Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2.

Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Abstract Text:

Atsushi Takahashi,Makoto Hasegawa,Ryo Sumazaki,Makoto Suzuki,Fumiaki Toki,Taketoshi Suehiro,Kazumichi Onigata,Takeshi Tomomasa,Tomoko Suzuki,Akira Matsui,Akihiro Morikawa,Hiroyuki Kuwano,

OBJECT: The authors report the case of a boy with PFIC type 2 or BRIC type 2 who suffered from liver dysfunction at 2 months after birth. METHODS AND RESULTS: A liver biopsy specimen revealed mild liver cirrhosis, and the findings resembled those observed in Byler disease. Genetic examination revealed a normal familial intrahepatic cholestasis-1 gene, but a heterozygous mutation for the ABCB11, C1620A (F540L), was observed. Therefore, the patient was initially diagnosed with PFIC type 2. For 3 years after the diagnosis, he had severe pruritus, an increased serum bile acid, and normal serum values of gamma-glutamyl transaminase. At the age of 2, treatment with administration of ursodeoxycholic acid was started; subsequently, a gradual improvement in his liver function was observed. At the age of 3, he suffered from massive intestinal and pulmonary hemorrhage, which improved immediately after the administration of vitamin K. He was then admitted to our hospital for liver transplantation. At 1 month after the admission, his liver dysfunction showed further improvement, except for a mild increase in the serum bile acid level. This condition did not show any change during the 5-year follow-up period. In addition, the patient showed severe growth failure and was diagnosed with growth hormone deficiency. Hence, he receives growth hormone administration. CONCLUSION: The patient could be genetically diagnosed with bile salt export pump disease of PFIC type 2 or BRIC type 2. Various clinical features are observed in PFIC or BRIC patients with ABCB11 mutation.

Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Publishing Authors By Initials

A Takahashi,M Hasegawa,R Sumazaki,M Suzuki,F Toki,T Suehiro,K Onigata,T Tomomasa,T Suzuki,A Matsui,A Morikawa,H Kuwano,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: European journal of gastroenterology & hepatology

VOLUME: 19

Page Numbers: 942-6

Journal Abbreviation:

ISSN: 0954-691X

DAY: 30

MONTH: Nov

YEAR: 2007

Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 9000874

Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2.

AFFILIATION: Department of General Surgical Science (Surgery I), Gunma University, Graduate School of Medicine, Gunma, Japan. takaatsu@med.gunma-u.ac.jp

Country: England

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Eur J Gastroenterol Hepatol

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2 Related Publications

• Aberrant methylation status of known methylation-sensitive CpG islands in gastrointestinal stromal tumors without any correlation to the state of c-kit and PDGFRA gene mutations and their malignancy.
• Annealing to Reduce Scattering Centers in Czochralski-Grown beta-BaB(2)O(4).
• Attaining 186-nm light generation in cooled beta-BaB(2)O(4) crystal.
• Clinical and Prognostic Significance of RhoA and RhoC Gene Expression in Esophageal Squamous Cell Carcinoma.
• Colonoscopy using an abdominal bandage.
• Connectin, an elastic protein of muscle. Identification of "titin" with connectin.
• Distribution of calcium binding proteins in sensory organs of the ear, nose and throat.
• Endoscopic clips prevent self-expandable metallic stent migration.
• Epithelial cell apoptosis and lung remodeling.
• Factors for Successful Weaning From a Percutaneous Cardiopulmonary Support System (PCPS) in Patients With Low Cardiac Output Syndrome After Cardiovascular Surgery.
• Feasibility of colonoscopy in patients 80 years of age and older.
• Feasibility study of postoperative intraperitoneal hyperthermochemotherapy by radiofrequency capacitive heating system for advanced gastric cancer with peritoneal seeding.
• Gastrointestinal motility after digestive surgery.
• Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2.
• Human mammary cancer cell mutants with altered hormone receptor activity.
• Inhibitory effect of sulfamonomethoxine on capsule formation of Bordetella bronchiseptica.
• Involvement of the transcription factor NF-kappaB in tubular morphogenesis of human microvascular endothelial cells by oxidative stress.
• Isolation of chloroquine-resistant Chinese hamster V79 cell variants that are also resistant to ammonium chloride.
• Juvenile hormone activity of ethyl 4-(2-aryloxyhexyloxy)benzoates with precocious metamorphosis-inducing activity.
• Lymphoepithelial cyst of the pancreas: report of a case.
• Mycoplasma pneumoniae-derived lipopeptides induce acute inflammatory responses in the lungs of mice.
• Potentiating effect of sennoside C on purgative activity of sennoside a in mice.
• Preclinical studies of molecular-targeting diagnostic and therapeutic strategies against breast cancer.
• Receptor protein tyrosine kinase Ron is highly expressed in colorectal mucosa of ulcerative colitis patients.
• Segmental dilatation of the ileum covered almost entirely by gastric mucosa: report of a case.
• Suzuki-miyaura coupling of diarylmethyl carbonates with arylboronic acids: a new access to triarylmethanes.
• Using endosonography to assess the effects of neoadjuvant therapy in patients with advanced esophageal cancer.
• Videofluoroscopic evaluation in oropharyngeal swallowing after radical esophagectomy with lymphadenectomy for esophageal cancer.
• [Genetic risk factor of Alzheimer's disease]
• [Serialization of collection of nursing information]