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Xiao-Hui Zhuang, Ying Mo, Xiao-Yun Jiang, Shu-Mei Chen
Guangzhou, China
Author Affiliations: Department of Pediatrics, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China (Zhuang XH, Mo Y, Jiang XY, Chen SM)
Corresponding Author: Ying Mo, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China (Tel: 86-20-87332200 ext 8310; Email: moying80@yahoo.com.cn)
Background: Since the diverse manifestations of renal impairment appear in different periods of Wilson's disease, misdiagnosis or missed diagnosis is not rare. This study was undertaken to find the clinical features of renal impairment in children with Wilson's disease or hepatolenticular degeneration (HLD).
Methods: Eighty-five children with HLD who had been treated at our department between January 1991 and June 2006 were retrospectively studied. The clinical data of 25 patients with renal impairment were analyzed.
Results: In the 85 HLD patients, 34 had renal impairment. Nine of the 34 patients with D-penicillamine treatment were excluded. In the remaining 25 patients, 7 had initiated symptoms of renal impairment, 5 of them with edema, 1 with gross hematuria, and 1 with acute hemolysis and acute renal failure. Twelve of the 25 patients had proteinuria, 14 had hematuria, and 5 had both proteinuria and hematuria. Urine glucose was positive in 4 patients, urine N-acetyl-¦Â-D-glucosaminidase (NAG) increased in 5, and urine ¦Â2-microglobulin increased in 6. Urine red blood cell (RBC) phase was detected in 7 patients, including glomerular hematuria in 5 patients and non-glomerular hematuria in 2. Blood urea nitrogen and creatinine increased in 1 patient. B-ultrasound revealed bilaterally enlarged kidneys in 3 patients. Kidney biopsy showed diffuse mesangial proliferation and IgA deposit in mesangial region in 1 patient. All of the 25 patients had cornea K-F ring and the level of ceruloplasmin decreased. Six patients had a family history of HLD.
Conclusions: The manifestations of renal impairment with HLD are varied. HLD should be excluded from patients with unexplained renal impairment, while those with HLD should take examinations of the kidney to identify renal impairment. We propose that renal function and urinalysis should be checked regularly in patients receiving treatment of D-penicillamine.
Key words: hepatolenticular degeneration; renal impairment; Wilson's disease
World J Pediatr 2008;4(2):102-105
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