Immunoglobulin A vasculitis nephritis: Current understanding of pathogenesis and treatment.

The clinical spectrum of immunoglobulin A vasculitis nephritis (IgAVN) ranges from the relatively common transitory microscopic hematuria and/or low-grade proteinuria to nephritic or nephrotic syndrome, rapidly progressive glomerulonephritis, or even renal failure. Clinical and experimental studies have shown a multifactor pathogenesis: Infection triggers, impaired glycosylation of IgA1, complement activation, Toll-like-receptor activation and B cell proliferation. This knowledge can identify IgAVN patients at a greater risk for adverse outcome and increase the evidence for treatment recommendations.

Time of Onset and Risk Factors of Renal Involvement in Children with Henoch-Schönlein Purpura: Retrospective Study.

BACKGROUND: Henoch-Schönlein purpura (HSP) is a common systemic vasculitis in children, involving the skin, musculoskeletal system, gastrointestinal tract and kidneys. Some studies in children have shown possible risk factors linked with the development and severity of HSP Nephritis (HSPN). The aim of this study was to research predicting factors for the development of HSPN. METHODS: We retrospectively evaluated 132 pediatric patients with HSP, according to EULAR/PRINTO/PRESS criteria. All patients were screened for HSPN by urinalysis. Finally, we compared demographic, clinical and laboratory data in HSP patients with and without nephritis. RESULTS: The median age at HSP diagnosis [6.2 (2.6-17.5) vs. 5.5 (0.8-15.4) years, p = 0.03] and the incidence of abdominal pain (48 vs. 27%, p = 0.01) were significantly higher in HSPN patients. No differences were evidenced regarding gender, allergic diseases, skin recurrences, gastrointestinal involvement, musculoskeletal involvement, scrotal involvement, and laboratory data (white blood cell count, neutrophil count, lymphocyte count, platelet count, C-reactive protein, erythrocyte sedimentation rate, and blood concentration of IgA). CONCLUSIONS: The age at diagnosis and abdominal pain were independent risk factors for renal involvement in HSP patients. However, due to the retrospective nature of this study, further long-term and prospective studies will be necessary.

Negative effect of lockdown on juvenile idiopathic arthritis patients.

INTRODUCTION: The aim of this study is to evaluate a possible negative action of lockdown, during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, in the follow-up of juvenile idiopathic arthritis (JIA) patients. METHODS: We compared the number of JIA reactivations in the period March-July 2020 to the same months of 2018 and 2019. RESULTS: A total of 10 JIA reactivations have been documented on 58 patients (17%) visited in the period March-July 2018; 10 reactivations on 61 patients (16%) in the period March-July 2019; and 19 reactivations on 39 patients (49%) in the period March-July 2020, with a statistically significant increase (p <0.001). The other 19 patients who should have been visited during the same period, contacted by phone, indicated remission. Therefore, we hypothesize that the effective number of reactivations in the period March-July 2020 would be 19/58 patients (33%) which remains significantly greater than in the previous 2 years (p < 0.05). Among the 19 JIA patients reactivated in 2020, 3 spontaneously stopped the basic treatment due to parents' choice for fear of serious complications in case of SARS-CoV-2 infection and 4 had poor compliance with underlying treatment. In addition, 14/19 reactivated JIA patients did not perform the scheduled check according to the follow-up. In fact, the mean time interval between two follow-up visits was significantly greater in 2020 (157 ± 53 days, p < 0.0001) vs 2018 (108 ± 68 days) and 2019 (107 ± 40 days). CONCLUSIONS: We have found a significant increase in JIA reactivations in the period March-July 2020 compared to the same interval of 2018 and 2019. This increase may have been caused by poor compliance with background treatment, as documented in 7/19 JIA patients reactivated, and by a greater interval in follow-up checks. Therefore, it is necessary, in occasion of a new pandemic and lockdown, to implement greater controls using more appropriate telemedicine tools. Key Points • COVID-19 pandemic lockdown had a negative effect on the follow-up of JIA patients. • A significant increase in JIA reactivations was found during the lockdown. • Poor therapeutic compliance and follow-up checks have been proven during the lockdown. • It is necessary to improve telemedicine tools and scientific information during a pandemic and lockdown.

A novel UMOD gene mutation associated with chronic kidney failure at a young age.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) belongs to a group of renal hereditary disorders linked by common findings of tubulointerstitial disease and dominant inheritance. The renal clinical phenotype is characterized by chronic kidney disease, hyperuricemia, gout, and, inconstantly, renal cysts. Uromodulin (UMOD) gene mutations are related to the clinical phenotype of ADTKD-UMOD. We describe here a novel heterozygous mutation of UMOD (c.249C>G; p.Cys83Trp) in an affected 9-year-old boy with progressive renal impairment and hyperuricemia. His mother is also affected and received renal transplantation at the age of 31 years. We assume that this variant is likely to be the causative mutation in this family as it segregates with the disease, it is not present in the genomic databases, and it is predicted to be damaging by the principal software tools. Considering the progressive renal impairment of our proband at an early age (serum creatinine elevation at the age of 6, hyperuricemia at the age of 9) and the early age at end-stage renal disease of his mother, we hypothesize that this variant is associated with a severe clinical phenotype.

A Rare Case of Esophageal Dysphagia in Children: Aberrant Right Subclavian Artery.

Dysphagia is an impairment of swallowing that may involve any structures from the mouth to the stomach. Esophageal dysphagia presents with the sensation of food sticking, pain with swallowing, substernal pressure, or chronic heartburn. There are many causes of esophageal dysphagia, such as motility disorders and mechanical and inflammatory diseases. Infrequently dysphagia arises from extrinsic compression of the esophagus from any vascular anomaly of the aortic arch. The most common embryologic abnormality of the aortic arch is aberrant right subclavian artery, clinically known as arteria lusoria. This abnormality is usually silent. Here, we report a case of six-year-old child presenting to us with a history of progressive dysphagia without respiratory symptoms. A barium esophagogram showed an increase of the physiological esophageal narrowing at the level of aortic arch, while at esophagogastroduodenoscopy there was an extrinsic pulsatile compression of the posterior portion of the esophagus suggesting an extrinsic compression by an aberrant vessel. Angio-CT (computed tomography) scan confirmed the presence of an aberrant right subclavian artery.