Copyright
©The Author(s) 2021.
World J Clin Cases. May 16, 2021; 9(14): 3273-3286
Published online May 16, 2021. doi: 10.12998/wjcc.v9.i14.3273
Published online May 16, 2021. doi: 10.12998/wjcc.v9.i14.3273
Patient No. | ATP7B variants | Category of variants | Outcome | |
1 | c.314C>A, p.Ser105X2 | c.3700delG, p.Val1234Leufs*962 | Biallelic severe | Liver transplant |
2 | c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1 | c.3517G>A, p.Glu1173Lys | Non-severe | Liver transplant |
3 | c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1 | c.3089Gly>A, p.Gly1030Asp3 | Non-severe | Survival |
4 | c.2975C>T, p.Pro992Leu | c.2975C>T, p.Pro992Leu | Non-severe | Survival |
5 | c.994G>T, p.Glu332X | c.1529T>C, p.Leu510Pro3 | Monoallelic severe | Survival |
6 | c.2455C>T, p.Gln819X3 | c.1842_1845delins233 | Biallelic severe | Survival |
7 | c.2975C>T, p.Pro992Leu | c.2975C>T, p.Pro992Leu | Non-severe | Survival |
8 | c.994G>T, p.Glu332X | c.994G>T, p.Glu332X | Biallelic severe | Survival |
9 | c.2621C>T, p.Ala874Val/c.4072delG, p.Ala1358Profs*351,2 | c.2975C>T, p.Pro992Leu2 | Monoallelic severe | Death |
11 | c.2333G>T, p.Arg778Leu | c.3182G>A, p.Gly1061Glu | Non-severe | Survival |
12 | c.2333G>T, p.Arg778Leu | c.2621C>T, p.Ala874Val | Non-severe | Death |
13 | c.2975C>T, p.Por992Leu2 | c.3443T>C, p.Ile1148Thr2 | Non-severe | Survival |
14 | c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leua | c.1708-5T>G, | Monoallelic severe | Survival |
15 | c.3517G>A, p.Glu1173Lys | c.3884C>T, p.Ala1295Val | Non-severe | Liver transplant |
16 | c.2356-2A>G | c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1 | Monoallelic severe | Survival |
17 | c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1 | c.2975C>T, p.Pro992Leu | Non-severe | Survival |
18 | c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1 | c.3809A>G, p.Asn1207Ser | Non-severe | Survival |
21 | c.2932_2933insG, pVal978Glyfs*502,3 | c.2333G>T, p.Arg778Leu2 | Monoallelic severe | Survival |
22 | c.1708-1G>C | c.2333G>T,p.Arg778Leu | Monoallelic severe | Survival |
23 | c.1708-1G>C | c.2333G>T,p.Arg778Leu | Monoallelic severe | Survival |
24 | c.2528G>A, p.Gly843Glu3 | c.2975C>T,p.Pro992Leu | Non-severe | Survival |
25 | c.2975C>T, p.Pro992Leu | c.2975C>T, p.Pro992Leu | Non-severe | Survival |
26 | c.2543dupG, p.Asn849Glnfs*52,3 | c.2924C>A, p.Ser975Tyr2 | Monoallelic severe | Survival |
27 | c.2333G>T, p.Arg778Leu | c.2975C>T, p.Pro992Leu | Non-severe | Survival |
28 | c.2975C>T, p.Pro992Leu | c.2668G>A, p.Val890Met | Non-severe | Survival |
29 | c.2924C>A, p.Ser975Tyr | c.2128G>A, p.Gly710Ser | Non-severe | Survival |
30 | c.2620G>C, p.Ala847Pro2 | c.2621C>T, p.Ala874Val2 | Non-severe | Survival |
31 | c.2939G>A, p.Cys980Tyr | c.2333G>T, p.Arg778Leu | Non-severe | Survival |
32 | c.2719C>T, p.Gln907X4 | c.2924C>A, p.Ser957Tyr2 | Non-severe | Survival |
34 | c.1168A>G, p.Ile390Val | c.2975C>T, p.Pro992Leu, /c.1708-1G>C | Non-severe | Survival |
35 | c.2157>A, p.Tyr719X | c.3452G>A, p.Arg1151His | Non-severe | Survival |
38 | c.2333G>T, p.Arg778Leu | c.2333G>T, p.Arg778Leu | Non-severe | Survival |
39 | c.314C>A, p.Ser105X | c.2620G>C,p.Asn874Pro | Non-severe | Survival |
40 | c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1,2 | c.3809A>G,p.Asn1270Ser2 | Non-severe | Survival |
41 | c.3836A>G, p.Asp1279Gly2 | c.2333G>T, p.Arg778Leu2 | Non-severe | Survival |
- Citation: Fang WY, Abuduxikuer K, Shi P, Qiu YL, Zhao J, Li YC, Zhang XY, Wang NL, Xie XB, Lu Y, Knisely AS, Wang JS. Pediatric Wilson disease presenting as acute liver failure: Prognostic indices. World J Clin Cases 2021; 9(14): 3273-3286
- URL: https://www.wjgnet.com/2307-8960/full/v9/i14/3273.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v9.i14.3273