A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review

Figures & data

Figure 1. Pedigree of the ADTKD-UMOD family.

Table 1. Summary of UMOD mutations and clinical features in Chinese affected families.

Author/Year	n/N	Exon	Domain	Mutations	Age of onset^a	Initial manifestation of index patients	Age at ERSD or death^a
Wei/2012 [19]	7/13	9	GPI	c.1815A/G, p.Thr605Gly	12–45	HUA, HTN, CKD	46–51
Liu/2013 [21]	3/3^b	3	EGF3	c.326T/A, p.Val109Glu	18	HUA, HTN, CKD	21
	3/6	3	D8C	c.707C/A; p.Pro236Gln	24–35	HUA	35–41
	3/4	3	D8C	c.744C/G, p.Cys248Trp	11–18	HUA, CKD, HTN	21–41
Huang/2015 [27]	2/12	4	D8C	c.854C/A, p.Ala285Glu	27	Gout, HUA	40–47
Xia/2015 [28]	1/4	3	EGF1	c.197T/C, p.Leu66Pro	NA	NA	NA
	1/8	3	D8C	c.272delC	NA	NA	NA
	1/NA	3	D8C	c.744C/G, p.Csy248Trp	NA	NA	NA
	1/NA	3	D8C	c.707C/G, p.Pro236Gln	NA	NA	NA
	1/2	5	ZP	c.1153C/T, p.Arg385Trp	NA	NA	NA
This study	4/9	3	D8C	c.667T/G, p.Cys223Gly	12–32	HUA, Gout, HTN	36–61

CKD: chronic kidney disease; D8C: domain of eight cysteines; ZP: D8C: domain of eight cysteines; EGF: epidermal growth factor like domain; ESRD: end-stage renal disease; GPI: glycosylphosphatidylinositol segment; HTN: hypertension; HUA: hyperuricemia; n/N: affected family members/number of screened patients/; NA: not available.

^a Data from part of patients with available information.

^b Two mutation carriers remained asymptomatic.

Figure 2. Mutation in UMOD gene. (a) Sequence of an affected individual; the site of the missense mutation p.Cys223Gly (c.667T✓G) is shown with an arrow. (b) Sequence of an unaffected individual. (c) Sequence of a healthy normal control.

Table 2. The age of onset of hyperuricemia and ESRD in different affected UMOD domain.

UMOD domains	Median age at HUA	Median age at ESRD
D8C	20.5 (12.5,30.5), n = 12	40.5 (38.3, 44.3)^a, n = 14
GPI	26 (16, 32), n = 7	48.0 (47.0, 50.5), n = 5
EGF3	18, 20^b, n = 2	21^b
ZP	24, n = 1	–

^a p = .006 compared whit mutations in GPI

^b Only two case of mutation in EGF3 domain in the present study, only 1 of them advanced to ESRD.

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