Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis

Abstract

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.2195T>C and c.3044T>C). 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.2195T>C and c.3044T>C is involved in pathogenesis of WD, and revealed that nocturnal enuresis may be a symptom of WD.

A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

“…Molecular genetic screening of the patient’s family members reveals carriers, or permits the early detection of other mutant individuals. In addition to the neurological examination, biochemical markers (low ceruloplasmin), Kayser–Fleischer rings, and genetic biomarker ( ATP7B ) are common approaches to WD diagnosis [ 7 , 8 , 9 ].…”