Clinicopathological characteristics of pediatric ANCA-associated glomerulonephritis.

BACKGROUND: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis and glomerulonephritis is uncommon in children. We sought to characterize the histological and clinical features of the disease and report on risk factors for adverse outcomes in a pediatric cohort. METHODS: Retrospective single-center cohort of all pediatric (< 20 years) patients diagnosed with ANCA-associated glomerulonephritis (AAGN) by kidney biopsy between 2002 and 2022 at Johns Hopkins University. Histological and clinical features were extracted from the medical record. Clinical, laboratory, and histological findings were analyzed to determine the association with kidney failure (KF) and/or death. RESULTS: A total of 17 patients were identified (GPA n = 7, MPA = 10) with a median age of 15 years (IQR 12-17) at presentation, a slight female predominance (59%), with seven patients reaching the composite outcome of death (n = 1) or kidney failure (n = 6). There was no difference in presenting clinical symptoms or extra-renal manifestations between the two groups. Univariable Cox regression identified several factors associated with an increased hazard of endpoint including the degree of global or segmental sclerosis, interstitial fibrosis and tubular atrophy (IFTA), C3 and C1q staining, presence of subendothelial deposits, and proteinuria. Multivariable regression was not performed due to the small sample size. We saw a trend towards increased utilization of plasma exchange and a decrease in cyclophosphamide utilization in the more recent era. There was no association between treatment modality and outcome. CONCLUSIONS: Pediatric AAGN is a rare disease associated with significant morbidity. We identified glomerulosclerosis and IFTA on histology, and proteinuria on initial presentation as risk factors for KF/death.

Orbital MRI versus fundus photography in the diagnosis of optic nerve hypoplasia and prediction of vision.

INTRODUCTION: In patients with optic nerve hypoplasia (ONH), the visualisation of the optic disc can be challenging and the definitive diagnosis difficult to ascertain without fundus photography. The use of MRI for diagnosis has been reported as a diagnostic alternative with conflicting results. We retrospectively analysed a disease registry to determine the reliability of orbital MRI measurements of the optic nerve diameter to diagnose ONH, and the correlation with vision outcomes. MATERIALS AND METHODS: From a cohort of 140 patients with ONH (13% unilateral) that had reached age 5 years, we identified 43 subjects who had orbital MRI in addition to fundus photography performed prior to 2 years of age. We compared measurements of the optic nerve diameter from orbital MRI scans to the standard relative optic disc size (disc diameter/disc-macula (DD/DM) distance) by fundus photography. All patients had visual acuity tested at age 5 years. Spearman's correlation coefficient was used to determine the correlation of orbital MRI measurements and fundus photography with the diagnosis of ONH, and with vision outcomes. RESULTS: Relative disc size (DD/DM)<0.35 showed 100% sensitivity and 100% specificity for the diagnostic confirmation of ONH. The optic nerve diameter measurements by orbital MRI displayed a moderate correlation (rs=0.471; p<0.001) with DD/DM and moderate sensitivity for the diagnosis of ONH. Final visual acuity correlated well with DD/DM measurements by fundus photography (rs=-0.869; p<0.001) and moderately with optic nerve diameter by orbital MRI (rs=-0.635; p<0.001). DISCUSSION: Orbital optic nerve diameter from MRI scans has moderate reliability in diagnosing ONH and predicting vision outcomes. Fundus photography for measurements of the optic nerve size should remain the reference for diagnostic confirmation of ONH. These data further support the prognostic value of fundus photography for eventual vision outcomes in this population.

Strabismus in patients with cortical visual impairment: outcomes of surgery and observations of spontaneous resolution.

PURPOSE: To investigate the rate of spontaneous resolution of strabismus in patients with cortical visual impairment (CVI) at a single center over a 10-year period and to evaluate the success rate of strabismus surgery. METHODS: The medical records of patients with CVI and strabismus seen between October 2003 and October 2013 were reviewed retrospectively. Patients were classified into 4 outcome groups: (1) those who experienced spontaneous resolution of strabismus, (2) those with persistent strabismus who did not undergo surgery, (3) those who achieved postoperative alignment of ≤10(Δ); and (4) those whose final postoperative alignment was 11(Δ)-25(Δ) or >25(Δ). RESULTS: A total of 70 patients were included. Of these, 11 patients (16%) experienced spontaneous resolution of strabismus, 27 (38%) were observed without receiving surgery, and 32 (46%) underwent strabismus surgery. Of these 32, 18 (56%) achieved alignment of ≤10(Δ); 9 (28%), alignment of 11(Δ)-25(Δ); and 5 (16%), alignment >25(Δ). The patients who did not undergo surgery were significantly older at presentation (36 months vs 12-15 months; P = 0.03); otherwise, there were no significant differences between groups in age at surgery or spontaneous resolution, type of strabismus, or underlying cause of CVI. CONCLUSIONS: In our study cohort, a minority of patients with CVI and strabismus (16%) experienced spontaneous resolution of strabismus. Only 16% of patients undergoing surgery had poor final alignment (>25(Δ)). Strabismus surgery can be reasonably successful in properly selected patients with CVI and strabismus. These patients show considerable rates of resolution of their strabismus, either spontaneously or through surgery.