Abstract
Background and aim: Low gamma-glutamyltranspeptidase (γ-GTP) familial intrahepatic cholestasis is a broad-spectrum condition that ranges from mild to severe. Severe forms of low γ-GTP familial intrahepatic cholestasis, including progressive familial intrahepatic cholestasis type-1 and -2 (PFIC-1 and PFIC-2), present with symptoms of cholestasis early in life and may progress to cirrhosis. Methods: We included five patients with low γ-GTP, cholestasis and hyperbilirubinemia. We analyzed clinicopathological features of these five cases. Results: The age of the patients at diagnosis ranged from 1 month to 1 year old. All patients presented with jaundice, and one experienced pruritus. In contrast to hyperbilirubinemia, serum γ-GTP levels were relatively low, or within normal range. Microscopically, intracanalicular cholestasis, bile duct loss or atrophy and varying degrees of fibrosis were found in all of the cases, whereas giant cell formation of hepatocytes was detected in three cases. Anti-ABCB11 immunostaining revealed loss of expression in three cases with diffuse giant cell transformation of hepatocytes but retained expression in one case with no giant cell transformation. Conclusions: Low γ-GTP familial intrahepatic cholestasis (PFIC-1 and PFIC-2) should be considered a differential diagnosis when pediatric patients with cholestatic liver diseases associated with normal to low serum γ-GTP levels relative to the extent of cholestasis.
| Original language | English |
|---|---|
| Pages (from-to) | 126-133 |
| Number of pages | 8 |
| Journal | Basic and Applied Pathology |
| Volume | 3 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2010 Dec 1 |
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All Science Journal Classification (ASJC) codes
- Pathology and Forensic Medicine
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Clinicopathological features of severe forms of low gamma-glutamyltranspeptidase familial intrahepatic cholestasis in Korean pediatric patients. / Kwon, Hyeong Ju; Go, Heounjeong; Kim, Soo Hee; Ko, Jae Sung; Seo, Jeong Kee; Kang, Gyeong Hoon.
In: Basic and Applied Pathology, Vol. 3, No. 4, 01.12.2010, p. 126-133.Research output: Contribution to journal › Article
TY - JOUR
T1 - Clinicopathological features of severe forms of low gamma-glutamyltranspeptidase familial intrahepatic cholestasis in Korean pediatric patients
AU - Kwon, Hyeong Ju
AU - Go, Heounjeong
AU - Kim, Soo Hee
AU - Ko, Jae Sung
AU - Seo, Jeong Kee
AU - Kang, Gyeong Hoon
PY - 2010/12/1
Y1 - 2010/12/1
N2 - Background and aim: Low gamma-glutamyltranspeptidase (γ-GTP) familial intrahepatic cholestasis is a broad-spectrum condition that ranges from mild to severe. Severe forms of low γ-GTP familial intrahepatic cholestasis, including progressive familial intrahepatic cholestasis type-1 and -2 (PFIC-1 and PFIC-2), present with symptoms of cholestasis early in life and may progress to cirrhosis. Methods: We included five patients with low γ-GTP, cholestasis and hyperbilirubinemia. We analyzed clinicopathological features of these five cases. Results: The age of the patients at diagnosis ranged from 1 month to 1 year old. All patients presented with jaundice, and one experienced pruritus. In contrast to hyperbilirubinemia, serum γ-GTP levels were relatively low, or within normal range. Microscopically, intracanalicular cholestasis, bile duct loss or atrophy and varying degrees of fibrosis were found in all of the cases, whereas giant cell formation of hepatocytes was detected in three cases. Anti-ABCB11 immunostaining revealed loss of expression in three cases with diffuse giant cell transformation of hepatocytes but retained expression in one case with no giant cell transformation. Conclusions: Low γ-GTP familial intrahepatic cholestasis (PFIC-1 and PFIC-2) should be considered a differential diagnosis when pediatric patients with cholestatic liver diseases associated with normal to low serum γ-GTP levels relative to the extent of cholestasis.
AB - Background and aim: Low gamma-glutamyltranspeptidase (γ-GTP) familial intrahepatic cholestasis is a broad-spectrum condition that ranges from mild to severe. Severe forms of low γ-GTP familial intrahepatic cholestasis, including progressive familial intrahepatic cholestasis type-1 and -2 (PFIC-1 and PFIC-2), present with symptoms of cholestasis early in life and may progress to cirrhosis. Methods: We included five patients with low γ-GTP, cholestasis and hyperbilirubinemia. We analyzed clinicopathological features of these five cases. Results: The age of the patients at diagnosis ranged from 1 month to 1 year old. All patients presented with jaundice, and one experienced pruritus. In contrast to hyperbilirubinemia, serum γ-GTP levels were relatively low, or within normal range. Microscopically, intracanalicular cholestasis, bile duct loss or atrophy and varying degrees of fibrosis were found in all of the cases, whereas giant cell formation of hepatocytes was detected in three cases. Anti-ABCB11 immunostaining revealed loss of expression in three cases with diffuse giant cell transformation of hepatocytes but retained expression in one case with no giant cell transformation. Conclusions: Low γ-GTP familial intrahepatic cholestasis (PFIC-1 and PFIC-2) should be considered a differential diagnosis when pediatric patients with cholestatic liver diseases associated with normal to low serum γ-GTP levels relative to the extent of cholestasis.
UR - http://www.scopus.com/inward/record.url?scp=78851470762&partnerID=8YFLogxK
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U2 - 10.1111/j.1755-9294.2010.01092.x
DO - 10.1111/j.1755-9294.2010.01092.x
M3 - Article
AN - SCOPUS:78851470762
VL - 3
SP - 126
EP - 133
JO - Basic and Applied Pathology
JF - Basic and Applied Pathology
SN - 1755-9294
IS - 4
ER -