Vesna Jurčić

Pathology, Clinical Presentations, and Outcomes of C1q Nephropathy

C1q nephropathy is an uncommon glomerular disease with characteristic features on immunofluorescence microscopy. In this report, clinicopathologic correlations and outcomes are presented for 72 patients with C1q nephropathy. The study comprised 82 kidney biopsies from 28 children and 54 adults with male preponderance (68%). Immunofluorescence microscopy showed dominant or co-dominant staining for C1q in the mesangium and occasional glomerular capillary walls. Electron-dense deposits were observed in 48 of 53 cases. Light microscopy revealed no lesions (n = 27), focal segmental glomerulosclerosis (FSGS; n = 11), proliferative glomerulonephritis (n = 20), or various other lesions (n = 14). Clinical presentations in the patients who had no lesions histology were normal urine examination (7%), asymptomatic hematuria and/or proteinuria (22%), and nephrotic syndrome (minimal change-like lesion; 63%), which frequently relapsed. All patients with FSGS presented with nephrotic syndrome. Those with proliferative glomerulonephritis usually presented with chronic kidney disease (75%) or asymptomatic urine abnormalities (20%). Of the patients with sufficient follow-up data, complete remission of the nephrotic syndrome occurred in 77% of those with a minimal change-like lesion, progression to end-stage renal disease occurred in 33% of those with FSGS, and renal disease remained stable in 57% of those with proliferative glomerulonephritis. In conclusion, this study identified two predominant clinicopathologic subsets of C1q nephropathy: (1) Podocytopathy with a minimal change-like lesion or FSGS, which typically presents with nephrotic syndrome, and (2) a typical immune complex-mediated glomerular disease that varies from no glomerular lesions to diverse forms of glomerular proliferation, which typically presents as chronic kidney disease. Clinical presentation, histology, outcomes, and presumably pathogenesis of C1q nephropathy are heterogeneous.

Infantile myofibroma in a prematurely born twin: a case report.

Abstract: Infantile myofibromatosis is a rare benign tumor of infancy and childhood that occurs in solitary, multiple, and generalized forms with similar histology but different clinicopathologic and prognostic implications. Even solitary tumors need follow‐up, as the type of presentation will be determined over time. It is necessary to differentiate this entity from other more aggressive tumors, especially rhabdomyosarcoma, which is treated by chemotherapy prior to excision. We describe a prematurely born twin girl who had at birth a solitary tumor of the cervicoscapular region, involving the dermis and subcutis. A fine‐needle aspiration biopsy (FNAB) specimen obtained soon after her birth suggested a diagnosis of benign neoplasm. The tumor was excised 1 month later, at which time it was significantly enlarged, ulcerated, and also exhibited worrisome histologic features including mitoses and infiltrative growth. It had the characteristic histologic pattern of infantile myofibromatosis, and myofibroblastic features of tumor cells were confirmed immunohistochemically and ultrastructurally. During the follow‐up period of 39 months, there was no sign of recurrence or new tumors.

Goodpasture's syndrome with concomitant immune complex mixed membranous and proliferative glomerulonephritis.

Classical Goodpastures (GP) syndrome is a monophasic illness characterized by pulmonary hemorrhage and rapidly progressive glomerulonephritis with linear IgG deposition along the glomerular and distal tubular basement membrane and estructive necrotizing diffuse extracapillary crescentic glomerulonephritis. The majority of patients have circulating anti-glomerular basement membrane (GBM) antibodies, detectable with standard anti-GBM ELISA. Concurrence of GP syndrome with proliferative glomerulonephritis has only rarely been described. In this report, for the first time we describe in a 21-year-old woman GP syndrome with 50% crescentic sclerosing glomerulonephritis with linear immunofluorescence characteristic of anti-GBM pathogenesis, combined with mixed membranous and membranoproliferative glomerulonephritis with granular immunofluorescence and subepithelial, mesangial and subendothelial deposits characterizing immune complex pathogenesis. The clinical picture was also unusual for GP syndrome, manifesting a recurrent but non-progressive course, nephrotic syndrome, normal renal function and low values of anti-GBM antibodies, identified only by novel more sensitive techniques.

Extraosseus Plasmacytoma of the Pharynx with Localized Light Chain Deposition. Case Report

Light chain deposition disease (LCDD) is a rare disorder associated with a clonal proliferation of plasma cells, which synthesize abnormal monoclonal immunoglobulin light chains. It is characterized by systemic deposition of light chains in various organs, with the kidneys being most commonly affected. There have been few reports of isolated LCDD, i.e. in the brain, lungs and cervical lymph nodes. We here report on another patient with an isolated form of LCDD, which was limited to the pharyngeal mucosa and was associated with an extraosseus plasmacytoma of the pharynx, expanding the spectrum that has been recognized for LCDD. The patient was treated by local radiotherapy, with an excellent response. A less aggressive clinical course can probably be expected than in the usual form of LCDD, but a long-term follow-up is necessary to establish the clinical significance of this variant of LCDD.

Expression of desmosomal proteins in acantholytic squamous cell carcinoma of the skin.

Acantholytic (adenoid) squamous cell carcinoma (ASCC) is a subtype of squamous cell carcinoma (SCC) in which neoplastic tumour cells form gland-like structures. Little is known about the pathogenetic mechanisms of ASCC. We hypothesised that they may be related to the compositon of desmosomes. We analysed the immunohistochemical expression of desmosomal proteins in 5 cases of ASCC of the skin, in comparison to 5 cases of conventional SCC of the skin. The most consistent findings were loss of desmoglein 1 (DSG 1), desmoglein 3 (DSG3), desmocollin 1 (DSC1), desmocollin 2 (DSC2), desmocollin 3 (DSC 3), and plakophilin 1 (PKP 1), and decreased expression of desmoplakin 1 (DP 1) and plakoglobin (PG). In conventional well to moderately differentiated SCC, the expression of desmosomal proteins was decreased, but membranous staining was mostly preserved with patterns similar to normal epidermis. Our results suggest that loss of desmosomal cadherins and decreased expression of desmosomal plaque proteins might be responsible for the formation of gland-like structures in ASCC. It seems that desmosomal cadherins, which correspond to the transmembrane core of desmosomes, are predominantly affected in ASCC, while DP 1 and PG, which correspond to cytoplasmic plaque of desmosomes, probably play a lesser role in maintenance of tumour cell cohesion. Our results also indicate that, in addition to previously described verrucous and spindle cell carcinoma, ASCC is another subtype of SCC with a characteristic expression pattern of desmosomal proteins.

The incidence of idiopathic inflammatory myopathies in the adult Slovenian population

Idiopathic Inflammatory myopathies (IIM) are rare disorders. The aim of our study was to determine the incidence of IIM in a well-defined Slovenian region. This retrospective study was conducted at the Department of Rheumatology, University Medical Centre Ljubljana, the only secondary/tertiary rheumatology center in a region with a population of 704,342 adults. We identified potential IIM cases by searching the electronic patient records for ICD-10 codes M33, M35.1, M35.8, M60, G72, G73, and J84. We included incipient IIM cases between January 2010 and December 2017, who were at the time of the diagnosis, residents of the inspected region. To avoid under-reporting due to miscoded cases, we obtained a list of the patients who had histological patterns consistent with IIM on muscle biopsy from the Institute of Pathology. The annual incidence rate for IIM was calculated. During the eight-year observation period, we identified 65 IIM cases (72.3% female, median (IQR) patient age 64.8 (54.8–73.2) years). The estimated annual incidence of IIM in the studied population was 11.5 (95% CI 9.0–14.6) per 106 adults, in females 16.2 (95% CI 12.1–21.4), and in males 6.6 (95% CI 4.0–10.2) per 106 adults. The incidence rate of IIM in Slovenia is consistent with data from the literature.

Nephrology image/primary localized amyloidosis of the ureter

A 67-year-old woman with a history of recurrent urinary tract infections was admitted for investigation of intermittent gross hematuria and left flank pain. All blood tests were normal. Urinalysis revealed hematuria. Urine cultures were negative. Cystoscopy was unremarkable. Urine cytology was inconclusive; there were small clusters of urothelial cells showing mild atypia. Retrograde pyelography (Figure 1) and computed tomography urography were performed, showing hydroureteronephrosis above a tumor-like narrowing in the lower part of the ureter. A diagnosis of ureteral malignancy was made. She underwent left laparoscopic nephrectomy. Microscopic examination revealed chronic ureteritis and extensive deposition of red-orange amyloid deposits in Congo red staining (Figure 2) that displayed typical yellow-green birefringence under polarized light. Immunohistochemistry was positive for lambda light chains. Immunoelectrophoresis of serum and urine, Bence-Jones’s protein test, levels of immunoglobulins, and light chains were all normal. http://www.kidney-international.org n e p h r o l o g y i m a g e

Nephrology ImageNephrology image/primary localized amyloidosis of the ureter

A 67-year-old woman with a history of recurrent urinary tract infections was admitted for investigation of intermittent gross hematuria and left flank pain. All blood tests were normal. Urinalysis revealed hematuria. Urine cultures were negative. Cystoscopy was unremarkable. Urine cytology was inconclusive; there were small clusters of urothelial cells showing mild atypia. Retrograde pyelography (Figure 1) and computed tomography urography were performed, showing hydroureteronephrosis above a tumor-like narrowing in the lower part of the ureter. A diagnosis of ureteral malignancy was made. She underwent left laparoscopic nephrectomy. Microscopic examination revealed chronic ureteritis and extensive deposition of red-orange amyloid deposits in Congo red staining (Figure 2) that displayed typical yellow-green birefringence under polarized light. Immunohistochemistry was positive for lambda light chains. Immunoelectrophoresis of serum and urine, Bence-Jones’s protein test, levels of immunoglobulins, and light chains were all normal. http://www.kidney-international.org n e p h r o l o g y i m a g e