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

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.

Figure 1

Cranial magnetic resonance imaging image of the patient. Symmetrical patchy signals were observed in brainstem and bilateral basal ganglia in T1-weighted image (A, D), T2-weighted image (B, E), and Flair images (C, F). BS = Brainstem, BG = basal ganglia.

Figure 2

Identification of pathogenic variants within ATP7B gene in patient with nocturnal enuresis. (A) The 2 pathogenic variants c.2195T>C (a) and c.3044T>C (b) identified in the patient ATP7B gene. (B) Homology comparisons of the mutations in ATP7B protein among 15 species. The 2 variants located within highly conserved regions.