. 2018 Jun 1;29(8):2234–2243. doi: 10.1681/ASN.2018020184

Table 2.

Complement defects at the time of renal biopsy

No.	Mutation(s)	CFH-H3	ΔCFHR1-3	FHAA	C4, g/L (0.11–0.35)	C3, g/L (0.75–1.35)	CPFA, % (>75)	sC5b9, ng/ml (<337)	C5b9 Formation on HMEC-1, % of the Control
No.	Mutation(s)	CFH-H3	ΔCFHR1-3	FHAA	C4, g/L (0.11–0.35)	C3, g/L (0.75–1.35)	CPFA, % (>75)	sC5b9, ng/ml (<337)	Resting	ADP Activated
TMA and severe hypertension
1	No mutations	N	Y	ND	0.35	1.45	119	1252	223^a	190^a
2	CFI-P50A,³⁷ THBD-T478I	Y	Y	ND	ND	ND	ND	ND	ND	ND
3	No mutations	Y	Y	None	0.36	1.40	ND	4200	160	117
4	No mutations	N	Y	None	0.24	0.81	113	740	353^a	205^a
5	No mutations	N	N	None	0.35	1.56	113	3800	198^a	204^a
6	No mutations	N	N	None	0.23	1.17	ND	480	245^a	340^a
7	No mutations	Y	N	None	0.26	0.82	90	440	224^a	ND
8	C3-R161W³⁸	N	Y^b	None	0.14	0.72	110	1840	373^a	246^a
9	CFI-N151S³⁷	N	N	ND	0.27	1.20	97	4200	395^a	252^a
10	No mutations	N	N	ND	0.19	0.87	99	1800	253^a	ND
11	CFH-C853R	Y	N	ND	0.21	0.63	104	1840	339^a	253^a
12	C3-R161W³⁸	Y	N	ND	0.30	0.88	94	640	463^a	404^a
13	CD46-ΔD237/S238,³⁹ CFH-Q950H²⁷	Y	Y	None	0.28	0.89	97	1000	284^a	272^a
14	C3-R161W³⁸	N	N	None	0.20	0.69	95	2800	310^a	325^a
15	No mutations	N	N	None	0.25	1.10	105	1800	140	92
16	C3-R161W³⁸	Y	N	ND	0.47	0.74	ND	ND	336^a	283^a
17	No mutations	Y	N	ND	ND	0.64	50	ND	306^a	255^a
Hypertensive arterionephrosclerosis
1	ND	ND	ND	ND	0.33	1.37	122	2360	70	ND
2	ND	ND	ND	ND	0.37	1.36	122	888	89	71
3	ND	ND	ND	ND	0.26	0.95	67	ND	76	87
4	ND	ND	ND	ND	0.27	2.00	110	780	ND	81
5	ND	ND	ND	ND	0.38	1.22	103	1168	67	77

ΔCFHR1-3, deletion of complement factor H–related genes CFHR1 and CFHR3; FHAA, factor H autoantibodies; CPFA, classic pathway functional activity; HMEC-1, human microvascular endothelial cells of dermal origin; TMA, thrombotic microangiopathy; N, no; Y, yes, ND, not determined.

P value <0.05.

Genetic abnormality was found in heterozygosity.