Wilson's disease in one identical twin and treatment by triethylene tetramine 2HCl in another case.
نویسنده
چکیده
WILSON'S disease is a rare genetic condition associated with excess copper deposition in the tissues, principally liver and brain. It first became established as a clinical entity in 1912, following Kinnear Wilson's publication of thirteen cases.' The incidence has been estimated to be about one case per million of the population2 although Walshe3 considers it is likely to be more common than this. Since it is a condition which can be effectively treated, early diagnosis is essential.3 4 In the space of six months, two cases with contrasting features have presented to the Department of Neurology.
منابع مشابه
Hypoparathyroidism as a rare manifestation of Wilson,s disease: a case report
A 13 years old girl was admitted to the pediatric ward of hospital No 1 of Kerman university of medical sciences because of crampy pains, pins and needles sensation of the extremities and history of an episode of seizure. Her problem started one week prior to admission with pain in the leg muscles, flexion of the fingers followed by seizure. On physical examination, the prominent finding inclu...
متن کاملValidated, stability-indicated quantitative purity test for triethylenetetramine tetrachlorhydrate by automated multiple development.
There is a monography of Triethylenetetramine dichlorhydrate (Trientine) in the United States Pharmacopeia. But neither the base nor the salts di- or tetra-chlorhydrate are in the European Pharmacopeia. Triethylène tetramine tetrachlorhydrate, used by AGEPS now as matural, is more soluble then triethylene tetramine dichlorhydrate. It is administred to patients with Wilson's disease, which resul...
متن کاملIdiopathic Subglottic Tracheal Stenosis in Identical Twin Sisters
Introduction: Idiopathic subglottic tracheal stenosis is a rare inflammatory disease of the trachea; most commonly affects females within the age range of 20-50 years. No etiologic factor has yet been identified for this rare tracheal disease and therefore it should be diagnosed after the exclusion of other inflammatory, traumatic, and autoimmune diseases of the trachea. The familial or g...
متن کاملCollege-age twins: university admission policies / twin research: birth weight and neuromotor performance; transfusion syndrome markers; vanishing twins and fetal sex determination; mz twin discordance for wilson's disease / media: big at birth; planned separation of conjoined twins; x factor twins; Cinema: the identical.
There is a lack of research findings addressing the unique college admissions issues faced by twins and other multiples. The advantages and disadvantage twins face, as reported by college administrators, twins and families are reviewed. Next, recent research addressing twins' birth weight and neuromotor performance, transfusion syndrome markers, the vanishing twin syndrome and monozygotic (MZ) ...
متن کاملChanges in compensation for occupationally induced bladder cancer.
faulty copper genes (almost always the result of consanguineous marriage) causes Wilson's disease. Heterozygotes are clinically well but may show some of the biochemical abnormalities. Excess copper damages first the liver and then as copper is released from the dying hepatocytes it affects the brain, eyes, kidneys, bones and joints, and possibly the parathyroid glands.8 The definitive biochemi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The Ulster Medical Journal
دوره 52 شماره
صفحات -
تاریخ انتشار 1983