Abstract
Background: Wilson disease (WD) is an autosomal recessive progressive degeneration of hepatolenticular tissue that causes the increase of copper deposition in the liver and other organs, with resultant hepatic, neurologic and psychological manifestations. WD is fatal if left untreated. The aim of the current study was to evaluate the clinical and Para-clinical findings in children with WD in Shiraz, Southern Iran.
 Patients and Methods: The Medical records of all children less than 18 years of age with definite diagnosis of WD, who were admitted in Nemazee Teaching Hospital from 2001 to 2009, or were under follow up at the Pediatric Hepatology Clinic affiliated to Shiraz University of Medical Sciences, were reviewed.
 Results: Overall, 70 patients with WD (41 males, 29 females) were studied. The mean age at the onset of diagnosis was 10.3±3.2 years and the most common first presentation in our patients was hepatic (90%). The most common biochemical abnormalities were increased urinary copper content, increased liver enzymes (92.9%), and increased prothrombin time (71.4%). Wilson index was ≥11 in 44.3% of the patients.
 Conclusion: WD is a rare and fascinating disorder that often poses a diagnostic and therapeutic challenge for the physician. Maintaining a high index of suspicion is critical in diagnosing this readily treatable disease and early treatment can decrease its mortality rate.
Highlights
Wilson disease (WD) or hepatolenticular degeneration is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport [1]
70 children with WD aged less than 18 years old, who were admitted in Nemazee Teaching Hospital during 20012009 or were under follow up at Pediatric Hepatology Clinic affiliated to the Shiraz University of Medical Sciences in Shiraz, Southern Iran, were studied
All patients with neurological manifestations had KF ring in their ophthalmologic examination.Hemolytic anemia was observed in 3 patients (4.3%) with WD and
Summary
Wilson disease (WD) or hepatolenticular degeneration is due to a genetic abnormality inherited in an autosomal recessive manner that leads to impairment of cellular copper transport [1]. The gene ATP7B is responsible for WD and is located on chromosome 13 This gene is highly expressed in the liver, placenta, and kidney and encodes a transmembrane copper-dependent P-type ATPase with synthetic and excretory tasks. Patients may Wilson Disease in Children present with a wide variety of symptoms and there is no “typical” clinical manifestation for WD [5,6,7]. There are serious risks associated with immunosuppressive therapy and used surgery procedure [14].The aim of this study was to evaluate the clinical and para-clinical features of WD in children younger than 18 years old in Shiraz, Southern Iran, which could be helpful for general and specialist physicians in the diagnosis of this challenging disease. Wilson disease (WD) is an autosomal recessive progressive degeneration of hepatolenticular tissue that causes the increase of copper deposition in the liver and other organs, with resultant hepatic, neurologic and psychological manifestations. Maintaining a high index of suspicion is critical in diagnosing this readily treatable disease and early treatment can decrease its mortality rate.[GMJ.2014;3(3):160-66]
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