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Acute hemolytic anemia as an initial presentation of Wilson’s disease

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Pediatrics

Advisors

El-Razeqi, Muna E. , Hamdi, Muna M. , Aly, Amal A.

Authors

El-Shahawi, Amira Muhammad Ahmad

Accessioned

2017-07-12 06:40:28

Available

2017-07-12 06:40:28

type

M.Sc. Thesis

Abstract

Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism resulting in pathological accumulation of copper in many organs and tissues. Hemolytic anemia (HA) in WD occurs in up to 17% of patients at some point in time during the natural course of illness. The aim of current study was to screen for WD among children presenting HA. The study was carried out on cases with combs negative HA attending the pediatric hematology clinic of Cairo University. The twenty studied children were screened for WD by serum ceruloplasmin level, 24-hr urinary copper before and after D-penicillamine challenge test and slit lamp examination for detecting Kayser-Fleisher ring. Our results showed that according to the scoring system used, we found one case has definite WD and 7 cases that were likely to have WD. These 8 cases were referred to as +ve cases. Their mean age was 9.9 + 3.1 years. Comparison between the +ve and -ve cases for WD revealed that +ve cases have; a significantly lower weight percentile (p= 0.003), a significantly lower hemoglobin, MCV and MCH (p= 0.04, 0.001 and 0.04) respectively and a significantly higher urinary copper after penicillamine (p= 0.000) and finally a significantly lower retics (p= 0.04) than negative cases. Our results showed that 40% of cases presented by combs' negative HA were likely to have WD and that they all had elevated levels of urinary copper after penicillamine. We concluded that WD in not uncommon in children with hemolytic anemia after exclusion of common causes.

Issued

1 Jan 2012

DOI

http://dx.doi.org/10.21473/iknito-space/35469

Details

Type

Thesis

Created At

28 Jan 2023