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

Table 3 Summary of WT1-related glomerulopathy presenting an atypical hemolytic uremic syndrome or thrombotic microangiopathy phenotype

Literature	Clinical diagnosis	Phenotype /Karyotype	WT1 mutation	NS onset (m)	ESRD (age)	Renal histology			Tumor features
Literature	Clinical diagnosis	Phenotype /Karyotype	WT1 mutation	NS onset (m)	ESRD (age)	Initial diagnosis (age)	Follow-up	Other features	Tumor features
Alge JL (2017) [18]	DDS	Female, 46XX	p.Arg467Trp	8	NA	aHUS		CFH H3 allele
Sherbotie JR (2000) [19]	DDS	Male, 46XY	p.Thr475fs	13	2.5 yr	aHUS	no recurrence after Tx		Intralobar nephrogenic rest
	DDS	Male, 46XY	p.Arg467Trp	16	5 yr	aHUS	no recurrence after Tx	HT
Manivel JC (1987) [20]	DDS	Male, 46XY	ND	26	32 m	MPGN + chronic HUS		GB, HT	Nephrectomy and gonadectomy at age 32 m

WT1 Wilms tumor suppressor gene, NS nephrotic syndrome, ESRD end-stage renal disease, DDS Denys-Drash syndrome, NA not applicable, aHUS atypical hemolytic uremic syndrome, CFH complement factor H, Tx treatment, HT hypertension, ND not determined, MPGN membranoproliferative glomerulonephritis, HUS hemolytic uremic syndrome, GB gonadoblastoma.
The WT1 variants are shown based on the reference sequence of the longest isoform D transcript of WT1 (NM_024426.6) and the recommendation of variant nomenclature from the Human Genome Variation Society. The p.Arg467Trp variant was originally reported p.Arg394Trp and other alternate variant designations (e.q., c.1384C>T, 1180C>T, p.Arg462Trp). The p.Thr475fs was originally reported as p.Thr402fs

ISSN: 1471-2369