Zinc monotherapy is effective in Wilson’s disease patients with mild liver disease diagnosed in childhood: a retrospective study

Ranucci, Giusy; Di Dato, Fabiola; Spagnuolo, Maria Immacolata; Vajro, Pietro; Iorio, Raffaele

doi:10.1186/1750-1172-9-41

Orphanet Journal of Rare Diseases

Table 1 Baseline characteristics of 42 patients with WD

From: Zinc monotherapy is effective in Wilson’s disease patients with mild liver disease diagnosed in childhood: a retrospective study

Patient	Sex	Age at diagnosis (months)	Diagnosis by familial screening	Presentation	ATP7B genotype	AST (UI/L)	ALT (UI/L)	GGT (UI/L)	Ceruloplasmin (mg/dl)	Basal urinary copper (mcg/24 h)	Hepatic copper (mcg/g dry weight)	Liver biopsy
1	F	48	Yes	Hepatic	No mutation found	168	210	21	8	4	1060	F (IS:1)
2	M	96	No	Hepatic	No mutation found	30	63	11	5	14	250	F (IS:1)
3	M	108	No	Hepatic	p.H1069Q/p.H1069Q	78	202	78	23	198	750	S, F (IS:1)
4	F	78	No	Hepatic	p.H1069Q/unknown	72	196	38	15	180	514	S, F (IS:1)
5	M	101	No	Hepatic	p.H1069Q/p.H1069Q	112	252	70	19	120	ND	ND
6	M	60	No	Hepatic	p.T858A/c.51 + 4A > T	179	514	99	3	139	532	S, F (IS: 2)
7	F	16	Yes	Hepatic	p.P840L/p.N1270S	53	28	20	3	15	ND	ND
8	M	87	No	Hepatic	p.P840L/p.N1270S	96	288	77	2	135	919	S, F (IS:2), ACH
9	F	13	Yes	Hepatic	c.2299insG/c.2299insG	42	27	16	7	ND	ND	ND
10	M	19	Yes	Hepatic	c.2299insG/c.2299insG	67	35	15	6	15	ND	ND
11	M	170	No	Hepatic	c.51 + 384_1708-953del/ c.51 + 384_1708-953del	199	582	267	2	254	ND	S, F (IS:1)
12	M	125	No	Mixed	p.H1069Q/p.H1207P	35	106	62	18	300	300	F (IS: 2)
13	M	74	No	Hepatic	p.R1319X/p.R1319X	161	362	101	2	116	260	S, F (IS:2)
14	F	80	No	Hepatic	p.P840L/p.N1270S	153	370	80	2	117	ND	F (IS: 2)
15	M	52	No	Hepatic	p.R1319X/unknown	137	307	55	2	40	1203	S, F (IS:1)
16	M	12	Yes	Hepatic	c.2447 + 5A > G/c.2447 + 5A > G	55	57	20	11	ND	ND	ND
17	M	73	No	Hepatic	c.2447 + 5A > G/c.2447 + 5A > G	114	148	51	8	262	1056	S, F (IS: 2)
18	M	58	No	Hepatic	c.2447 + 5A > G/c.2447 + 5A > G	150	424	47	6	241	1048	S (IS:1)
19	M	72	No	Hepatic	p.H1069Q/p.T1220M	117	412	70	12	228	ND	S, F (IS:2)
20	M	36	Yes	Hepatic	p.H1069Q/p.T1220M	22	12	13	16	31	ND	ND
21	M	64	No	Hepatic	p.D765N/unknown	99	201	105	6	137	407	ND
22	M	65	No	Hepatic	p.H1069Q/p.H1069Q	130	395	187	16	270	1129	S, F (IS: 1)
23	F	79	No	Mixed	p.T1220M/c.51 + 4A > T	64	208	61	2	119	1041	S, F (IS: 1)
24	F	29	Yes	Hepatic	p.T1220M/c.51 + 4A > T	54	50	21	2	22	1002	S, F (IS: 1)
25	F	92	No	Hepatic	p.H1069Q/p.R1041P	52	110	36	18	108	714	S, F (IS: 1)
26	M	130	No	Hepatic	p.T1220M/unknown	100	148	100	3	84	1060	S, ACH
27	M	152	No	Hepatic	p.T1220M/unknown	33	52	73	2	413	60	S, ACH
28	F	70	No	Hepatic	ND	205	398	83	7	172	676	S, F (IS:1)
29	M	100	No	Hepatic	p.S1369L/p.S1369L	102	173	60	2	236	ND	S, F (IS:2)
30	M	76	No	Hepatic	p.G591D/p.R969Q	146	502	119	7	780	761	S
31	M	69	No	Hepatic	c.2304-2305 insC/c.2304-2305 insC	117	276	103	2	595	977	S
32	M	42	No	Hepatic	p.V1262F/p.V1297N	117	262	41	2	14	ND	ND
33	M	73	No	Hepatic	p.H1069Q/p.G711E	169	480	227	18	150	620	S, F (IS: 1)
34	M	192	No	Mixed	p.H1069Q/p.N1270S	27	23	32	6	165	970	S, F (IS: 2)
35	M	75	No	Hepatic	c.1782delT/c.3182G > A	185	398	70	4	180	296	S, F (IS: 2)
36	M	29	Yes	Hepatic	c.1782delT/c.3182G > A	69	64	16	2	16	1230	S
37	F	63	No	Hepatic	p.A1003T/p.A1003T	80	147	45	38	66	785	S, ACH
38	M	99	No	Hepatic	ND	79	181	89	4	91	780	S, F (IS 1)
39	F	72	No	Hepatic	p.I899F/p.N1270S	66	215	67	8	157	1449	S, F (IS: 1)
40	M	56	No	Hepatic	c.2304dupC/unknown	188	483	102	2	138	1660	S, F (IS: 2)
41	M	39	Yes	Hepatic	c.2304dupC/unknown	51	37	11	3	25	904	S, F (IS:1)
42	F	84	No	Mixed	ND	156	187	191	3	145	600	S, F (IS: 1)

Abbreviations: IS: Ishak Fibrosis Score; ACH, active chronic hepatitis; F, fibrosis; ND, not done; S, steatosis.

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com