Table 1.

Clinical finding in cases of WT1 variants associated with Denys–Drash syndrome (DDS) presenting as HUS.

	Present study	Patient 1	Patient 2	Patient 3	Patient 4
Study	–	Manivel et al. (13)	Sherbotie et al. (14)	Sherbotie et al. (14)	Alge et al. (15)
Age at onset	2 years	26 months	13 months	16 months	8 months
Karyotype	46, XY	46, XY	46, XY	46, XY	46, XX
Morphological sex	Female	–	Male	Male	Female
Initial manifestation	Rashes, abdominal pain, non-bloody loose stools, edema, anuria	HUS	UTI, edema	Edema, vomiting, decreased urine output	Oliguria, hypertension, vomiting
Genital abnormality	Female external genitalia	Ambiguous external genitalia, bilateral Mullerian and right Wolffian	Grade III hypospadias with undescended testes	Grade III hypospadias with bifid scrotum, undescended testes	Absence of ovary
Nephrotic syndrome	No	–	A month before HUS	At presentation with HUS	No
DDS diagnosed before HUS	No	No	No	No	No
C3 level	Normal	–	Normal	Normal	Decreased
Renal pathology	Gross specimens: DMS and glomerular dysplasia	Initial biopsy: MPGN Gross specimens: DMS and metanephric hamartoma	DMS without microangiopathic glomerulopathy	DMS without microangiopathic glomerulopathy	Initial biopsy: 3/8 glomeruli with globally sclerotic and the rest with active TMA Gross specimens: DMS
Wilm's tumor	No	No	No	No	No
Treatment	Plasma exchange	–	Plasmapheresis	–	Plasma infusions/exchange, eculizumab
Renal function	Irreversible	Irreversible	Irreversible	Irreversible	Irreversible
Outcome	Bilateral nephrectomy and renal transplantation at 3 years old, 10 months no recurrence	Bilateral nephrectomy, gonadectomy, and renal transplantation at 32 months old	PD; bilateral nephrectomy and renal transplantation at 2.5 years old, 4.5 years no recurrence	PD and HD; renal transplantation at 5 years old, 18 months no recurrence	PD; bilateral nephrectomy at 13 months old
Complement abnormality	Not found	–	–	–	Autoantibody (-) CFH H3 haplotype with three SNPsa
WT1 variation	Heterozygous, p. Asp252Asn in exon 9	–	Heterozygous, IVS9+111 C>T	Heterozygous, p. Arg394Trp in exon 9	Heterozygous, p. Arg394Trp in exon 9
Clinvar interpretation	Pathogenic	–	Variant not in clinvar	Pathogenic	Pathogenic

HUS, hemolytic uremic syndrome; DMS, diffuse mesangial sclerosis; UTI, urinary tract infection; SNPs, single-nucleotide polymorphisms; MPGN, membranoproliferative glomerulonephritis; PD, peritoneal dialysis; HD, hemodialysis.

^ac.1-332 C>T in the promoter, silent mutation at p. Gln672, and p. Glu936Asp substitution.