Immunoglobulin a nephropathy as the first clinical presentation of Wilson disease: a case report and literature review

Abstract

Background: Wilson disease (WD) is a rare genetic disorder of copper metabolism. Differences in copper tissue accumulation lead to various clinical manifestations, including some atypical presentations. The complex clinical features of WD make diagnosis challenging, delaying the best chance for treatment.

Case presentation: We report a case of a 26-year-old man with nephritis-range proteinuria and elevated serum creatinine. The renal pathology indicated immunoglobulin A (IgA) nephropathy and tubular injury, which was inconsistent with glomerular lesions. Cirrhosis was also detected by imaging examination. Considering both kidney injury and liver damage, WD was suspected. Based on results showing abnormal copper metabolism, corneal Kayser-Fleischer rings, and genetic disorders in the ATP7B gene, the patient was finally diagnosed with WD. After treatment with oral penicillamine, zinc sulfate and losartan, the patient showed alleviation of both WD and nephropathy after 3 years of follow-up. He maintained a good quality of daily life.

Conclusion: This case highlights that unexplained neurological and liver symptoms in patients with IgA nephropathy can be clues for WD.

Keywords: Case report; Copper metabolism; IgA nephropathy; Proteinuria; Wilson disease.

Fig. 1

a Light microscopy of the kidneys showing mesangial cells and matrix proliferation in the glomeruli (H&E stain, 400 ×). b Light microscopy showing the disappearance of brush margins and the dilation of lumen in partial renal tubules. Renal interstitial edema and inflammatory cell infiltration were also observed (H&E, 400 ×). c Immunofluorescence staining of the kidneys showing bright granular deposition of IgA (400 ×). d Silver staining of the kidneys showing shedding of tubule bristles and enhanced interstitial edema (400 ×)

Fig. 2

a Light microscopy of the kidneys showing granular deposition in the cytoplasm of renal tubules epithelial cells (H&E stain, 400 ×). b Some renal tubular epithelial cells showed degeneration of mitochondria in the cytoplasm. The size of mitochondria varied, the inner and outer membranes were separated, and the cristae became shorter and disappeared, as observed by electron microscopy (7500 ×). c Electron microscopy of some round granule deposited in lysosomes (7500 ×). d Brown to black deposits in renal tubular epithelial cells, as demonstrated by Timm’s copper staining (400 ×)