Current state of Wilson disease patients in central Japan
スポンサーリンク
概要
- 論文の詳細を見る
Objective This study evaluated the current state of patients with Wilson disease in central Japan. Patients and Methods Between 1999 and 2007, 30 patients were diagnosed as having Wilson disease withan International Diagnostic Score of 4 or more. The phenotypes, genotypes and post-diagnostic courses of these patients were analyzed. Results Twenty-six patients had ATP7B mutations responsible for Wilson disease. Four patients had a single mutant chromosome. There were 2 major mutations of 2333 G>T and 2871 delC (40%), and 6 novel mutations (13%) in our patients. The first clinical manifestation was the hepatic form in 22, neurological form in 5, and hemolysis in 3 patients. The hepatic form was diagnosed around the age of 13 years, followed by neurological complication with a time lag of 9 years. Thus, some patients, especially patients with the neurological form, did not undergo early diagnostic tests including ATP7B analysis. During the post-diagnosis period, 3 patients were hospitalized for recurrent liver disease, and 2 patients committed suicide. One female patient died from acute hepatic failure associated with encephalopathy after fertilization therapy, while 2 male patients recovered from encephalopathy-free, prolonged hepatic failure after noncompliance with drug therapy. The King's Scores for liver transplantation were below the cut-off in both cases. Conclusion To minimize delayed diagnosis, ceruloplasmin determination and ATP7B analysis may be recommended to patients showing hepatic damage of unknown etiology. At gene diagnosis, appropriate management of patients including compliance education and emotional care to prevent suicide might be important. 2010 The Japanese Society of Internal Medicine. © 2010 The Japanese Society of Internal Medicine.
- Japanese Society of Internal Medicine = 日本内科学会の論文
著者
-
Yano Motoyoshi
Department Of Gastroenterology Yokkaichi City Hospital
-
KATANO Yoshiaki
Department of Gastroenterology, Nagoya University Graduate School of Medicine
-
Tatsumi Yasuaki
Department Of Legal Medicine Kanazawa University School Of Medicine
-
Hattori Ai
Department Of Medicine Aichi Gakuin University School Of Pharmacy
-
Kaneko Shuichi
Disease Control And Homeostasis Graduate School Of Medical Science Kanazawa University
-
Hayashi Kazuhiko
Department Of Gastroenterology Aichi Cancer Center Hospital
-
IMOTO Masami
Department of Internal Medicine
-
Goto Hidemi
Department Of Gastroenteralogy Nagoya University Graduate School Of Medicine
-
Katano Yoshiaki
Department Of Gastroenterology Nagoya University School Of Medicine
-
Hayashi Hisao
Department Of Medicine Aichi Gakuin University School Of Pharmacy
-
Hayashi Hisao
Department of Medicine, Aichi Gakuin University School of Pharmacy
-
Hayashi Kazuhiko
Department of Gastroenterology, Nagoya University Graduate School of Medicine
-
Ikoma Jiro
Mie-Syokaki Clinic
-
Kaito Masahiko
Mie-Syokaki Clinic
-
Wakusawa Shinya
Division of Medical Technology, Nagoya University School of Health Sciences
-
Okada Toshihide
Disease Control and Homeostasis, Kanazawa University Graduate School of Medical Science
-
HAYASHI Kazuhiko
Department of Advanced Prosthodontics, Division of Cervico-Gnathostomatology, Programs for Applied Biomedicine, Hiroshima University Graduate School of Biomedical Sciences
-
KATANO Yoshiaki
Department of Gastroenterology and Hepatology, Nagoya University Graduate School of Medicine
-
GOTO Hidemi
Department of Endoscopy, Nagoya University Hospital
-
TATSUMI Yasuaki
Department of Medicine, Aichi Gakuin University School of Pharmacy
関連論文
- Adhesive Interaction of Highly Malignant Hepatoma AH66F Cells with Mesothelial Cells
- Effect of sevelamer hydrochloride on markers of bone turnover in Japanese dialysis patients with low biointact PTH levels
- Effects of 1-O-hexyl-2,3,5-trimethylhydroquinone on carbon tetrachloride-induced hepatic cirrhosis in rats
- A significant reduction in serum alanine aminotransferase levels after 3-month iron reduction therapy for chronic hepatitis C : a multicenter, prospective, randomized, controlled trial in Japan
- Immunoelectron microscopy study on the expression of T-cell markers in human T-lymphotropic virus type II-(HTLV-II-) producing cells
- Primary Gastric T-cell Lymphoma Associated with Human T-cell Leukemia Virus Type I show 'Lymphoepithelial Lesions' : Case report
- PJ-232 Alterd Interaction between Plasminogen Activator Inhibitor Type 1 Activity and Sympathetic Nerve Activity with Aging(Atherosclerosis,clinical(10)(IHD),Poster Session(Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- PE-033 Altered Firing Pattern of Single-unit Sympathetic Vasoconstrictor Fibers during Exercise in Chronic Heart Failure(Autonomic nervous system(03)(H),Poster Session(English),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- USEFUL ENDOSCOPIC ULTRASONOGRAPHY TO ASSESS THE EFFICACY OF NEOADJUVANT THERAPY FOR ADVANCED ESOPHAGEAL CARCINOMA : BASED ON THE RESPONSE EVALUATION CRITERIA IN SOLID TUMORS
- Preoperative Evaluation of Lymph Node Metastasis in Esophageal Cancer
- Expression of apoptosis-related proteins (p53, p21^, bcl-2, and bax) and sensitivity to chemotherapy in squamous cell carcinoma of the esophagus
- Analysis of Postoperative Complications after Esophagectomy for Esophageal Cancer in Patients receiving Neoadjuvant Therapy
- An Evaluation of the Efficacy of Preoperative Therapy for Thoracic Esophageal Carcinoma Using Endoscopic Ultrasonography
- Expression of p53 Protein Related to Human Papillomavirus and DNA Ploidy in Superficial Esophageal Carcinoma
- LINEAR AND CURVED-LINEAR (CONVEX) ENDOSCOPIC ULTRASONOGRAPHY : THE PRESENT SITUATION AND ROLES IN THE FUTURE
- Randomized controlled trial of twice-a-day administration of natural interferon β for chronic hepatitis C
- 0409 PREVALENCE OF ACTIVATED PROTEIN C RESISTANCE IN YOUNG ACUTE MYOCARDIAL INFARCTION(AMI)IN JAPAN
- Significance of CXCR3 expression in gastric low-grade B-cell lymphoma of mucosa-associated lymphoid tissue type for predicting responsiveness to Helicobacter pylori eradication
- Fibrocyte : New participant in the pathogenesis of renal fibrosis
- The role of fibrocytes in progressive renal fibrosis
- Fecal pancreatic elastase : a reproducible marker for severe exocrine pancreatic insufficiency
- ENDOCYTOSCOPY FOR ESOPHAGEAL CANCER EX VIVO
- Efficacy of rebamipide for diclofenac-induced small-intestinal mucosal injuries in healthy subjects : a prospective, randomized, double-blinded, placebo-controlled, cross-over study
- Partial esophagectomy for a superficial carcinoma arising from the mid-esophageal diverticulum
- Optimal amount of monocyte chemoattractant protein-1 enhances antitumor effects of suicide gene therapy against hepatocellular carcinoma by M1 macrophage activation
- A Patient with Chronic Hepatitis C Who Obtained Sustained Response by Retreatment of Interferon after Decrease of Viral Load and Mutation in Interferon Sensitivity Determining Region
- Histological diagnosis of autoimmune pancreatitis using EUS-guided trucut biopsy : a comparison study with EUS-FNA
- Special stain and X-ray probe microanalysis of livers with Wilson disease
- Genetic background of Japanese patients with adult-onset storage diseases in the liver
- Compound overload of copper and iron in patients with Wilson's disease
- Iron removal by phlebotomy for the prophylaxis of fulminant hepatitis in a Wilson disease model of Long-Evans Cinnamon Rats
- Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan
- Improvement of serum bilirubin levels after venesection in a patient with Dubin-Jonson syndrome and HCV-positive chronic liver disease
- Identification of a novel 2026G→C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome
- AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis
- C282Y and H63D Mutations in the HFE Gene Have No Effect on Iron Overload Disorders in Japan
- Body iron stores and Iron restoration rate in Japanese patients with chronic Hepatitis C as measured during therapeutic Iron removal revealed neither Increased body iron stores nor effects of C282y and H63d mutations on iron indices
- Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease
- Combined phlebotomy and ursodeoxycholic acid treatment in the patients with chronic hepatitis C
- Electron microscopic findings of the liver of a patient with Dubin-Johnson syndrome complicated by chronic hepatitis C and iron overload
- Hepatotoxic iron storage in patients with chronic hepatitis C but no hepatic iron detectable histochemically
- Association of hepatitis B virus subgenotypes and basal core promoter/precore region variants with the clinical features of patients with acute hepatitis
- Use of the Model for End-Stage Liver Disease (MELD) score to predict 1-year survival of Japanese patients with cirrhosis and to determine who will benefit from living donor liver transplantation
- Changes in circulating cytokine levels and lymphocyte subsets in healthy liver donors after partial hepatectomy
- The fluctuations of viral load and serum alanine aminotransferase levels in chronic hepatitis C
- Comparison of contrast-enhanced harmonic ultrasonography and power Doppler ultrasonography for depicting vascularity of hepatocellular carcinoma identified by angiography-assisted CT
- Real-time detection system for quantitation of hepatitis C virus RNA : a comparison with the other three methods
- In vivo Cisplatin Resistance Depending upon Canalicular Multispecific Organic Anion Transporter (cMOAT)
- NEW OBJECTIVE EVALUATION METHOD FOR FUNCTIONAL BOWEL DISORDER USING VIDEO CAPSULE ENDOSCOPY
- ENDOSCOPIC APPROACH TO THE PANCREATOBILIARY TRACT USING NARROW BAND IMAGING
- MANAGEMENT OF INTRADUCTAL PAPILLARY MUCINOUS NEOPLASM OF THE PANCREAS
- Progress of endoscopic ultrasonography and intraductal ultrasonography in the diagnosis of malignant biliary diseases
- PRESENT SITUATION OF EUS-FNAB IN OUR INSTITUTE AND FUTURE APPROPRIATE DIRECTION OF THIS PROCEDURE IN JAPAN
- FUTURE TRENDS IN ENDOSCOPIC ULTRASONOGRAPHY IN JAPAN
- The Advantage of Gastrectomized Patients in Management of their Chronic Hepatitis C
- Selective Phosphodiesterase Type 4 Inhibitors Reduce the Prolonged Survival of Eosinophils Stimulated by Granulocyte-Macrophage Colony-Stimulating Factor
- Induction of Histamine Release from Rat Peritoneal Mast Cells by Histatins
- Possible involvement of the interleukin-15 and interleukin-15 receptor system in a heightened state of lamina propria B cell activation and differentiation in patients with inflammatory bowel disease
- Effect of Oral Administration of High Advanced-Collagen Tripeptide (HACP) on Bone Healing Process in Rat
- Development of New Drug Delivery System for Implant Bone Augmentation Using a basic Fibroblast Growth Factor-gelatin Hydrogel Complex
- Development of Cell-hybrid Artificial Bone : Effect of Osteogenic Differentiation of Bone Marrow Stromal Stem Cells on Bone Formation with Newly Developed Interconnected Porous Calcium Hydroxyapatite
- Route selection for double-balloon endoscopy, based on capsule transit time, in obscure gastrointestinal bleeding
- Establishment of an interpretation system for video capsule endoscopy for obscure gastrointestinal bleeding
- Antipyretic Activity of Gingyo-san, a Traditional Medicine, in Influenza Virus-Infected Mice
- Efficacy of Kampo medicines on cutaneous herpes simplex virus type 1 infection in mice
- In Vivo Fungicidal Effect of KP-103 in a Guinea Pig Model of Interdigital Tinea Pedis Determined by Using s New Method for Removing the Antimycotic Carryover Effect
- KP-103, Novel Triazole Derivative, Is Effective in Preventing Relapse and Successfully Treating Experimental Interdigital Tinea Pedis and Tinea Corporis in Guinea Pigs
- Synthesis and Antifungal Activities of (2R, 3R)-2-Aryl-1-azolyl-3-(substituted amino)-2-butanol Derivatives as Topical Antifungal Agents
- Large Duodenal Somatostatinoma in the Third Portion Associated with Severe Glucose Intolerance
- Study of the Si(111)"1 × 1"-An Surface Using Reflection High-Energy Electron Diffraction and Scanning Tunneling Microscopy
- CLINICAL MALIGNANCY RISK OF GIST ASSESSED BY ENDOSCOPIC ULTRASONOGRAPHY
- PREDICTORS OF A RESPONSE TO CYCLOSPORINE OR LEUKOCYTE REMOVAL THERAPY IN PATIENTS WITH REFRACTORY ULCERATIVE COLITIS
- Immunomodulatory therapy for inflammatory bowel disease
- Prenatal Diagnosis of Duchenne Muscular Dystrophy (DMD) by the Polymerase Chain Reaction (PCR)
- Reconstructions of 6H-SiC(0001) Surfaces Studied by Scanning Tunneling Microscopy and Reflection High-Energy Electron Diffraction
- SUPERFICIAL BARRETT'S ESOPHAGEAL CANCER OBSERVED BY MAGNIFYING ENDOSCOPY
- Molecular Systematics of the Genus Uvularia and Selected Liliales Based upon matK and rbcL Gene Sequence Data(Systematic Biology)
- Molecular systematics in the genus Clintonia and related taxa based on rbcL and matK gene sequence data
- Patients with Chronic Hepatitis C May be More Sensitive to Iron Hepatotoxicity than Patients with HFE-Hemochromatosis
- Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders
- Impact of early elevation of serum bilirubin during treatment with pegylated interferon and ribavirin in patients with chronic hepatitis C
- Initial bone regeneration around fenestrated implants in Beagle dogs using basic fibroblast growth factor-gelatin hydrogel complex with varying biodegradation rates
- Multidisciplinary treatment with and without hyperthermia for ovarian carcinoma
- Establishment and Characterization of a Novel Cancer Cell Line SMOV-1, Derived from the Ascitic Fluid of a Woman with Ovarian Cancer Who Had Never Responded to Chemotherapeutic Drugs
- Benign clear (sugar) cell tumor of the lung with CD1a expression
- Helicobacter pylori and gastric diseases
- Different effect of HBV vaccine after liver transplantation between chronic HBV carriers and non-HBV patients who received HBcAb-positive grafts
- Formation of Three-Dimensional Silicon Mounds on the Si(111) 7 × 7 Surface Using the Tip of a Scanning Tunneling Microscope : Surfaces, Interfaces, and Films
- IS NASOBILIARY DRAINAGE UNNECESSARY FOR DRAINAGE OF ACUTE SUPPURATIVE CHOLANGITIS? OUR EXPERIENCE
- Gastrectomy and chemotherapy with S-1 for gastric cancer in a patient with acquired immunodeficiency syndrome
- Primary gastrointestinal follicular lymphoma involving the duodenal second portion is a distinct entity : A multicenter, retrospective analysis in Japan
- A case of solid-pseudopapillary neoplasm, focusing on contrast-enhanced endoscopic ultrasonography
- Contrast-enhanced US of ampullary carcinoma : correlations with pathological findings
- A case of pyometra treated with endoscopic ultrasound-guided drainage
- Liver structures of a patient with idiopathic copper toxicosis
- Lymphohistiocytoid mesothelioma of the pleura
- Current state of Wilson disease patients in central Japan
- Iron chelation therapy for a case of transfusion-independent MDS-RARS with significant iron overload
- Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment
- Prognosis of Myocardial Infarction With Left Ventricular Dysfunction in the Coronary Revascularization Era:– Subanalysis of the Japanese Coronary Artery Disease (JCAD) Study –