Copy number variation analysis using next-generation sequencing identifies the CFHR3/CFHR1 deletion in atypical hemolytic uremic syndrome: a case report

Figures & data

Table 1. Results of laboratory blood analyses in a Korean patient with atypical hemolytic uremic syndrome.

WBC, ×10^6/µL (Reference range, 4.8–10.8)	1.97	BUN, mg/dL (8–23)	66
RBC, ×10^12/L (4.2–5.1)	2.24	Creatinine, mg/dL (0.7–1.7)	4.14
Hemoglobin, g/dL (12–16)	7.3	Cystatin-C, mg/L (0.64–1.23)	7.73
Hematocrit, % (37–47)	22.4	AST, IU/L (12–33)	49
RDW, % (11.5–14.5)	22.1	ALT, IU/L (5–35)	20
Reticulocyte, % (0.5–2)	4.2	ALP, IU/L (35–105)	65
Platelet, ×10^6/µL (130–450)	24	GGT, IU/L (8–48)	17
PT, sec (9.2–12.6)	14.4	Total bilirubin, mg/dL (0.2–1.2)	1.15
aPTT, sec (24.8–36.1)	36.5	Direct bilirubin, mg/dL (<0.4)	0.56
Fibrinogen, mg/dL (191–471)	178	LD, IU/L (218–472)	650
FDP, µg/mL (< 2.01)	5.61	Ferritin, ng/mL (10–291)	552.8
D-dimer, mg/L FEU (< 0.49)	2.05	CK-MB, ng/mL (<2.88)	<1.0
Antithrombin III, % (71–129)	35	Pro-BNP, pg/mL (<113)	3419
Factor VIII, % (60–150)	106	hsTnT, ng/mL (<0.013)	<0.013
Protein C Ag, % (72–160)	37.6	Anti-dsDNA	Negative
Protein S Ag, % (60–150)	69	Anti-SSA/Ro Ab	Negative
ADAMTS13 activity, % (≥40)	54.9	Anti-SSB/La Ab	Negative
CH50, U/mL (23–46)	30.3	Anti-RNP Ab	Negative
C3, mg/dL (90–180)	62.6	Anti-Sm Ab	Negative
C4, mg/dL (10–40)	15.3	Anti-PR3 Ab	Negative
Lupus anticoagulant	Positive	Anti-MPO Ab	Negative
Irregular antibody screening	Negative	Anti-phospholipid Ab IgM/IgG	Negative
Direct/Indirect Coombs’ test	Negative	Anti-cardiolipin Ab IgM/IgG	Negative

Notes: WBC, white blood cell; RBC, red blood cell; RDW, red cell distribution width; PT, prothrombin time; aPTT, activated partial thromboplastin time; BUN, blood urea nitrogen; AST, aspartate aminotransferase; ALT, alanine aminotransferase; ALP, alkaline phosphatase; GGT, gamma-glutamyl transpeptidase; LD, lactate dehydrogenase.

Figure 1. The heterozygous CFHR3/CFHR1 deletion identified by copy number variation (CNV) analysis using next-generation sequencing and multiplex ligation-dependent probe amplification (MLPA) in a patient with atypical hemolytic uremic syndrome. (A) CNV detection tool identifies a heterozygous partial deletion of chromosome 1q31.3, including a region from the CFHR3 and the CFHR1 genes, with a Z ratio between −0.5 and −1. (B) MLPA demonstrates a heterozygous deletion between the CFHR3 (NM_021023.5; 5UTR, exon 1, exon 2, exon 3, intron 4, and exon 6) and the CFHR1 (NM_002113.2; intron1, intron 3, exon5, and exon 6) genes on chromosome 1q31.3 in the patient.