Diagnostic particularities in Wilson’s disease as related to age, sex and clinical presentatio
Journal Title: Human & Veterinary Medicine - International Journal of the Bioflux Society - Year 2011, Vol 3, Issue 2
Abstract
Objective: Wilson’s disease (WD) is a genetic, autosomal recessive disorder, which affects the liver, brain and cornea. The condition is rare and it has various presentations, hence its diagnosis is difficult. We aimed to study different clinical presentations, their relation with age and sex and the influence of several factors on the diagnostic score (Leipzig score). Material and Methods: We analyzed retrospectively the medical documents of 24 WD patients examined in 2[sup]nd[/sup] Pediatric Clinic and 5[sup]th [/sup]Medical Clinic of Cluj-Napoca, and we collected data concerning the diagnosis. The patients were classified phenotypically (Leipzig classification) and we calculated the Leipzig score. We studied the relation between diagnostic score, clinical phenotype, age at diagnosis and sex. Results: Our group consisted of 7 adults and 17 pediatric patients, F/M = 1/1.4. They were distributed, according to the phenotype, as follows: acute hepatic (H1) – 3 (pediatric, all deceased); chronic hepatic (H2) – 12 (2 adults, 10 pediatric); neurological and hepatic (N1) – 6 (3 adults, 3 pediatric), neurological (N2) – 3 (2 adults, 1 pediatric). The hepatic involvement was inversely correlated with age (p=0.02), which in turn was directly correlated with neurological manifestations (p=0.05). There were no significant differences concerning either distribution on phenotypes in relation with sex and age or between Leipzig score and age, sex, onset modality, presence and severity of hepatic involvement. Conclusion: The presence ofhepatic manifestations at the moment of diagnosis of WD decreases with age, while neurological one increases. The distribution on phenotypes was not influenced by age or sex. There is no relation between diagnostic score and studied demographical and clinical factors.
Authors and Affiliations
Valentin Militaru, Nicolae Miu, Tudor Pop, Lucia Burac, Ana Ştefănescu, Sorin Crişan, Ştefan Vesa, Liliana Rădulescu, Caius Duncea
Keywords
Related Articles
- EP ID EP134858
- DOI -
- Views 93
- Downloads 0
Pace and sotalol – three case reports of the benefits and potential hazards associated with sotalol administration in sinus node dysfunctio
The sinus node dysfunction is associated with conduction system disease and supraventricular tachyarrhythmias (atrial fibrillation and atrial flutter). The only effective treatment for patients with chronic symptoma...
A survey on ectoparasite fauna of cold water fish farms in Mazandaran Province, Iran
Rainbow trout is commercial species that breed all over the world, and Mazandaran Province is one of the important areas of this industry in Iran. The present study was carried out to survey on ectoparasite fauna of col...
Pathological changes and clinical use of the measurement of serum/plasma concentrations of insulin-like growth factor type 1 (IGF-1) in horses, dogs and cats.
The biological effects of the growth hormone are in part mediated by the release of insulin-like growth factor type 1 (IGF-1) by the liver but also from other non-hepatic tissues. As opposite as GH, IGF-1 is not release...
Prevalence of mastitis among dairy cattle in Kanam Local Government Area of Plateau state, Nigeria.
Mastitis is a major disease that infects the mammary gland of dairy cattle and adversely affects the quantity and quality of milk produced by cows. This study described the socio-economic characteristics of herdsmen and...
Hydrogen peroxide potentiates organophosphate toxicosis in chick
Objective: The purpose of the present study was to examine the effect of hydrogen peroxide (H[sub]2[/sub]O[sub]2[/sub]) on the acute toxicity of organophosphate insecticides dichlorvos and diazinon and their inhibitory a...