Table 2.

Mutation analysis of NPHS2 and WT1 in 18 African American patients with steroid-resistant nephrotic syndrome from 18 different families

Family	Gender	Mutation in NPHS2	Mutation in WT1	Age of onset (years)	Initial presentation	Response to 2nd line immunosuppression	ESRD (years after onset)	Renal biopsy	Transplantation
A215	M	no	no	13.0	edema	–	4.2	FSGS	no
A589a	M	no	no	4.0	edema	–	8.1	FSGS	no
A660	F	no	no	2.8	edema, HTN	–	no	FSGS	no
A968	M	no	no	9.8	incidental	CSA–nd	no	FSGS	no
A1118	F	no	no	4.9	edema	CP–nr	no	MCD (×2)	no
A1194	M	no	no	5.7	incidental	CSA–nr	5.5	FSGS (×2)	no
A1458	M	no	no	4.1	edema	Chl–nr	no	MCD	no
A1478	F	no	no	14.5	edema, RF	CSA–pr	no	FSGS	no
A1483	F	no	no	14.1	edema	CSA–nr	no	FSGS	no
A1500	F	no	no	1.9	edema, HTN	CP, CSA–nr	no	MCD (×2)	no
A1537b	M	no	no	0.0	edema	–	5.8	MCD	yes–no recurrence
A1606	F	no	no	12.8	edema, HTN	–	13.4	FSGS (×2)	yes–with recurrence
A1619	M	no	no	11.8	incidental	–	no	FSGS	no
A1647	M	no	no	10.4	edema	Tac–pr (2.5 years)	14.9	MCD–1st FSGS–2nd	yes–with recurrence
A1649	M	no	no	3.9	edema	Tac–cr (for 4 years) then nr	10.2	MCD–1st FSGS–2nd	no
A1657	F	no	no	8.1	edema	–	no	FSGS	no
A1949	F	no	no	6.4	incidental	CSA–nr	no	FSGS	no
A1964	M	no	no	8.2	edema	CSA–pr	no	MCD (×2)	no

M male, F female, Chl chlorambucil, CP cyclophosphamide, cr complete remission, CSA cyclosporine A, ESRD end-stage renal disease, FSGS focal segmental glomerulosclerosis, HTN hypertension, MCD minimal-change disease, nd no data, nr no response, pr partial response, RF renal failure, Tac tacrolimus, x2 same diagnosis in two biopsies

^aConsanguineous family,

^bfound to have a single heterozygous mutation in NPHS1