Neutrophil-to-lymphocyte ratio: a biomarker for predicting systemic involvement in adult IgA vasculitis patients.

BACKGROUND: IgA vasculitis (IgAV) is a small-vessel leucocytoclastic cutaneous vasculitis, often associated with kidney and gastrointestinal (GI) manifestations. Although predictive factors for systemic involvement have been extensively studied in children, there is paucity in the literature regarding adult patients. Neutrophil-to-lymphocyte ratio (NLR) is an inflammatory marker, used to assess systemic inflammation in various diseases. OBJECTIVE: We sought to evaluate whether NLR can be used for predicting renal and GI involvement in adult IgA vasculitis patients. METHODS: This was a retrospective review of adult patients who were diagnosed with IgAV at our institution between 2004 and 2016. RESULTS: A total of 40 patients met our inclusion criteria. Half of the enrolled patients had clinical symptoms suggestive of systemic involvement, of which 6 (15%) had only renal, 3 (7.5%) had only GI and 11 (27.5%) had both renal and GI involvement. Pretreatment NLR was significantly associated with renal and/or GI manifestations of the disease (P < 0.001). The optimal cut-off value of NLR, for predicting systemic involvement was 3.34, with a specificity of 95% and a sensitivity of 85%. In addition, pretreatment NLR was also found to be significantly correlated with the severity of the systemic manifestations of IgAV (P = 0.022). CONCLUSION: This study suggests that NLR is a potential indicator for prognosticating systemic involvement in adult IgAV.

Novel mutation in OTC gene causes neonatal death in twin brothers.

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. OTC locus is located in the short arm of X-chromosome. Authors report a case of a woman who gave birth to monozygotic male twins who later died because of severe neonatal-onset hyperammonaemic encephalopathy caused by a novel mutation of OTC gene. Post-mortem liver biopsy was taken from the second twin; afterwards, blood was drawn from the mother for examination. DNA sequence data showed that the mother was a carrier of the same novel mutation that was previously detected in the case of her son. In OTC deficiency, detection of female carriers is important for genetic counselling and eventual prenatal diagnosis.