Table 3.

Clinical features of patients with genetic aberrations in CFHR5.

Patient	Diagnosis	Identified genetic and acquired complement deficiencies	Sex	Age at presentation	Trigger	Biochemical analysis			Treatment first episode	Outcome	Recurrences	Transplantation history
						C3	C4	sC5b-9
P8a	-	CFHR5: p.Ser195Thr	-	-	-	-	-	-	-	-	-	-
P32	sporadic aHUS	CFHR5: p.Trp436Cys	M	45 years	1	0.50 (↓)	0.40	N/A	1	1	1	1
P73	familial aHUS	CFHR5: p.Lys144Asnb; CFH: p.Arg1206Cys	M	22 years	1	0.83 (↓)	0.22	1.12	2	2	None	None
P74	familial aHUS	CFHR5: p.Lys144Asnb; CFH: p.Arg1206Cys; αFH	F	21 years	3	1.75	0.40	1.27	3	1	1	2
P75	sporadic aHUS	CFHR5: p.Leu105Argb	F	8 years	4	N/A	N/A	18.28 (↑)	4	1	1	1
P76	sporadic aHUS	CFHR5: p.Lys144Asn	F	18 years	4	0.48 (↓)	0.19	N/A	2	1	1	1

Patients are numbered according to an individual number. For P8 it was not possible to obtain clinical features. Explanation of the clinical features: ‘Triggers’: 1 indicates no trigger; 2 flulike, gastroenteritis, other infections; 3 pregnancy; 4 unknown. ‘Biochemical analysis’: (↓) indicates low values; N/A not available; normal values C3: 0.90 – 1.80 g/l; normal values C4: 0.15 – 0.45 g/l; normal levels sC5b-9: <1.0 AU/ml. ‘Treatment’: 1 indicates plasma, supportive treatment and drugs acting on immune system; 2 plasmapheresis, infusion or exchange; 3 plasma and drugs acting on both coagulation cascade and immune system; 4 unknown. ‘Outcome’: 1 indicates ESRF; 2 partial remission; 3 complete remission. ‘Transplantation history’: 1 indicates disease recurrence in graft; 2 good renal function at 1 year.

^aNot possible to obtain clinical features for this patient.

^bGenetic aberration considered as previously unknown SNP.