Pancreatic Insufficiency Is Not a Prevalent Problem in Alagille Syndrome

被引：13

作者：

Kamath, Binita M. ^{[1
,2
]}

Piccoli, David A. ^{[3
]}

Magee, John C. ^{[4
]}

Sokol, Ronald J. ^{[5
,6
]}

机构：

[1] Hosp Sick Children, Div Gastroenterol Hepatol & Nutr, Toronto, ON M5G 1X8, Canada

[2] Univ Toronto, Toronto, ON, Canada

[3] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[4] Univ Michigan, Ann Arbor, MI 48109 USA

[5] Childrens Hosp Colorado, Aurora, CO USA

[6] Univ Colorado, Sch Med, Aurora, CO USA

来源：

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION | 2012年 / 55卷 / 05期

关键词：

cholestatic liver disease; fecal elastase; pancreas; steatorrhea; INTERLOBULAR BILE-DUCTS; NOTCH2; MUTATIONS; PAUCITY;

D O I：

10.1097/MPG.0b013e31825eff61

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Alagille syndrome (ALGS) is an inherited multisystem disorder in which pancreatic insufficiency (PI) has been regarded a minor but important clinical manifestation. As part of a multicenter prospective study, 42 patients with ALGS underwent fecal elastase (FE) measurement to screen for exocrine PI. FE measurements were normal (>200 mu g/g) in 40 (95%) and indeterminate (100-200 mu g/g) in 2 (5%). As FE is the most reliable screen for PI, these data suggest that PI is not a prevalent problem in ALGS.

引用

页码：612 / 614

页数：3

共 10 条

[1] SYNDROMIC PAUCITY OF INTERLOBULAR BILE-DUCTS (ALAGILLE SYNDROME OR ARTERIOHEPATIC DYSPLASIA) - REVIEW OF 80 CASES
ALAGILLE, D
ESTRADA, A
HADCHOUEL, M
GAUTIER, M
ODIEVRE, M
DOMMERGUES, JP
[J]. JOURNAL OF PEDIATRICS, 1987, 110 (02) : 195 - 200
[2] HEPATIC DUCTULAR HYPOPLASIA ASSOCIATED WITH CHARACTERISTIC FACIES, VERTEBRAL MALFORMATIONS, RETARDED PHYSICAL, MENTAL AND SEXUAL DEVELOPMENT, AND CARDIAC MURMUR
ALAGILLE, D
ODIEVRE, M
GAUTIER, M
DOMMERGUES, JP
[J]. JOURNAL OF PEDIATRICS, 1975, 86 (01) : 63 - 71
[3] How useful is fecal pancreatic elastase 1 as a marker of exocrine pancreatic disease?
Beharry, S
Ellis, L
Corey, M
Marcon, M
Durie, P
[J]. JOURNAL OF PEDIATRICS, 2002, 141 (01) : 84 - 90
[4] EXOCRINE PANCREATIC INSUFFICIENCY IN SYNDROMIC PAUCITY OF INTERLOBULAR BILE-DUCTS
CHONG, SKF
LINDRIDGE, J
MONIZ, C
MOWAT, AP
[J]. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1989, 9 (04) : 445 - 449
[5] Jagged1 is a competitive inhibitor of Notch signaling in the embryonic pancreas
Golson, Maria L.
Le Lay, John
Gao, Nan
Braemswig, Nuria
Loomes, Kathleen M.
Oakey, Rebecca
May, Catherine L.
White, Peter
Kaestner, Klaus H.
[J]. MECHANISMS OF DEVELOPMENT, 2009, 126 (8-9) : 687 - 699
[6] NOTCH2 mutations in Alagille syndrome
Kamath, Binita Maya
Bauer, Robert C.
Loomes, Kathleen M.
Chao, Grace
Gerfen, Jennifer
Hutchinson, Anne
Hardikar, Winita
Hirschfield, Gideon
Jara, Paloma
Krantz, Ian D.
Lapunzina, Pablo
Leonard, Laura
Ling, Simon
Ng, Vicky Lee
Phuc Le Hoang
Piccoli, David A.
Spinner, Nancy Bettina
[J]. JOURNAL OF MEDICAL GENETICS, 2012, 49 (02) : 138 - 144
[7] Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
Li, LH
Krantz, ID
Deng, Y
Genin, A
Banta, AB
Collins, CC
Qi, M
Trask, BJ
Kuo, WL
Cochran, J
Costa, T
Pierpont, MEM
Rand, EB
Piccoli, DA
Hood, L
Spinner, NB
[J]. NATURE GENETICS, 1997, 16 (03) : 243 - 251
[8] NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
McDaniell, Ryan
Warthen, Daniel M.
Sanchez-Lara, Pedro A.
Pai, Athma
Krantz, Ian D.
Piccoli, David A.
Spinner, Nancy B.
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (01) : 169 - 173
[9] Rethinking growth failure in Alagille syndrome: The role of dietary intake and steatorrhea
Rovner, AJ
Schall, JI
Jawad, AF
Piccoli, DA
Stallings, VA
Mulberg, AE
Zemel, BS
[J]. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 2002, 35 (04) : 495 - 502
[10] Towards the ideal quantitative pancreatic function test: Analysis of test variables that influence validity
Schibli, S
Corey, M
Gaskin, KJ
Ellis, L
Durie, PR
[J]. CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2006, 4 (01) : 90 - 97

← 1 →