Table 1 Experimental and clinical data... | American Society of Hematology

Table 1

Experimental and clinical data in HUS patients 1 through 4 and their parents

Patient/country	Age at debut/age at sampling, y	No. episodes	Sex	FH		FH level, %⁴⁰ (normal range, 69%-154%)	FH function*	C3 level, g/L (normal range, 0.77-1.38 g/L)	Clinical features at sampling
Patient/country	Age at debut/age at sampling, y	No. episodes	Sex	Heterozygous mutation†	Polymorphism†	FH level, %⁴⁰ (normal range, 69%-154%)	FH function*	C3 level, g/L (normal range, 0.77-1.38 g/L)	Clinical features at sampling
Patient 1/Sweden	30/32, 33, 34	4	F	V1168E, SCR20	E936D SCR16, N1050Y SCR18	155	↓	0.59	Reduced renal function, plasma exchange every 7-14 d
Mother				V1168E	N1050Y	152	↓/N‡	1.81	Unaffected
Father					E936D	100	N	1.23	Lymphosarcoma
Patient 2/USA§	3/5, 8	1	F	E1198K, SCR20	—	105	↓	1.16	Renal failure hemodialysis
Mother				—	—	146	N	1.84	Unaffected
Father				—	—	97	N	1.18	Unaffected
Patient 3/Sweden	20/23, 25, 26	4 (at least)	F	C870R, SCR15	672Q SCR11 (G homozygote), 936D	58	↓	0.50	Renal failure, hemodialysis, and after transplantation
Mother				—	E936D	95	N	1.13	Unaffected
Father				C870R	E936D	50	N	0.71	Unaffected
Patient 4/Germany‖	< 1/2, 3	2	M	E1198 stop	C-257T, (C9669T) promoter	132	↓	0.84¶	Renal failure, peritoneal dialysis
Mother				E1198 stop	C-257T	102	N	0.68¶	Unaffected
Father				—	C-257T	98	N	1.38¶	Unaffected

Patient/country	Age at debut/age at sampling, y	No. episodes	Sex	FH		FH level, %⁴⁰ (normal range, 69%-154%)	FH function*	C3 level, g/L (normal range, 0.77-1.38 g/L)	Clinical features at sampling
Patient/country	Age at debut/age at sampling, y	No. episodes	Sex	Heterozygous mutation†	Polymorphism†	FH level, %⁴⁰ (normal range, 69%-154%)	FH function*	C3 level, g/L (normal range, 0.77-1.38 g/L)	Clinical features at sampling
Patient 1/Sweden	30/32, 33, 34	4	F	V1168E, SCR20	E936D SCR16, N1050Y SCR18	155	↓	0.59	Reduced renal function, plasma exchange every 7-14 d
Mother				V1168E	N1050Y	152	↓/N‡	1.81	Unaffected
Father					E936D	100	N	1.23	Lymphosarcoma
Patient 2/USA§	3/5, 8	1	F	E1198K, SCR20	—	105	↓	1.16	Renal failure hemodialysis
Mother				—	—	146	N	1.84	Unaffected
Father				—	—	97	N	1.18	Unaffected
Patient 3/Sweden	20/23, 25, 26	4 (at least)	F	C870R, SCR15	672Q SCR11 (G homozygote), 936D	58	↓	0.50	Renal failure, hemodialysis, and after transplantation
Mother				—	E936D	95	N	1.13	Unaffected
Father				C870R	E936D	50	N	0.71	Unaffected
Patient 4/Germany‖	< 1/2, 3	2	M	E1198 stop	C-257T, (C9669T) promoter	132	↓	0.84¶	Renal failure, peritoneal dialysis
Mother				E1198 stop	C-257T	102	N	0.68¶	Unaffected
Father				—	C-257T	98	N	1.38¶	Unaffected

— indicates not found.

Factor H dysfunction detected by hemolysis of sheep erythrocytes as described.⁴¹ Function normalized after addition of FH (final concentration 25 μg/mL) to patient serum.

†

Genomic DNA was sequenced and screened for mutations in the FH genes as described.⁵ Polymorphisms associated with increased risk for developing HUS are presented.^42,43

‡

FH function was tested twice. Once it was normal, and once it was slightly reduced.

The patient was previously described in Vaziri-Sani et al.⁵

‖

The patient was previously described in Lang et al.⁴⁴

Assayed in Tübingen (normal range, 0.60-1.60 g/L).

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