studies

1036A AASLD ABSTRACTS HEPATOLOGY, October, 2015
1696
Diagnostic determination system for high-risk screening
for inborn errors of bile acid metabolism: Results during
20 years in East Asia
Nakayuki Naritaka 1 , Mitsuyoshi Suzuki 1 , Hajime Takei 2 , Akihiko
Kimura 3 , Takao Kurosawa 4 , Takashi Iida 5 , Hiroshi Nittono
2 , Toshiaki Shimizu 1 ; 1 Pediatrics, Juntendo University Faculty
of Medicine, Tokyo, Japan; 2 Junshin Clinic bile acid institute,
Tokyo, Japan; 3 Pediatrics, Kurume University School of Medicine,
Fukuoka, Japan; 4 Faculty of Pharmaceutical Sciencies, Health Services
University of Hokkaido, Hokkaido, Japan; 5 Nihon University
College of Humanities and Sciences, Tokyo, Japan
BACKGROUND: Some patients with cholestasis of unknown
cause may have inborn errors of bile acid metabolism (IEBAM),
leading to abnormalities of bile acid biosynthesis. Although
many types of bile acid synthesis defects have been reported
for this disorder, no detailed information on its incidence and
other aspects in East Asia has been available. To elucidate the
current status of IEBAM, in July 1996, a diagnostic determination
system was established for high-risk screening for IEBAM.
METHODS: The target patients included children with hepatic
disorders for which the cause could not be identified on conventional
liver function testing or hepatitis virus testing, patients
with liver cirrhosis of unknown etiology, sibling cases, and
patients with cholestasis who exhibited serum levels of direct
bilirubin (D-Bil) was ^2.0mg/dL,besides total bile acid and
γ-glutamyltranspeptidase (GGT) were within the normal range.
Urine samples were sent to the Bile Acid Institute which located
in Tokyo, via refrigerated delivery service or impregnated filter
paper with sufficient urine volume. The samples were analyzed
during the 20 years between July 1996 and May 2015.Urinary
bile acids were analyzed via gas chromatography–mass
spectrometry (GC/MS) or liquid chromatography-tandem mass
spectrometry (LC-MS/MS). RESULTS: In 960 cases analyzed
over a 20-year period, 12 samples were differentially diagnosed
with IEBAM, including: 3β-hydroxy-Δ 5 -C 27
-steroid dehydrogenase/isomerase
deficiency in 5 (2 in Japan, 2 in China,
1 in Thailand), 3-oxo-Δ 4 -steroid 5β-reductase deficiency in 3
(all in Japan), oxysterol 7α-hydroxylase deficiency in 3 (1 in
Japan, 2 in Taiwan), bile acid-CoA amino acid N-acyltransferase
deficiency in 1 (speculated in Thailand). Especially in
Japanese cases, 2 cases each of 3β-hydroxy-Δ 5 -C 27
-steroid
dehydrogenase/isomerase deficiency and 3-oxo-Δ 4 -steroid
5β-reductase deficiency were effectively treated with oral bile
acid therapy. The third case of 3-oxo-Δ 4 -steroid 5β-reductase
deficiency had spontaneous remission without oral therapy. The
Japanese case of oxysterol 7α-hydroxylase deficiency underwent
successful heterozygous living donor liver transplantation.
CONCLUSIONS: Twelve patients were identified with cholestasis
of unknown cause in East Asia during 20 years. IEBAM is
a rare hereditary disease; therefore, much cost and labor is
spent to make a definitive diagnosis via genetic analysis. The
diagnostic determination system with urinalysis is considered
useful for diagnosis and treatment planning, and furthermore,
contributes to improved treatment efficacy for IEBAM.
Disclosures:
The following authors have nothing to disclose: Nakayuki Naritaka, Mitsuyoshi
Suzuki, Hajime Takei, Akihiko Kimura, Takao Kurosawa, Takashi Iida, Hiroshi
Nittono, Toshiaki Shimizu
1697
Role of transient elastography to differentiate children
with biliary atresia from other causes of neonatal
cholestasis
Bikrant B. Lal, Rajeev Khanna, Vikrant Sood, Dinesh Rawat, Seema
Alam; DEPARTMENT OF PEDIATRIC HEPATOLOGY, INSTITUTE
OF LIVER AND BILIARY SCIENCES, New Delhi, India
Transient elastography is an important non-invasive tool to
detect fibrosis. Children with biliary atresia need to be diagnosed
early as outcome post Kasai surgery depends on age at
operation. Fibroscan can serve as an important non-invasive
tool and an alternative to liver biopsy. Objective: To study the
role of transient elastography to differentiate biliary atresia
from neonatal hepatitis. To evaluate its efficacy in predicting
outcome post kasai portoenterostomy. Methodology: All
patients with neonatal cholestasis were included in the study
and evaluated as per the instituitional protocol. Transient elastography
(TE) was done in a 4-hour fasting state using Fibro-
Scan502, Echosens, Paris, France. Median of 10 successful
readings was taken and values with IQR>30% or success rate
of