Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature

Matsuoka, Daisuke; Noda, Shunsuke; Kamiya, Motoko; Hidaka, Yoshihiko; Shimojo, Hisashi; Yamada, Yasushi; Miyamoto, Tsutomu; Nozu, Kandai; Iijima, Kazumoto; Tsukaguchi, Hiroyasu

doi:10.1186/s12882-020-02007-0

Table 1 Summary of WT1-related glomerulopathy with MPGN pattern

From: Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature

Reported cases Literature	Clinical diagnosis	Phenotype /Karyotype	WT1 mutation	NS onset (yr)	ESRD (yr)	Renal Histology				Tumor onset	Surgical resection
Reported cases Literature	Clinical diagnosis	Phenotype /Karyotype	WT1 mutation	NS onset (yr)	ESRD (yr)	Initial diagnosis (age)	IF	Follow-up (age)	Other features	Tumor onset	Surgical resection
WT1 missense variant
Neuhaus TJ (2011) [4]	DDS	Male, 46XY	p.Arg467Trp	4	5	MPGN+DMS (4 yr)	Full-house	DMS (9,12 yr)	Posttransplant recurrence at age 9	WT (1.8 yr)	1.8 yr (L), 5 yr (R)
Karmila AB (2019) [5]	DDS	Male, 46XY	p.Arg467Trp	4	4	MPGN+DMS (4 yr)	IgG, C3		Graft loss at age 12	ND	NA
			p.Arg467Trp	2.5	3	MPGN+FSGS (4 yr)	IgG, C3		No posttransplant recurrence	ND	NA
Schmacher VA (2007) [6]	DDS		p.Arg467Trp	ND		MPGN+DMS	ND		Fibrillar deposits in GBM	ND	1.7 yr
WT1 nonsense variant
Bockenhauer D (2009) [7]	DDS	Female, 46XX	p.Arg463Ter	4	9	MPGN (4 yr)	Full-house		No posttransplant recurrence	WT (1 yr)	1 yr (R), 9 yr (L)
Chernin G (2010) [3]		Female, 46XX	p.Arg463Ter	3.9		MPGN	ND			WT (1 yr)	ND
WT1 splice variant
Ito S (2003) [8]	FS	Female, 46XY^a	c.1447+4C>T	10		MPGN (13 yr)	Trace		Thin GBM, interstitial foam cells	SG	ND
		Female, 46XY^a	c.1447+4C>T	10	20	MPGN (10 yr)	C3, IgA		Thin GBM, interstitial foam cells	SG	ND
		Female, 46XY	c.1447+2T>C	10	23	MPGN (11 yr)	IgM, IgG, IgA	FSGS (14 yr)	Thin GBM, interstitial foam cells	GB	19 yr
Aucella F (2006) [9]	FS	Female, 46XY	c.1447+5G>A	5	14	MPGN (6 yr)	IgG, C3	Diffuse GS (10 yr)	Interstitial foam cells	SG	ND
	FS	Female, 46XX	c.1447+5G>A	6	10	MPGN (8 yr)	Absent		Interstitial foam cells	ND	ND
Klamt B (1998) [10]	FS	Female, 46XY	c.1447+5G>A	17	19	FSGS (10 yr)				ND	ND
		Female, 46XX	c.1447+5G>A	9	11	MPGN	IgG, C3			ND	ND
Frasier SD (1970) [11]	FS	Female, 46XY^a	c.1447+5G>A	3.5	7.5	MPGN			Interstitial foam cells	GB, Te	ND
	FS	Female, 46XY^a	c.1447+5G>A	3.5		MPGN			Interstitial foam cells	GB	6 yr
Present case	FS	Female, 46XY	c.1447+4C>T	5	NA	MPGN (5 yr)	Full-house	FSGS (8 yr)		GB	11 yr

WT1 Wilms tumor suppressor gene, MPGN membranoproliferative glomerulonephritis, NS nephrotic syndrome, ESRD end-stage renal disease, DDS Denys-Drash syndrome, DMS diffuse mesangial sclerosis, WT Wilms tumor, L left, R right, ND not determined, NA not applicable, FSGS focal segmental glomerulosclerosis, GBM glomerular basement membrane, FS Frasier syndrome, SG Streak gonads, GB gonadoblastoma, Te teratoma
^aMonozygous twin
The WT1 variants are shown based on the reference sequence of the longest isoform D trasncript of WT1 (NM_024426.6) and the recommendation of variant nomenclature from the Human Genome Variation Society. The p.Arg467Trp(c.1399C>T) and p.Arg463Ter(c.1387C>T) variants were originally reported as p.Arg394Trp and p.Arg390X, respectively. The sequence variant nomenclatures of splice variants of c.1447+4C>T, c.1447+2T>C, and c.1447+5G>A are used for those originally reported as IVS9+4C>T, IVS9+2T>C, and IVS9+5G>A, respectively

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ISSN: 1471-2369

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