Pediatric Wilson disease presenting as acute liver failure: Prognostic indices

doi:10.12998/wjcc.v9.i14.3273

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World Journal of Clinical Cases

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World J Clin Cases. May 16, 2021; 9(14): 3273-3286
Published online May 16, 2021. doi: 10.12998/wjcc.v9.i14.3273

Table 1 Results of ATP7B sequencing in patients with Wilson disease with acute liver failure

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

¹c.2333G>T, p.Arg778Leu is a confirmed disease-causing variant. c.2310C>G, p.Leu770Leu is a single nucleotide polymorphism variant linked to c.2333G>T, p.Arg778Leu. c.2621C>T, p.Ala874Val and c.4072delG, p.Ala1358Profs*35, both of which are confirmed disease-causing variants, are also linked.

²Parental origins confirmed. Variants in left panel, paternal; in right panel, maternal. Patients 4, 7, 8, 25, and 38 were homozygotes. Patient 34 harbored three different variants, without parental origin confirmation. Patient 10, 19, 33, 36 and 37 were not assessed by ATP7B sequencing.

³Novel.

⁴de novo. ATP7B variants were categorized as either severe, including frameshift, nonsense, and classical splice-site variants, or non-severe (all others).

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