Objective To report a Chinese boy suffering from nephrotic syndrome associated with Schimke immuno-osseous dysplasia（SIOD）. Methods The clnical data and pathological changes of renal biopsy were analyzed and associated literatures were reviewed. The clinicopathological features and diagnosis of SIOD were discussed. Results The first symptom of the patient was recurrent infections. Growth retardation, spondyloepiphyseal dysplasia accompanied by nephrotic syndrome and defective cellular immunity were seen as clinical features in this patient. Renal pathology showed focal segmental glomerulosclerosis. Conclusion Combining the clinical manifestation with renal pathology, the case is diagnosed as Schimke immuno-osseous dysplasia.

Objective To elucidate the features of clinicopathology and mutation in Fabry disease complicated with thin basement membrane nephropathy (TBMN), and to investigate the kindred. Methods Data of clinicopathology and gene mutation of a female patient of Fabry disease complicated with TBMN admitted to the Department of Nephrology in our hospital were analyzed. Members of her kindred were investigated simultaneously. Results Proband was a 41-year-old Chinese woman who presented syndrome of Fabry disease and TBMN including angiokeratomas, chronic pain, tinnitus, vertigo, left ventricular hypertrophy and nephropathy as proteinuria, microscopic hematuria and hypertension. A percutaneous renal biopsy was performed on the proband, which was consistent with FSGS and vaculization of podocytes by light microscopy. Electron microscopy showed concentric lamellated inclusions in some podocytes. Diffuse thinning of glomerular basement membrane (GBM) with a mean thickness of (216±31) nm was found. The diagnosis of TBMN with suspected Fabry disease was identified. Family screening showed that her daughter had microscopic hematuria, tinnitus and neuropathic pain. One of her sisters only had microscopic hematuria. The activity of α-galacsidase A（α-Gal A）enzyme in the proband and her daughter was 33 units and 75 units respectively (the normal range is 100 to 500 units). They all carried the novel GLA mutation 1208 ins 21 bp and COL4A3 SNP c: 3627G>A(p:M1209I). While her sister who only had microscopic hematuria just carried the variant of COL4A3 gene—c: 3627G>A (p:M1209I), and had the normal activity of α-Gal A with no mutation of GLA. Conclusion TBMN should be considered in the patients of Fabry disease with the condition of benign familial hematuria.

Objective To report a rare case of renal amyloidosis secondary to Castleman’s disease, and to review literatures concerned. Methods and Results A 43-year-old man, who was followed up for three years, presented proteinuria, anemia and poly-site enlarged lymph nodes. Renal amyloidosis of AA type was diagnosed by pathological examination of renal biopsy samples, and Castleman’s disease of multicentric and plasma cells type was diagnosed by immunology and pathological examination of lymph node biopsy samples. Conclusion Castleman’s disease can result in renal amyloidosis, which pathogenic mechanism may be associated with the abnormal immune states caused by Castleman’s disease.

本文报告1 例维持性血液透析7 年继发甲状旁腺功能亢进症（secondary hyperparathyroidism，SHPT）并发多发转移性钙化的患者。与既往报道的SHPT 转移性钙化不同，该患者同时出现多部位的钙化，其中包括肺转移性钙化（metastatic pulmonary calcification，MPC）、肩关节及肘关节周围软组织转移性钙化、全身血管严重钙化、足底钙化防御（calciphylaxis）。该患者接受了甲状旁腺切除术（parathyroidectomy，PTX），术后5个月关节处转移性钙化完全吸收，肺转移性钙化大部分吸收，但血管钙化无好转。

本文报道1 例SLC4A1 基因自发突变致远端肾小管酸中毒（distal renal tubular acidosis，dRTA）病例，该患者系中年男性，属于罕见发病人群，临床表现为严重低钾性周期麻痹、重度骨质疏松及肾结石，基因测序分析示SLC4A1 基因c.1765C＞T（p.R589C）自发突变。予补钾、纠酸、防治骨病、护肾等对症支持治疗后，四肢肌无力症状明显改善。本病例提示对髓质海绵肾（medullary sponge kidney，MSK）患者，无论起病年龄大小均应警惕合并dRTA 的可能；对患者及亲属行基因测序可提高其早期诊断率。

Objective To investigate the mutations of WT1 gene in Chinese patients with Denys-Drash syndrome (DDS). Methods Peripheral blood samples were collected from two children diagnosed clinically as DDS and genomic DNA was isolated from all blood samples using routine method. All coding WT1 exons and their flanking intronic sequences were amplified by polymerase chain reaction(PCR). The amplified PCR products from all individuals were then subjected to automatic DNA sequencing. Results Two types of heterozygous missense mutations in the WT1 gene were：(1)c.1180 C to T transition in exon 9，resulting in replacement of an arginine residue by tryptophan (c.1180C>T， p.R394W).(2)c.1203 C to T transition in exon 9， resulting in replacement of a histidine residue by glutamine(c.1203C>A， p.H401Q). It is the first time that c.1203C>A(p.H401Q) mutation was reported. Conclusions Two mutations including a novel missense mutations(c.1203C>A， p.H401Q) in the WT1 gene are identified in two Chinese children with DDS. Our data also support that the WT1 in DDS locates at c.1180C>T， p.R394W in exon 9.

Objective To investigate the clinical features of pneumocystis pneumonia (PCP) in patients with chronic kidney disease. Methods Clinial data of 21 cases of the primary and secondary kidney diseases complicated with PCP, excluding renal transplantation, were analyzed retrospectively. Results Twenty-one cases consisted of 6 cases of primary renal diseases and 15 cases of secondary renal diseases. Twenty patients（95.2%） were receiving immunosuppressive therapy at the PCP onset. Main manifestations were fever, progressive dyspnea, cough with no or seldom sputum. Twenty patients presented obvious hypoxemia and 12 of them were type I respiratory failure. X-ray and CT imaging of 20 patients revealed diffuse pulmonary interstitial shadows or ground glass opacities in both lungs. All the patients were treated with trimethoprim-sulfamethoxazole. Eleven patients died accounting for 52.3%. Compared with the survivors, elder age (60.91±15.08 vs 44.50±14.83, P<0.05), lower blood oxygen pressure at onset [(48.11±19.05)mm Hg vs (65.91±13.13)mm Hg, P<0.01], higher percentage of respirator application and other secondary lung infection were found in dead patients. No PCP relapsed after average 16-month follow-up in the survival patients. Conclusions PCP is a severe complication with high mortality during immunosuppressive therapy in patients with chronic renal disease. Early diagnosis and proper treatment are important to improve prognosis.

Objective To introduce a case of varicella-zoster virus (VZV) -related glomerulonephritis and encephalitis. Methods The clinical data and renal pathology were analyzed. Associated literatures were reviewed. Results A 15 years old male patient presented nephritic syndrome, nephrotic syndrome and renal dysfunction with reduced serum complement C3 level from the 5th day after he suffered from varicella. The pathological diagnosis of his kidney tissue was endocapillary proliferative glomerulonephritis with podocyte proliferation and severe renal tubular injury by light microscopy. Immunofluorescent and electron microscopic examinations showed “full-house” staining and granular electron-dense deposits in multiple sites, respectively. Furthermore, virus-like particles or/and inclusions could also be seen by electron microscopy and Mann staining light microscopy. Positive varicella-zoster virus (VZV) specific IgM antibody was detected by serum virological test. VZV antigen and RNA transcript were found in glomerular and tubular cells by immunohistochemical staining and in situ hybridization of renal tissues, respectively. The patient had epileptic episodes for many times in his disease course and his brain MRI and electroencephalogram findings accorded with viral encephalitis with secondary epilepsy. So, the diagnosis of VZV-related glomerulonephritis and encephalitis was established. Conclusion This is the first report of VZV-related glomerulonephritis and encephalitis confirmed by serum virology and tissue virology.

Objective To study the mutations of apolipoprotein E(apoE)gene in 4 Chinese lipoprotein glomerulopathy(LPG)patients and their family members，and to investigate the pathogenesis of LPG. Methods Urinalysis was performed on the family members of two patients， and they were screened for the level of serum creatinine，serum lipid and serum lipoprotein. The mutation of apoE gene was detected by direct sequencing after PCR of apoE exons. PCR RFLP was used to identify the mutations in family members. Results Two kinds of mutation of apoE gene were identified in these 4 patients. A 9 bp deletion in exon 4， resulting in a 3-amino acid deletion (residues 142-144-0) was confirmed in 2 patients and a point mutation in exon 3 resulting in Arg25Cys was found in another 2 patients. Above mutations were found in the patients′ relatives who had normal urinalysis results. Conclusions The 3-amino acid deletion (142-144-0) of apoE gene is the common mutation to cause LPG in Chinese patients. Both mutations could be found in their relatives without LPG.

Objective To analyze the clinical and pathologic characteristics of IgA or non-IgA mesangial proliferative glomerulonephritis associated with psoriasis. Methods Clinical and pathologic data from 6 patients suffered from IgA or non-IgA mesangial proliferative glomerulonephritis associated with psoriasis were reviewed. They were admitted to our hospital from 1983 to 2004 and diagnosed by renal biopsy. Results Two male and four female patients were average thirty-eight years old. Renal damages occurred at average sixteen years after diagnosis of psoriasis.Two patients presented asymptomatic hematuria or proteinuria, three with chronic glomerulonephritis and one with nephritic syndrome. All patients suffered from microhematuria and two from macrohematuria. The average 24 hours proteinuria was 2.05 g. Two had hypertension. All serum creatinine results were normal. Immunofluorescent examination of renal biopsy showed four cases with IgA deposited in mesangium, one with IgG deposited in mesangium, and one with negative immunofluorescent result. Microscopy examination showed three with mild and the others with moderate mesangial proliferation. No crescents and severe chronic tubulointerstitial lesions were found. Two cases showed intimal hyperplasia and stenosis of small renal arteries. Conclusions It is quite common that IgA or non-IgA mesangial proliferative glomerulonephritis in renal involvement is associated with psoriasis. Mesangial proliferative glomerulonephritis may be related to psoriasis.

Objective To report 2 cases of HIV infection complicated with kidney disease for the first time in China. Methods The clinical manifestation of 2 HIV-seropositive male patients and pathological findings by renal biopsy were collected. Results The HIV-1 seropositive male patient was 69 years old. He was diagnosed as nephrotic syndrome （NS） complicated with renal insufficiency. Renal biopsy revealed characteristic focal segmental glomerular sclerosis（FSGS）, non-collapsing, tubulointerstitial prominent lymphocytic infiltration. These characteristics were partially compatible with human immunodeficiency virus-associated nephropathy (HIVAN). According to NS and normal range of CD4, he was recommended with steroid and immunosuppressive therapy while absent of highly active anti-retroviral therapy (HAART). During one-year followed up, he had experienced several episodes of severe infection without remission of NS. After immunosuppressive therapy withdrawal and counterchecked low level of CD4, he received HAART for HIV treatment. The other patient was a hemophile-infected AIDS complicated with chronic hepatitis C， haemophilia A(lack of factor Ⅷ)， and diabetes mellitus（DM）. Proteinuria and chronic renal failure occurred after 1 year of HAART. During the therapy period, the renal function was impaired progressively and irreversibly entered into ESRD at the 3rd year of HAART. Conclusions The clinical and pathological manifestation of HIV infection complicated with kidney disease shonld be known in China. For HIV-infected kidney impaired patients suspected of HIVAN or other pathological pattern, it is important to establish the diagnosis and treatment by renal biopsy.

Objective To analyze the clinicopathological characteristics of systemic lupus erythematosus (SLE) with secondary antiphospholid syndrome (APS) . Methods Data of 11 cases of SLE with secondary APS (SLE with APS) admitted to Peking Union Medical College Hospital from January 2000 to March 2010 were retrospectively analyzed. Kidney biopsy was performed on all of these patients. Differences of clinicopathology and outcomes between SLE with and without APS were compared. Results Renal involvement was found in all the SLE with APS patients. The prominent clinical manifestations included hypertension (54.5%), nephrotic level of proteinuria （24 h proteinuria ≥3.5 g）(72.7%) and renal insufficiency (45.5%). Diastolic blood pressure, mean arterial pressure and glomerular filtration rate in SLE with APS were significantly higher than those in SLE without APS (all P<0.05). In 8 out of 11 cases (72.7%), APS nephropathy (APSN) in kidney biopsy was found, characterized by small vessel vaso-occlusive lesions. These included thrombotic microangiopathy (TMA), fibrous intimal hyperplasia (FIH), focal cortical atrophy (FCA) and tubular thyroidization. Among those, 5 cases (45.5%) had chronic APSN and 4 (36.4%) had acute APSN (one case had acute and chronic APSN at the same time). The incidences of APSN and acute APSN in the SLE with APS group were significantly higher than those in SLE without APS group (P<0.05). Conclusions The major renal manifestations of SLE with APS are hypertension, nephrotic level of proteinuria and renal insufficiency. Other than lupus nephritis, also a high incidence of APSN is found in SLE with APS patients.

Objective To evaluate imaging findings and treatment experience in central venous stenosis without a history of previous catheterization in hemodialysis patients. Methods Clinical data of 5 haemodialysis cases of central vein stenosis without a previous catheterization history in our hospital from July 2006 to July 2008 were analyzed retrospectively. Results Patients were three women and two men aged 43 to 65 years with mean age (53±8) years and all had arm swelling as the main complaint. The vascular accesses were located at the wrist in all the patients. The mean duration of the vascular accesses from the time of creation was (33.6±35.4) months. Venography showed occlusion in 2 cases and stenosis in 3 cases of central vein including 1 case of stenosis in brachiocephalic vein, 1 case of stenosis both in branchiocephalic vein and subclavian vein, 1 case of stenosis in two segments of subclavian vein. The stenosis of branchiocephalic vein was fixed anterior to the tracheal and CT showed the compression of the vein by the aorta. Symptoms were resolved by the treatment of PTA, subclavian vein-contralateral subclavian vein bypass and ligation of the access. Conclusions Central venous stenosis in haemodialysis patients without a history of catheterization may be due to the intimal hyperplasia of the compression site or valve which is accelerated by the high flow of vascular access. Venography is the first choice for the diagnosis and the current management of central venous stenosis is far from being effective for the long term.