독립된 질환군으로서의 C1q 신병증

신정하,김태은,이교영,심상인,최영진 대한병리학회 2009 Journal of Pathology and Translational Medicine Vol.43 No.4

Background : C1q nephropathy (C1qN) is a controversial diagnostic entity defined by Jennette and Hipp in 1985. The prevalence is very low and a few large scale studies have been reported. Application of the criteria for clinical diagnostics of C1qN may cause confusion with other glomerulonephropathies, such as minimal change disease (MCD) or focal segmental glomerulosclerosis (FSGS). In order to clarify the confusion with glomerulonephropathies, we did this study to identify the clinicopathological characteristics and the exact disease entity of C1qN. Methods : A total of 5,258 kidney biopsies at Kangnam St Mary’s Hospital were reviewed. Twenty three cases (0.44%) met the criteria of C1qN. Twenty eight cases showing dominant C1q deposits without electron dense depostis (EDD) grouped as C1q+EDD-, and previously diagnosed typical cases of MCD and FSGS were selected for this study. Four groups were compared to each other with regard to the clinical and pathological aspects of the disease. Results : C1qN patients had an average age of 30.4 years. Eighteen were males and 5 were females. Eighty seven percent had proteinuria and 18% had hematuria. By electron microscopy analysis, 100% had mesangial EDD and 47.8% showed foot process effacement. C1qN had some significant differences compared with C1q+EDD-, MCD and FSGS. Conclusions : C1qN is clinically and morphologically different from MCD and FSGS. However, additional long term studies are needed to fully define C1qN from other glomerulonephritis with C1q deposits. Background : C1q nephropathy (C1qN) is a controversial diagnostic entity defined by Jennette and Hipp in 1985. The prevalence is very low and a few large scale studies have been reported. Application of the criteria for clinical diagnostics of C1qN may cause confusion with other glomerulonephropathies, such as minimal change disease (MCD) or focal segmental glomerulosclerosis (FSGS). In order to clarify the confusion with glomerulonephropathies, we did this study to identify the clinicopathological characteristics and the exact disease entity of C1qN. Methods : A total of 5,258 kidney biopsies at Kangnam St Mary’s Hospital were reviewed. Twenty three cases (0.44%) met the criteria of C1qN. Twenty eight cases showing dominant C1q deposits without electron dense depostis (EDD) grouped as C1q+EDD-, and previously diagnosed typical cases of MCD and FSGS were selected for this study. Four groups were compared to each other with regard to the clinical and pathological aspects of the disease. Results : C1qN patients had an average age of 30.4 years. Eighteen were males and 5 were females. Eighty seven percent had proteinuria and 18% had hematuria. By electron microscopy analysis, 100% had mesangial EDD and 47.8% showed foot process effacement. C1qN had some significant differences compared with C1q+EDD-, MCD and FSGS. Conclusions : C1qN is clinically and morphologically different from MCD and FSGS. However, additional long term studies are needed to fully define C1qN from other glomerulonephritis with C1q deposits.

스테로이드 치료 후 조직학적으로 확인된 C1q Nephropathy 완전관해

윤혜진 ( Hyaejin Yun ),정성민 ( Sung-min Jeoung ),이현순 ( Hyun Soon Lee ),조병수 ( Byoung-soo Cho ) 대한내과학회 2016 대한내과학회지 Vol.91 No.3

C1q nephropathy is a rare glomerular disease, defined by characteristic mesangial C1q immune deposition seen in immunofluorescence microscopy with no serological evidence of systemic lupus erythematosus. C1q nephropathy can be diagnosed with a subsequent biopsy, as with IgA nephropathy. There are some cases with an initial diagnosis of hematuria and proteinuria with minimal disease changes, focal segmental glomerulonephritis, and mesangial proliferative glomerulonephritis, but lacking C1q nephropathy, in which C1q deposition on immunofluorescence subsequently develops. We report a case that was diagnosed as diffuse mesangial proliferative glomerulonephritis, but a subsequent biopsy showed C1q nephropathy, with C1q deposition in both immunohistochemistry and electron microscopy (EM). We treated the C1q nephropathy with methylprednisolone and confirmed the disappearance of C1q depositions by both immunohistochemistry and EM in a follow-up biopsy. (Korean J Med 2016;91:311-315)

The appearance of C1q deposition in transplanted kidney allografts and its clinical and histopathologic features

조은아,김효기,민상일,문경철,한아람,안상현,민승기,하종원 대한이식학회 2022 Korean Journal of Transplantation Vol.36 No.3

Background: C1q nephropathy is an uncommon type of glomerulonephritis characterized by extensive and dominant C1q mesangial deposition in the absence of systemic lupus erythematosus. However, there are limited studies about C1q deposition in renal allografts. This study aimed to report the prevalence of C1q deposition in transplanted kidney allograft biopsies and describe its clinical and histopathologic features. Methods: Between January 2005 and December 2018, a total of 1,742 kidney transplantations were performed at Seoul National University Hospital. All renal allograft biopsies (n=10,217) of these patients were retrospectively screened for C1q deposition. C1q deposition was detected in the renal allograft biopsies of 104 patients (6.0%). Only 28 cases (1.6%) had intense (≥2+) C1q dominance and were reviewed in this study. Results: Among the 28 cases, only four (14.3%) had accompanying proliferative glomerulonephritis. Most did not have any other glomerular changes on light microscopy. No patients had nephrotic-range proteinuria at the time of biopsy. A follow-up biopsy was undertaken in 15 of the cases (53.6%). In these follow-up biopsies, C1q deposition either completely disappeared (n=13, 86.7%) or showed diminished staining (n=2, 13.3%). Conclusions: The prevalence of dominant or codominant C1q deposition in transplanted renal allograft biopsies was 1.6%. Most cases did not have any other accompanying glomerular changes. The follow-up biopsies of these allografts showed spontaneous disappearance or diminished staining of C1q deposition. These findings suggest that C1q deposition found in renal allografts is most likely clinically benign, although this possibility should be confirmed in further large-scale studies.

루푸스 신염의 활동성 예측 척도로서 혈청 C1q-Circulating Immune Complexes의 유용성

박성환 ( Sung Hwan Park ),김상현 ( Sang Hyon Kim ),김주연 ( Ju Youn Kim ),김해림 ( Hae Rim Kim ) 대한류마티스학회 2010 대한류마티스학회지 Vol.17 No.4

Objective: The purpose of this study was to evaluate whether serum C1q-circulating immune complexes (C1q-CIC) serve as a predictive marker for renal flares in patients with lupus nephritis. Methods: Twenty-five patients with lupus nephritis and 24 healthy controls were enrolled. Patients with lupus nephritis had their serum C1q-CIC titers and other serologic parameters such as serum C3, C4, anti-dsDNA antibody, and erythrocyte sedimentation rate measured simultaneously. The systemic lupus erythematosus disease activity index (SLEDAI) was also checked. Results: Serum C1q-CIC titers were higher in patients with lupus nephritis than in healthy controls (109.33±53.79 μg/mL vs. 75.28±22.91 μg/mL, p=0.008). A statistically significant association was found between serum C1q-CIC titers and C3 (p=0.011), C4 (p=0.027), and anti-dsDNA antibody (p=0.014). SLEDAI was also correlated with serum C1q-CIC titers (p=0.022). Conclusion: Serum C1q-CIC appears to be related to renal disease activity in patients with lupus nephritis. These results suggest that serum C1q-CIC is a predictive marker for renal flares in patients with lupus nephritis.

C1q nephropathy의 임상병리학적 소견

안신영 ( Shin Young Ahn ),박재윤 ( Jae Yoon Park ),이성우 ( Seong Woo Lee ),정종철 ( Jong Cheol Jeong ),정지용 ( Ji Yong Jung ),오국환 ( Kook Hwan Oh ),김연수 ( Yon Su Kim ),안규리 ( Cu Rie Ahn ),한진석 ( Jin Suk Han ),김성권 ( Su 대한신장학회 2010 Kidney Research and Clinical Practice Vol.29 No.2

Purpose: C1q nephropathy (C1qN) is a rare glomerulonephritis characterized by mesangial deposits, predominantly C1q, without the evidence of systemic lupus erythematosus (SLE). It showed various clinical courses, however, the clinicopathologic features of C1qN have not been well defined as yet. Methods: We retrospectively reviewed the clinicopathologic features of 11 patients (0.8%) diagnosed as C1qN among 1,403 patients aged 18 years who had undergone renal biopsy due to primary glo ≥-merular disease from Jan. 2000 to Jan. 2009. Diagnostic criteria of C1qN were as follows; 1) the presence of dominant or co-dominant immunofluorescence staining for C1q in the mesangium, 2) corresponding mesangial dense deposit by electron microscopy, and 3) lack of clinical evidence of SLE. Results: The male-to-female ratio was 6:5 and their mean age was 41.1±22.6 yrs (range, 19-69 yrs). Eight patients presented with urinary abnormalities and three with nephrotic syndrome. At the time of biopsy, three patients had hypertension. The mean value of 24-hour urine protein was 4.4±5.5g/day (range, 0.5-18.5g/day). On light microscopy, normal glomerular architecture (4/11) and segmental sclerosis (7/11) were observed. Complete or partial remission was achieved in six of the seven patients treated with immunosuppressive agents (steroid and/or immunosuppressants). Among these patients, two using steroid monotherapy had relapsed. The mean follow-up duration was 14±11 months (range, 2-31 months) and renal function deterioration was observed in three patients. Conclusion: C1qN showed various clinical manifestations and prognosis. Therefore, additional studies are needed to fully define the clinicopathologic features.

남매에서 발생한 C1q 신증 2례

김수영,김성헌,문경철,신재일,정현주,Kim, Su-Young,Kim, Seong-Heon,Moon, Kyung-Chul,Shin, Jae-Il,Jeong, Hyen-Joo 대한소아신장학회 2012 Childhood kidney diseases Vol.16 No.1

C1q 신병증은 1985년 Jennett와 Hipp에 의해 발표된 이래 어린 영아에서부터 청 장년층에 까지 발표되어 왔으나 아직 임상병리학적으로 논란이 많은 질환이다. 저자들은 어린 남매에서 스테로이드 저항성의 콩팥증후군의 임상 양상을 보이며 병리 조직학적으로 국소분절사구체경화증과 메산지움에 C1q의 현저한 침착을 보인, C1q 신증을 발표하는 바이다. C1q nephropathy is a distinct clinicopathologic entity, characterized by mesangial immunoglobulin and complement deposits, predominantly C1q, with no evidence for systemic lupus erythematosus. Clinically it may present as nephrotic syndrome and non-nephrotic proteinuria per se or associated with microscopic hematuria, gross hematuria, hypertension, or renal insufficiency. So far there is only one report about a familial case of C1q nephropathy (in two sisters). We present two cases of familial C1q nephropathy with nephrotic syndrome which was steroid resistant, but partially remitted with cyclosporine.

Three novel C1q domain containing proteins from the disk abalone Haliotis discus discus: Genomic organization and analysis of the transcriptional changes in response to bacterial pathogens

Bathige, S.D.N.K.,Umasuthan, N.,Jayasinghe, J.D.H.E.,Godahewa, G.I.,Park, H.C.,Lee, J. Academic Press 2016 FISH AND SHELLFISH IMMUNOLOGY Vol.56 No.-

<P>The globular C1q (gC1q) domain containing proteins, commonly referred as C1q domain containing (C1qDC) proteins, are an essential family of proteins involved in various innate immune responses. In this study, three novel C1qDC proteins were identified from the disk abalone (Haliotis discus discus) transcriptome database and designated as AbC1qDC1, AbC1qDC2, and AbC1qDC3. The cDNA sequences of AbC1qDC1, AbC1qDC2, and AbC1qD0 consisted of 807, 1305, and 660 bp open reading frames (ORFs) encoding 269, 435, and 220 amino acids (aa), respectively. Putative signal peptides and the N-terminal gC1q domain were identified in all three AbC1qDC proteins. An additional predicted motif region, known as the coiled coil region (CCR), was identified next to the signal sequence of AbC1qDC2. The genomic organization of the AbC1qDCs was determined using a bacterial artificial chromosome (BAC) library. It was found that the CDS of AbC1qDC1 was distributed among three exons, while the CDSs of AbC1qDC2 and AbC1qDC3 were distributed between two exons. Sequence analysis indicated that the AbC1qDC proteins shared <40% identity with other counterparts from different species. According to the neighbor joining phylogenetic tree, the proteins were grouped within an invertebrate group with high evolutionary distances, which suggests that they are new members of the C1qDC family. Higher expression of AbC1qDC1 and AbC1qDC2 was detected in hepatopancreas, muscle, and mantle tissues compare to the other tissues analyzed, using reverse transcription, followed by quantitative real-time PCR (qPCR) using SYBR Green, whereas AbC1qDC3 was predominantly expressed in gill tissues, followed by muscles and the hepatopancreas. The temporal expression of AbC1qDC transcripts in gills after bacterial (Vibrio parahaemolyticus and Listeria monocytogenes) and lipopolysaccharide stimulation indicated that AbC1qDCs can be strongly induced by both Gram-negative and Gram-positive bacterial species with different response profiles. The results of this study suggest that AbC1qDCs are involved in immune responses against invading bacterial pathogens. (C) 2016 Published by Elsevier Ltd.</P>

한반도 남동부지역 코다 Q의 비교 분석

정태웅 ( Tae Woong Chung ),최수현 ( Soo Hyun Choi ) 한국지구물리·물리탐사학회 2011 지구물리와 물리탐사 Vol.14 No.3

Based on intrinsic and scattering quality factor (Q(i)-1 and Q(s)-1) obtained from the seismic data of the southeastern Korean Peninsula, the expected coda quality factor (Q(Cexp)-1) was theoretically calculated using multiple scattering model, and was compared with other quality factors such as Q(i)-1, Q(s)-1, and observed Q(c)-1 obtained by single scattering model. While the Q(Cexp)-1 values are typically comparable to the Q(i)-1 values, the Q(c)-1 values are different from the Q(Cexp)-1 values except for the higher frequency. Future works require to consider depth-dependent attenuation.

방사성핵종 심혈관조영술에 나타난 좌우단락

손혜경,이재태,채성철,전재은,박의현,이규보,황기석 慶北大學校 醫科大學 1989 慶北醫大誌 Vol.30 No.3

저자는 1987년 1월부터 1989년 2월까지 경북대학교병원 핵의학과에서 방사성핵종 심혈관조영술을 시행하여 좌우단락을 검사한 110례를 대상으로 하고 정상인 30례를 대조군으로 하여 컴퓨터에 수록된 동적영상을 재생하여 분석하고 아울러 임상소견을 참고하여 좌우단락의 결정에 미치는 영향을 검토하였다. 대상자는 심방중격결손증 32례, 심실중격결손증 18례 동맥관개존증 12례 각종의 심판막질환 43례 허혈성심장병 5례였으며 성별로는 남녀 각각 58과 52례였으며 연령적으로는 14세에서 72세 사이였다. 동적영상에서는 좌우단락이 있는 예에서는 폐에서 방사능혈류과 지속적으로 나타나는 지연영상이 저명하였고 좌심실과 대동맥은 매우 흐리게 나타났었다. 순환기계 시간-방사능곡선을 심방중격결손증에서는 우심방, 우심실과 폐에서 하행곡선의 지연이 있었고 심실중격결손증에서는 우심실과 폐에서 하행곡선의 지연이 있었고 동맥관개존증에서는 좌폐에서 하행곡선의 지연이 있었다. 폐의 시간-방사능곡선에서 하행곡선의 지연 또는 부수적인 상행곡선이 나타나고 있었는데 그 모양만으로서는 좌우단락의 부위를 결정할 수는 없었다. 초기폐순환 소실계수치인 C_2/C_1 비율은 정상인에서 29.4±5.95%였고 심방중격결손증에서 57.9±8.82%, 심실중격결손증에서 46.3±6.85% 동맥관개존증의 좌폐에서는 53.1±5.38% 판막질환에서는 28.5±7.24 허혈성심질환에서는 26.3±5.36%였다. 체순환에 대한 폐순환의 혈행비인 Q_p/Q_s비를 구하여 deconvolution전후를 비교한 결과는 각각에서 그 평균과 편차가 약간 감소하는 경향이었으며, 산소측정법 Q_p/Q_s 비와의 상관계수는 deconvolution전에는 0.74이었고 deconvolution후에는 0.75이었다. 폐통과시간은 연장된 예가 많았고 C_2/C_1 비율은 좌우단락의 진단적 기준에서는 정상에 비하여 유의한 차이가 있었으나 폐통과시간과 C_2/C_1 비율은 Q_p/Q_s와의 상관성에 있어서는 의의가 없었다. 이상의 결과를 요약하면 방사성핵종 심혈관조영술에서 좌우단락의 진단소견은 C_2/C_1 비율이 진단기준으로서의 가치가 있고 Q_p/Q_s비는 좌우단락량의 추정에 뒷받침하는 자료가 될 뿐만이 아니라 Q_p/Q_s비에서 구한 정량적 소견은 특히 심실중격결손증의 진단에 가치가 있다고 본다. To investigate the influencing factors in determination of left-to-right shunt in the radionuclide angiocardiography, the author evaluated the first pass study of 110 cases with various cardiovascular diseases. The cases included 32 with a atrial septal defect, 18 with an ventricular septal defect, 12 with patent ductus arteriosus, 43 with valvular heart disease, 5 with ischemic heart disease, and a control of 30 normal healthy adults. The serial scintiimages of the central circulation showed persistent visualization of the pulmonary activity, and poor visualization of the left ventricle and aorta in the cases of left-to-right shunt. The pulmonary time-activity curve in the shunt group revealed a remarkably delayed downslope of the first pass peak, but the configuration itself did not provide information of the site of left-to-shunt. The C_2/C_1 ratios are significant parameters in the diagnosis of left-to-right shunt. Radionuclide Q_p/Q_s have significantly good correlation with oximetric Q_p/Q_s. The pulmonary transit time has less meaning to the diagnosis of left-to-right shunt, because it is delayed in many normal cases. Deconvolution analysis of the pulmonary time-activity curve with superior vena caval time-activity curve has some tendency to reduce the mean Q_p/Q_s and its standard deviation, but not significantly.

Solid Phase C1q ELISA 법을 이용한 혈중 면역복합체 측정에 관한 연구

이수곤(Soo Kon Lee),홍천수(Chein Soo Hong),허갑범(Kap Bum Huh),박기일(Ki Il Park) 대한내과학회 1987 대한내과학회지 Vol.33 No.6

N/A An assay for circulating immune complexes that is adaptable to a routine clinical laboratory is described. Solid phase C1q ELISA was performed using the serum of 35 SLE patients, 12 RA patients and 100 normal controls. The results are as follows; 1) The sensitivity of SP C1q ELISA for CIC ranged 0.48-30 ㎍/ml AHGG equivalents. 2) The method was reproducible with CV% (coefficient of variation) of <20% in the abnormal range. 3) Ninety-five percent of the sera from normal volunteers showed<25 ㎍/ml AHGG euqivalents. 4) 27 of 35 (77%) of sera from patients with systemic lupus erythematosus (SLE) showed elevated levels of immune complexes than controls. 5) The SP C1q ELISA activity correlated (r=0.68) with the clinical activity of SLE patients. In conclusion, SP C1q ELISA method is very sensitive and reproducible for detecting circulating immune complexes and valuable to evaluate the clinical activity of SLE patients.