed as biliary atresia and subsequently undergo Kasai operation. The purpose of this study was to investigate the outcome of patients with AGS who had previously received Kasai operation during infancy. Methods: This retrospective study was conducted at the Department of Pediatrics, Samsung Medical Center. We compared the prognosis and mortality between those who had undergone Kasai operation during infancy (Kasai group) and those who had not (non-Kasai group). Results: Among the 15 children with AGS, five had received Kasai operation, while 10 had not. All subjects in the Kasai group revealed neonatal cholestasis, while 70% of the non-Kasai group showed neonatal cholestasis. Liver transplantation was performed in 100% (5/5) among the Kasai group, and 20.0% (2/10) among the non-Kasai group (p=0.007). Mortality was observed in 60.0% (3/5) among the Kasai group, and 10.0% (1/10) among the non-Kasai group (p=0.077). Conclusion: Although overall mortality rate did not significantly differ between the two groups, the proportion of patients receiving liver transplantation was significantly higher in the non-Kasai group. The relatively worse outcome in AGS patients who had received Kasai operation may be due to the unfavorable influences of Kasai operation on the clinical course of AGS, or maybe due to neonatal cholestasis, irrespective of the Kasai operation.
* AI 자동 식별 결과로 적합하지 않은 문장이 있을 수 있으니, 이용에 유의하시기 바랍니다.
문제 정의
The aim of this study was to evaluate the clinical features and outcomes of patients with AGS who had previously received Kasai operation during infancy by comparison with those who had not.
제안 방법
The diagnosis of AGS required at least three of the five major clinical features; chronic cholestasis, congenital heart disease, “butterfly-like” vertebrae, posterior embryotoxon, and peculiar faces, or JAG1 gene mutation.
대상 데이터
Fifteen patients were diagnosed with AGS (Table 1). Kasai operation had been conducted in five patients (33.
데이터처리
Comparison between the two groups was conducted by the Fisher’s exact test using the IBM SPSS Statistics ver. 22.0 for Windows (IBM Co., Armonk, NY, USA).
이론/모형
Alagille syndrome (AGS) is a complex autosomal dominant disorder due to defects in the Notch signaling pathway, and is characterized by paucity of the intrahepatic bile ducts, cholestasis, congenital heart defects, dysmorphic facies, and skeletal and eye anomalies [1]. The clinical diagnosis of AGS has been based on the classic criteria established by Alagille et al. [2], which requires a minimum of 3 out of 5 major clinical features; chronic cholestasis due to bile duct paucity, congenital heart disease (most commonly peripheral pulmonary artery stenosis), vertebral anomalies (butterfly vertebrae), ocular anomalies (posterior embryotoxon), and the abnormal facies (recognizable dysmorphic features).
성능/효과
In summary, our study shows the future outcomes of AGS patients who had received Kasai operation during infancy. The results of our study highlight the importance of differentiating AGS from other causes of neonatal cholestasis, especially biliary atresia, as inappropriate surgical intervention may worsen the outcome. Thorough medical investigation with particular consideration of AGS is essential for the pediatrician to identify subclinical features in patients with conjugated hyperbilirubinemia in the early infantile period.
참고문헌 (13)
1 Vajro P Ferrante L Paolella G Alagille syndrome: an overview Clin Res Hepatol Gastroenterol 2012 36 275 277 22521120
2 Alagille D Estrada A Hadchouel M Gautier M Odièvre M Dommergues JP Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases J Pediatr 1987 110 195 200 3806290
5 Deprettere A Portmann B Mowat AP Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood J Pediatr Gastroenterol Nutr 1987 6 865 871 3681572
6 Hoffenberg EJ Narkewicz MR Sondheimer JM Smith DJ Silverman A Sokol RJ Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy J Pediatr 1995 127 220 224 7636645
7 Emerick KM Rand EB Goldmuntz E Krantz ID Spinner NB Piccoli DA Features of Alagille syndrome in 92 patients: frequency and relation to prognosis Hepatology 1999 29 822 829 10051485
8 Quiros-Tejeira RE Ament ME Heyman MB Martin MG Rosenthal P Hall TR Variable morbidity in alagille syndrome: a review of 43 cases J Pediatr Gastroenterol Nutr 1999 29 431 437 10512403
9 Subramaniam P Knisely A Portmann B Qureshi SA Aclimandos WA Karani JB Diagnosis of Alagille syndrome-25 years of experience at King's College Hospital J Pediatr Gastroenterol Nutr 2011 52 84 89 21119543
10 Ahn KJ Bae EJ Yoon JK Kim GB Kwon BS Moon JS Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center Korean J Pediatr 2014 [Epub ahead of print]
11 Ganschow R Grabhorn E Helmke K Rogiers X Burdelski M Liver transplantation in children with Alagille syndrome Transplant Proc 2001 33 3608 3609 11750533
12 Kasahara M Kiuchi T Inomata Y Uryuhara K Sakamoto S Ito T Living-related liver transplantation for Alagille syndrome Transplantation 2003 75 2147 2150 12829928
13 Lykavieris P Hadchouel M Chardot C Bernard O Outcome of liver disease in children with Alagille syndrome: a study of 163 patients Gut 2001 49 431 435 11511567
AI-Helper
※ AI-Helper는 부적절한 답변을 할 수 있습니다.