Analysis of clinical features of late-onset Wilson disease
AIM To summarize and analyze of late-onset Wilson disease(LOWD)clinical features.METHODS Sixty-seven LOWD cases admitted for the first time from January 2018 to August 2022 in our hospital were selected,and 67 patients of non-late-onset WD(nLOWD)admitted within the same period were selected as controls.Clinical presentation,copper metabolism characteristics,Kayser-Fleischer ring(KFR),abdominal ultrasound,cranial MRI,genotype,unified Wilson disease rating scale(UWDRS)score,incidence of torsion spasms,Child-Turcotte-Pugh(CTP)grade,and prognosis were compared,and the clinical features of LOWD were initially explored.RESULTS The proportion of patients with LOWD was about 5.1％of the total WD patients admitted.Compared with the nLOWD group,the LOWD group had lower proportion of neurologic type(P=0.000),higher level of serum ceruloplasmin(CP,P=0.000)and serum copper oxidase(SCO),higher KFR positivity rate in latent/hepatic patients and higher proportion of cirrhosis(all P＜0.05).In terms of cranial MRI abnormal presentation,patients in the LOWD group showed more abnormalities in the sub frontal and parietal cortex,semi-oval centre,radial crown,and periventricular area(P=0.001)and less symmetry in the basal ganglia region,and brainstem(P=0.000).In the sequencing results of ATP7B gene,the mutation site c.3316 G＞A was more common(P=0.044),while the mutation site c.2333 G＞T was less rare(P＜0.05).Finally,there were differences in the proportion of A,B,and C grades in CTP grading(P=0.033).The proportion of cirrhosis of UWDRS was significantly higher in the LOWD group than in the nLOWD group.CONCLUSION Compared with nLOWD patients,LOWD patients have milder movement disorders and more serious liver damage,with higher serum CP and SCO levels.The typical basal ganglia nucleus involvement on cranial MRI is relatively rare,ischemic foci-like changes in the cerebral white matter are more common.
NETL
NSTL
万方数据
