Wilson’s Disease: A Clinician's Guide to Recognition, Diagnosis, and Management

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Springer Science & Business Media, May 31, 2001 - Medical - 190 pages
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Movement disorder specialists, general neurologists, hepatologists, general gastroenterologists, and psychiatrists are the specialists who will most likely see some Wilson's disease patients during their careers. See them - yes. Recognize and diagnose them - maybe. If you are in one of these specialties, and a patient with tremor, hepatitis, cirrhosis, apparent Parkinsonism, or mood disorder, is referred to you, will you appropriately recognize the possibility that the underlying diagnosis may be Wilson's disease? Wilson's disease is both treatable and reversible, and commonly misdiagnosed. This book aims to change this with comprehensive coverage of every aspect of Wilson's disease, from well-catalogued, easy-to-use clinical diagnostic tools to treatment methods to molecular biology.
Dr. Brewer is the world's leading expert on Wilson's disease, seeing and caring for over 300 patients with the disease during the last 20 years. He is a professor of human genetics at the University of Michigan.
 

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Contents

Chapter 1 OVERVIEW OF THE DISEASE FOR THE CLINICIAN
1
CAUSE OF WILSONS DISEASE
2
INHERITANCE
3
RECOGNITION PROBLEM
4
SOME SCREENING TESTS ARE ACCURATE
5
TREATMENT AND MANAGEMENT CONCEPTS
6
PROGNOSIS
7
RECOGNIZING WILSONS DISEASE
9
Hepatic Transplantation in Wilsons Disease
85
Nonindications for Hepatic Transplantation
86
Anticopper Therapy While Awaiting Transplantation
88
Medical Therapy for Mild Hepatic Failure
89
Medical Therapy for Intermediate Hepatic Failure
91
A Disaster Resulting From A Failure To Adequately Reevaluate the Status of a Patient with Intermediate Hepatic Failure During Medical Therapy
93
INITIAL THERAPY OF PATIENTS WITH HEPATITIS
94
Initial Therapy of Patients Presenting Primarily with Cirrhosis
95

THE NEUROLOGICAL PRESENTATION
10
Disasters and Near Disasters Caused by Clinicians Failing to Diagnose Wilsons Disease Patients with a Neurologic Presentation
14
Tremor Unrecognized
15
THE HEPATIC PRESENTATION
16
Cirrhosis
17
Hepatic Failure
18
Severe Hepatic Failure
19
Mild Hepatic Failure
20
Intermediate Hepatic Failure
21
Recognition of Wilsons Disease by PsychiatristsThe Good and the Bad
24
Disasters Related to Screening Presymptomatic Patients
25
OTHER SITUATIONS IN WHICH WILSONS DISEASE MAY BE PRESENT
26
KEY POINTS WITH RESPECT TO RECOGNITION OF POSSIBLE WILSONS DISEASE
27
Chapter 3 SIMPLE APPROACHES TO SCREENING AND DEFINITIVE DIAGNOSIS
29
KayserFleischer Ring Examination
34
Not Very Useful andor Confusing Tests
35
HOW TO SCREEN PATIENTS FOR WILSONS DISEASE
36
Hepatic Presentation
38
Presymptomatic Patients
39
MAKING A DEFINITIVE DIAGNOSIS OF WILSONS DISEASE
42
Diagnostic Dilemmas
44
Other Diagnostic Dilemmas
47
Liver Copper Assay in Error
48
Chapter 4 DESCRIPTION OF THE ANTICOPPER DRUGS WHICH ARE USED IN WILSONS DISEASE THERAPY
49
Main Uses of Zinc in Wilsons Disease
51
Evidence of Uniform Efficacy of Zinc in Wilsons Disease
53
An Unusual Case of NonCompliance with Maintenance Zinc Therapy
55
Toxicity of Zinc
56
Monitoring Zinc Therapy
57
TRIENTINE
59
Evidence of Uniform Efficacy of Trientine in Wilsons Disease
60
Monitoring Trientine Therapy
61
TETRATHIOMOLYBDATE
62
Main Use of Tetrathiomolybdate in Wilsons Disease
63
Toxicity of Tetrathiomolybdate
64
Monitoring Tetrathiomolybdate Therapy
65
Evidence of Uniform Efficacy of Penicillamine in Wilsons Disease
66
Monitoring Penicillamine Therapy
68
WHATS IMPORTANT AND WHATS NOT
69
ANTICOPPER DRUG THERAPY OVERVIEWIMPORTANT
70
Monitoring for Copper andor Zinc Response Compliance
71
Monitoring for Drug Toxicity
72
DIETGENERALLY NOT IMPORTANT
73
DRINKING WATEROCCASIONALLY IMPORTANT
74
Neurologic Complications and Symptomatology
76
Psychiatric Complications and Symptomatology
77
Chapter 6 INITIAL TREATMENT OF PATIENTS WHO PRESENT WITH LIVER DISEASE
79
Triaging Patients for Hepatic Transplantation Versus Initial Medical Therapy
81
Chapter 7 INITIAL TREATMENT OF PATIENTS WHO PRESENT WITH NEUROLOGIC ANDOR PSYCHIATRIC DISEASE
97
NEUROLOGICAL WORSENING OF PATIENTS WITH INITIAL PENICILLAMINE THERAPY
98
RECOMMENDED THERAPYTETRATHIOMOLYBDATE
99
Results in an Open Study
100
Potential for Accessing Tetrathiomolybdate Therapy
101
ALTERNATIVE THERAPIES
102
Chapter 8 MAINTENANCE THERAPY
105
RECOMMENDED MAINTENANCE THERAPYZINC
106
Dietary Recommendations
107
Monitoring Zinc Therapy
108
Zinc Side Effects
109
Results of Zinc Therapy in a Large Series of Patients
110
ALTERNATIVE MAINTENANCE THERAPY
114
Penicillamine
115
Chapter 9 THERAPY OF THE PRESYMPTOMATIC THE PEDIATRIC AND THE PREGNANT PATIENT
117
Recommended Therapy for the Presymptomatic Patient Zinc
118
Near Disaster and A Disaster Using Penicillamine Therapy in Initial Therapy of Presymptomatic Patients
120
THERAPY FOR THE PEDIATRIC PATIENT
121
Need to avoid Overtreatment with Anticopper Agents in Children with Wilsons disease
122
Alternative Therapy for the Pediatric Patient
123
Teratogenicity of Anticopper Therapy
124
Alternative Therapy for the Pregnant PatientTrientine
125
Chapter 10 RISK FACTORS DURING MAINTENANCE THERAPY AND PROGNOSIS
127
Disasters Related to Poor Compliance with Anticopper Therapy
130
HEPATIC RISK FACTORS
131
Hepatic Failure
132
Infection
133
Chapter 11 DISEASE PATHOGENESIS AND GENETICS
135
NORMAL COPPER HANDLING
136
THE GENETICS OF WILSONS DISEASE
137
Gene Defect in Wilsons Disease
139
FROM GENE DEFECT TO COPPER ACCUMULATION ORGAN DAMAGE AND SYMPTOMS
143
Important Pathogenic Questions
144
ANIMAL MODELS
146
SUMMARY OF OUR KNOWLEDGE OF PATHOGENESIS
147
Chapter 12 DISEASE PATHOLOGY
149
LIVER PATHOLOGY
151
BRAIN PATHOLOGY
152
PATHOLOGY IN OTHER ORGANS
153
The Kidneys
154
The Eyes
155
HISTORY IMPORTANT MILESTONES AND THE FUTURE
157
Historical Milestones in Wilsons Disease
160
Better Screening Methods
162
Improved Compliance
163
Improved Understanding of the Gene Function
164
SUMMARY
165
Copyright

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Popular passages

Page 168 - Brewer GJ, Dick RD, Yuzbasiyan-Gurkan V, Johnson V, Wang Y. Treatment of Wilson's disease with zinc: XIII. Therapy with zinc in presymptomatic patients from the time of diagnosis. J Lab Clin Med
Page 168 - Cousins RJ, Brewer GJ. The Treatment of Wilson's Disease with Zinc: X. Intestinal Metallothionein Induction. J Lab Clin Med 120:380-386,
Page 169 - Walshe JM. Penicillamine. A new oral therapy for Wilson's disease. Am J Med 21:
Page 168 - In: Brewer GJ, Prasad AS, eds. Zinc metabolism: Current aspects in health and disease. New York: Alan
Page 168 - Yuzbasiyan-Gurkan V, Johnson V, Brewer GJ. Diagnosis and characterization of presymptomatic patients with Wilson's disease and the use of molecular genetics to aid in 'the diagnosis. J Lab Clin Med

About the author (2001)

Brewer is a physician medical scientist and a Professor of Human Genetics and Internal Medicine at the University of Michigan Medical School.

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