Familial Occurrence of Congenital Bile Duct Dilatation By Makoto
Iwafuchi,
Yoshihiro Ohsawa,
Shinichi Naito,
Masafumi
Naito, Yuhkichi Maruta,
and Hideki Saito
Miiga ta, Japan 0 The occurrence of congenital bile duct dilatation (CBD) in both a mother and her daughter was recently experienced at Niigata University Hospital and Niigata Shimin Hospital. Bile duct dilatation with anomalous pancreaticobiliary ductal junction (AP-BDJ) was disclosed in both. Intrahepatic bile duct dilatation wes only in the mother. Removal of dilated bile duct, cholecystectomy, and hepatioojejunostomy were performed in both. Fourteen cases of CBD from seven families were collected from literature and discussed. @ 1990 by W.B. Saunders Company. INDEX WORDS: Congenital bile duct dilatation; pancreaticobiliary ductal junction.
anomalous
W
E REPORT THE familial occurrence of congenital bile duct dilatation (CBD) in both a mother and her daughter, and discuss the possibility of inheritance. CASE
REPORTS
Case 1 T.S., a 25-year-old woman, 9 months pregnant, was admitted to the Niigata Shimin Hospital, complaining of abdominal pain and a low-grade fever on April 2, 1979. Cystic dilatation of the bile duct with acute pancreatitis was diagnosed by using computed tomography and 99mTc-EHIDA. Examination of her blood showed a red blood cell count of 373 x 104/mm3, white blood cell count of 16,70O/mm’, and hemoglobin of 9.7 g/dL. Liver function tests showed serum total bilirubin of 0.3 mg/dL, glutamate oxaloacetate transaminase (GOT) of 28 units/ dL, glutamate pyruvate transaminase (GPT) of 18 units/dL, lactate dehydrogenase (LDH) of 537 units/dL, and alkaline phosphatase of 13.7 units/dL (Kind-King method). The level of serum amylase was 6,150 units/dL, and urine amylase was 324 units/dL. She underwent a tube cholecystostomy 2 days later. The level of amylase in the bile taken from the gallbladder was 112,500 units/ dL. She delivered a boy at 40 weeks’ gestation, on May 24, 1979. An anomalous pancreaticobiliary ductal junction (AP-BDJ) was disclosed by postoperative endoscopic retrograde cholangiopancreatography (ERCP). She underwent a cholecystectomy, removal of the dilated bile duct, and hepaticojejunoduodenostomy (jejunal interposition) on June 15. Operative cholangiography showed a dilatation of the intrahepatic bile duct. No histologic malignancy was found in the removed bile duct. The postoperative course was uneventful, and she was discharged 3 weeks after the last operation.
Fig 1.
ERCP shows a fusiform-shaped dilatation of the bile
duct with AP-BDJ.
A fusiform-shaped dilatation of the bile duct and an AP-BDJ were discovered by using ERCP (Fig 1). She underwent a cholecystectomy, removal of the dilated bile duct, and hepaticojejunostomy in a Roux-en-Y fashion on February 6. The level of amylase in the bile taken from the gallbladder was 1400 x lo4 units/dL. The removed bile duct was histologically not malignant. The postoperative course was uneventful and she was discharged 15 days after the operation. REVIEW
OF THE LITERATURE
Fourteen cases, or seven pairs, of familial occurrence of CBD, including our cases, were collected in the literature (Table 1). All were found only in the
Case 2 C.S. (the third child of case I), a 31-month-old girl was admitted to the Niigata University Hospital with complaints of abdominal pain and a low-grade fever on January 281987. Examination of her blood showed an red blood cell count of 485 x lO’/mm’, white blood cell count of 10,WO/mm3, and hemoglobin of 11.9 g/dL. The liver function tests showed serum total bilirubin of 0.2 mg/dL, GOT of 35 units/dL, GPT of 16 units/dL, LDH of 678 units/dL, and alkaline phosphatase of 416 units/dL (AACC reference method for the measurement of alkaline phosphatase).
Journal
of Pediatric
Surgery,
Vol 25, No 3 (March), 1990: pp 353-355
From the Department of Pediatric Surgery, Niigata University Hospital, and the Department of Surgery, Niigata Shimin Hospital, Niigata, Japan. Address reprint requests to Makoto Iwafichi, MD. Department of Pediatric Surgery, Niigata University Hospital. I-Asahimachi. Niigata. 951 Japan. 8 1990 by W.B. Saunders Company. 0022-3468/90/2503-0022$03,00/0 353
354
IWAFUCHI ET AL
Table 1. Familial Occurrence
studv Chiba et al’
Case NO.
Aae/SeX
CBD
of Congenital
AP-BDJ
Bile Duct Dilation Value of Bile Amvlase
FamilyTree
Combination
1
4ylOmolF
+
High
Sister
2
3y9mo/F
+
High
Sister 6
Hiraki et al2
3
32v/M
+
Father 33
lwama et al3
Akiyama et al4
Date et al’
lwafuchi et al
4
2v/F
+
Daughter
5
48y/F*
+
Mother
6
1 WF
+
Daughter
7
45ylF
-
+
Mother
6
17Y/M
+
+
son
9
34vlF
+
-
Mother
10
3mo/F
+
2
23
1
x
b
Daughter 7
11
7Y/M
+
12
1Ov/F
+
High
13
25~1~
+
High
+
High
I 14
2y7mo/F
Daughter 70
I
0
1 62
4 NOTE. 0, affected female; 0. healthy female:
n, affected
male: 0, healthy male: number indicates the age of the patient.
*Cancer of bile duct.
Japanese literature. The combinations were as follows: two sisters, one pair’; a father and a daughter, one pair2; a mother and a son, one pair3; a mother and a daughter, three pairs3*4; a brother and a sister, one pair.’ All had CBD except one, in whom ERCP showed only the existence of AP-BDJ. The sex ratio of these familial cases was 1 male to 3.7 females, not different from the ratio of 1 to 2.6 that was previously reported by Komi et al.6 AP-BDJ was recognized in 10 cases. Cases 5 and 9 have not yet undergone ERCP, and only case 10 has no AP-BDJ. Evidence of AP-BDJ was not confirmed in case 12, in which the value of bile amylase was high.’ The value of bile amylase measured at operation was high in five cases. In the remaining cases the level of bile amylase was not described. Cancer of the bile duct was histologically diagnosed
in two patients who had undergone operations, at age of 34 and 48, respectively. DISCUSSION
In the literature, seven pairs of familial occurrence of CBD, including our own cases, were found, which suggests the possibility of hereditary CBD. A close relationship between CBD and AP-BDJ has been reported and generally confirmed to date.’ But, it is true that there are a few cases of CBD not accompanied by AP-BDJ, and that the presence of AP-BDJ does not necessarily cause a formation of CBD. The fact that of the 12 patients listed in Table 1 undergoing examination for AP-BDJ, 10 are associated with AP-BDJ, seems to suggest that there is a close relationship between CBD and AP-BDJ. According to these findings, if CBD is an inherited condition, AP-BDJ might be an inherited condition as well.
FAMILIAL
355
OCCURRENCE OF BILE DUCT DILATATION
As to the inheritance pattern of CBD, Iwama et al’ suggested two possibilities (1) X-linked dominant trait, and (2) autosomal trait being prevalent in females. However, it is difficult to discuss the hereditary pattern of CBD in detail because there are only insufficient and incomplete data available from the literature. In order
to discuss the possibility of hereditary condition of CBD, it would be necessary to accumulate more cases with confirmation of the relationship between CBD and AP-BDJ. Therefore, it is recommended that an Echogram and ERCP examination be performed on all the family members of patients who have CBD.
REFERENCES 1. Chiba T, Ohashi E, Uchida T, et al: Congenital bile duct
dilatation in siblings. Z Kinderchir 32:188-190, 1981 2. Hiraki M, Yano H, Tomita T, et al: Congenital biliary ductal dilatation which occurred in a father and his daughter. J Jpn Sot Pediatr Surg 18:413, 1982 (in Japanese) 3. Iwama T, Iwata S, Murakami S, et al: Congenital bile duct dilatation-Possibly a hereditary condition. Jpn J Surg 15:501-505, 1985 4. Akiyama T, Nagakawa T, Maeda M, et al: Congenital biliary
dilatation occurring in a mother and her daughter. The Biliary Tract and Pancreas 7:905-910, 1986 (in Japanese) 5. Date M, Sugimoto S, Kawasaki S, et al: Familial congenital cystic dilatation of common bile duct. Jpn J Gastroenterol Surg 20:2631-2634, 1987 (in Japanese) 6. Komi N, Kuramoto M, Udaka H, et al: Congenital biliary dilatation in Japan. Tokushima J Exp Med 28:91-95, 1981 7. Juda Z, Babbitt DP, Starshak RJ, et al: Anatomic observations and etiologic and surgical consideration in choledochal cyst. J Pediatr Surg 14:315-320, 1979
Iwafuchi,
Yoshihiro Ohsawa,
Shinichi Naito,
Masafumi
Naito, Yuhkichi Maruta,
and Hideki Saito
Miiga ta, Japan 0 The occurrence of congenital bile duct dilatation (CBD) in both a mother and her daughter was recently experienced at Niigata University Hospital and Niigata Shimin Hospital. Bile duct dilatation with anomalous pancreaticobiliary ductal junction (AP-BDJ) was disclosed in both. Intrahepatic bile duct dilatation wes only in the mother. Removal of dilated bile duct, cholecystectomy, and hepatioojejunostomy were performed in both. Fourteen cases of CBD from seven families were collected from literature and discussed. @ 1990 by W.B. Saunders Company. INDEX WORDS: Congenital bile duct dilatation; pancreaticobiliary ductal junction.
anomalous
W
E REPORT THE familial occurrence of congenital bile duct dilatation (CBD) in both a mother and her daughter, and discuss the possibility of inheritance. CASE
REPORTS
Case 1 T.S., a 25-year-old woman, 9 months pregnant, was admitted to the Niigata Shimin Hospital, complaining of abdominal pain and a low-grade fever on April 2, 1979. Cystic dilatation of the bile duct with acute pancreatitis was diagnosed by using computed tomography and 99mTc-EHIDA. Examination of her blood showed a red blood cell count of 373 x 104/mm3, white blood cell count of 16,70O/mm’, and hemoglobin of 9.7 g/dL. Liver function tests showed serum total bilirubin of 0.3 mg/dL, glutamate oxaloacetate transaminase (GOT) of 28 units/ dL, glutamate pyruvate transaminase (GPT) of 18 units/dL, lactate dehydrogenase (LDH) of 537 units/dL, and alkaline phosphatase of 13.7 units/dL (Kind-King method). The level of serum amylase was 6,150 units/dL, and urine amylase was 324 units/dL. She underwent a tube cholecystostomy 2 days later. The level of amylase in the bile taken from the gallbladder was 112,500 units/ dL. She delivered a boy at 40 weeks’ gestation, on May 24, 1979. An anomalous pancreaticobiliary ductal junction (AP-BDJ) was disclosed by postoperative endoscopic retrograde cholangiopancreatography (ERCP). She underwent a cholecystectomy, removal of the dilated bile duct, and hepaticojejunoduodenostomy (jejunal interposition) on June 15. Operative cholangiography showed a dilatation of the intrahepatic bile duct. No histologic malignancy was found in the removed bile duct. The postoperative course was uneventful, and she was discharged 3 weeks after the last operation.
Fig 1.
ERCP shows a fusiform-shaped dilatation of the bile
duct with AP-BDJ.
A fusiform-shaped dilatation of the bile duct and an AP-BDJ were discovered by using ERCP (Fig 1). She underwent a cholecystectomy, removal of the dilated bile duct, and hepaticojejunostomy in a Roux-en-Y fashion on February 6. The level of amylase in the bile taken from the gallbladder was 1400 x lo4 units/dL. The removed bile duct was histologically not malignant. The postoperative course was uneventful and she was discharged 15 days after the operation. REVIEW
OF THE LITERATURE
Fourteen cases, or seven pairs, of familial occurrence of CBD, including our cases, were collected in the literature (Table 1). All were found only in the
Case 2 C.S. (the third child of case I), a 31-month-old girl was admitted to the Niigata University Hospital with complaints of abdominal pain and a low-grade fever on January 281987. Examination of her blood showed an red blood cell count of 485 x lO’/mm’, white blood cell count of 10,WO/mm3, and hemoglobin of 11.9 g/dL. The liver function tests showed serum total bilirubin of 0.2 mg/dL, GOT of 35 units/dL, GPT of 16 units/dL, LDH of 678 units/dL, and alkaline phosphatase of 416 units/dL (AACC reference method for the measurement of alkaline phosphatase).
Journal
of Pediatric
Surgery,
Vol 25, No 3 (March), 1990: pp 353-355
From the Department of Pediatric Surgery, Niigata University Hospital, and the Department of Surgery, Niigata Shimin Hospital, Niigata, Japan. Address reprint requests to Makoto Iwafichi, MD. Department of Pediatric Surgery, Niigata University Hospital. I-Asahimachi. Niigata. 951 Japan. 8 1990 by W.B. Saunders Company. 0022-3468/90/2503-0022$03,00/0 353
354
IWAFUCHI ET AL
Table 1. Familial Occurrence
studv Chiba et al’
Case NO.
Aae/SeX
CBD
of Congenital
AP-BDJ
Bile Duct Dilation Value of Bile Amvlase
FamilyTree
Combination
1
4ylOmolF
+
High
Sister
2
3y9mo/F
+
High
Sister 6
Hiraki et al2
3
32v/M
+
Father 33
lwama et al3
Akiyama et al4
Date et al’
lwafuchi et al
4
2v/F
+
Daughter
5
48y/F*
+
Mother
6
1 WF
+
Daughter
7
45ylF
-
+
Mother
6
17Y/M
+
+
son
9
34vlF
+
-
Mother
10
3mo/F
+
2
23
1
x
b
Daughter 7
11
7Y/M
+
12
1Ov/F
+
High
13
25~1~
+
High
+
High
I 14
2y7mo/F
Daughter 70
I
0
1 62
4 NOTE. 0, affected female; 0. healthy female:
n, affected
male: 0, healthy male: number indicates the age of the patient.
*Cancer of bile duct.
Japanese literature. The combinations were as follows: two sisters, one pair’; a father and a daughter, one pair2; a mother and a son, one pair3; a mother and a daughter, three pairs3*4; a brother and a sister, one pair.’ All had CBD except one, in whom ERCP showed only the existence of AP-BDJ. The sex ratio of these familial cases was 1 male to 3.7 females, not different from the ratio of 1 to 2.6 that was previously reported by Komi et al.6 AP-BDJ was recognized in 10 cases. Cases 5 and 9 have not yet undergone ERCP, and only case 10 has no AP-BDJ. Evidence of AP-BDJ was not confirmed in case 12, in which the value of bile amylase was high.’ The value of bile amylase measured at operation was high in five cases. In the remaining cases the level of bile amylase was not described. Cancer of the bile duct was histologically diagnosed
in two patients who had undergone operations, at age of 34 and 48, respectively. DISCUSSION
In the literature, seven pairs of familial occurrence of CBD, including our own cases, were found, which suggests the possibility of hereditary CBD. A close relationship between CBD and AP-BDJ has been reported and generally confirmed to date.’ But, it is true that there are a few cases of CBD not accompanied by AP-BDJ, and that the presence of AP-BDJ does not necessarily cause a formation of CBD. The fact that of the 12 patients listed in Table 1 undergoing examination for AP-BDJ, 10 are associated with AP-BDJ, seems to suggest that there is a close relationship between CBD and AP-BDJ. According to these findings, if CBD is an inherited condition, AP-BDJ might be an inherited condition as well.
FAMILIAL
355
OCCURRENCE OF BILE DUCT DILATATION
As to the inheritance pattern of CBD, Iwama et al’ suggested two possibilities (1) X-linked dominant trait, and (2) autosomal trait being prevalent in females. However, it is difficult to discuss the hereditary pattern of CBD in detail because there are only insufficient and incomplete data available from the literature. In order
to discuss the possibility of hereditary condition of CBD, it would be necessary to accumulate more cases with confirmation of the relationship between CBD and AP-BDJ. Therefore, it is recommended that an Echogram and ERCP examination be performed on all the family members of patients who have CBD.
REFERENCES 1. Chiba T, Ohashi E, Uchida T, et al: Congenital bile duct
dilatation in siblings. Z Kinderchir 32:188-190, 1981 2. Hiraki M, Yano H, Tomita T, et al: Congenital biliary ductal dilatation which occurred in a father and his daughter. J Jpn Sot Pediatr Surg 18:413, 1982 (in Japanese) 3. Iwama T, Iwata S, Murakami S, et al: Congenital bile duct dilatation-Possibly a hereditary condition. Jpn J Surg 15:501-505, 1985 4. Akiyama T, Nagakawa T, Maeda M, et al: Congenital biliary
dilatation occurring in a mother and her daughter. The Biliary Tract and Pancreas 7:905-910, 1986 (in Japanese) 5. Date M, Sugimoto S, Kawasaki S, et al: Familial congenital cystic dilatation of common bile duct. Jpn J Gastroenterol Surg 20:2631-2634, 1987 (in Japanese) 6. Komi N, Kuramoto M, Udaka H, et al: Congenital biliary dilatation in Japan. Tokushima J Exp Med 28:91-95, 1981 7. Juda Z, Babbitt DP, Starshak RJ, et al: Anatomic observations and etiologic and surgical consideration in choledochal cyst. J Pediatr Surg 14:315-320, 1979
