scholarly journals INITIAL ASSESSMENT FINDINGS IN PATIENTS WITH CONFIRMED WILSON’S DISEASE

2021 ◽  
Vol 5 (2) ◽  
pp. 161-167
Author(s):  
O. A. Zhigaltsova-Kuchinskaya ◽  
◽  
N. N. Silivontchik ◽  
S. A. Likhachev ◽  
I. V. Pleshko ◽  
...  

Bacground. The optimization of Wilson’s disease (WD) diagnosis is one of the most disputable problem. Objective. The retrospective study of initial assessment findings under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Material and methods. The results of laboratory tests and Kaiser-Fleischer rings (KF rings) identification under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Results. At stage I, 17 patients (16.7%; 95% CI 10.7–25.1) were defined as having clinically definitive WD based on the combination of low serum ceruloplasmin and KF rings, 4 patients (3.9%; 95% CI 1.5–9.7) – based on the drop of ceruloplasmin level. After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of WD reached 24,5% (95% CI 17.2 33.7). After stage III (genotyping for carriage of ATP7B gene mutations) – 56.9% (95% CI 47.2–66.0). Serum free copper increase was found in 54.9% (95% CI 41.4 67.7) of cases. Conclusions. Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9% (95% CI 56.9; 47.2–66.1). Frequent detection of serum free copper increase (54.9%, 95% CI 41.4 67.7) allows to use this test due to its greater availability as compared with 24-hour urinary copper excretion evaluation in WD diagnostics.

2008 ◽  
Vol 43 (5) ◽  
pp. 597-603 ◽  
Author(s):  
José Ramón Foruny ◽  
Daniel Boixeda ◽  
Antonio López-Sanroman ◽  
Enrique Vázquez-Sequeiros ◽  
Mónica Villafruela ◽  
...  

2021 ◽  
Vol 3 (Number 1) ◽  
pp. 20-23
Author(s):  
Sadika Kadir ◽  
S M Bazlul Karim ◽  
Mohammed Ashraful Haque ◽  
Rafiqul Islam ◽  
Asif Imran ◽  
...  

The Kayser-Fleischer(K-F) ring is the hallmark of Wilson’s disease (WD). In most adults or older children, the diagnosis of Wilson’s disease may be made easily when K-Frings and low ceruloplasmin levels are present. In this study presence of K-F ring has been evaluated among children with liver disease in Bangladesh to improve the management of Chronic liver disease due to WD and reduce complications. This cross-sectional study was carried out at the Department of Paediatric Gastroenterology and Nutrition, BSMMU, Dhaka on 60 children presented with liver disease. Thirty children over three years of age considered as cases (Group-I) and thirty children with non- Wilsonian liver disease as control (Group-II). Slit lamp examination for K-F ring and twenty-four hour urinary copper excretion after giving one gram d-penicillamine 12-hour apart were done in each patient. The efficacy of K-F ring was studied. Mean age of WD patients was 8.9± 2.78 years, with a male female ratio of 1.3: 1. There was significant low level of serum ceruloplasmin in 93.33% of cases (p<.001). After penicillamine challenge, 24-hour urinary copper excretion was found significantly higher in patients with WD (median 3626.5±1698 μg/24h, range 1262- 195000) than non-Wilsonian liver disease (median 450±278.09 μg/24-h, range 47- 2062 μg/24h), (p<.001). K-F ring was found in 15 (50%) patients, absent in all patients of non-Wilsonian liver disease group and the difference was statistically significant (p<.001). Evaluation of Kayser-Fleischer ring is still a very essential diagnostic tool and is a non-invasive, affordable way to assist in the diagnosis of a potentially fatal disease.


2002 ◽  
Vol 122 (8) ◽  
pp. 585-588
Author(s):  
Noriyasu FUKUOKA ◽  
Shushi MORITA ◽  
Shizuka HAMATANI ◽  
Hitoshi OKADA ◽  
Mayumi KONDOH ◽  
...  

2012 ◽  
Vol 44 (4) ◽  
pp. 323-327 ◽  
Author(s):  
Jakeliny Vieira ◽  
Pedro Vitoriano Oliveira ◽  
Yara Juliano ◽  
Karim Repsold Jorge Warde ◽  
Marta Mitiko Deguti ◽  
...  

Hepatology ◽  
1992 ◽  
Vol 15 (4) ◽  
pp. 609-615 ◽  
Author(s):  
Claudia Martins Da Costa ◽  
Dianne Baldwin ◽  
Bernard Portmann ◽  
Yvette Lolin ◽  
Alex P. Mowat ◽  
...  

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