Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report

摘要

Introduction: Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism, which exhibits various symptoms due to the combination of environmental and genetic factors. Here, we report a WD patient who displayed distinctive symptom of nocturnal enuresis . Patient concerns: The patient was a 31-year old woman, who recently developed nocturnal enuresis , combined with hand tremors, trouble speaking, and panic disorder at night. Diagnosis: The patient had been diagnosed with WD by Kayser-Fleischer rings, abnormal copper metabolism, neuropsychiatric symptoms, and magnetic resonance imaging when she was 17. The diagnosis was further confirmed by genetic analysis, which revealed a compound heterozygous mutations in ATP7B gene (c.2195TC and c.3044TC). The patient exhibited nocturnal enuresis , but the ambulatory electroencephalogram, routine urinalysis, residual urine detection, color doppler ultrasound of kidney, ureter, and bladder all displayed no abnormality. Interventions: The patient was treated with sodium dimercaptosulphonate, supplemented with Glutathione and Encephalin-inosine. Outcomes: The urinary copper excretion level decreased gradually, and the nocturnal enuresis was alleviated along with the neuropsychiatric symptoms by copper chelation therapy. Conclusion: In this study, we proved that variants c.2195TC and c.3044TC is involved in pathogenesis of WD, and revealed that nocturnal enuresis may be a symptom of WD.