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BackgroundAtypical hemolytic uremic syndrome (aHUS) with diacylglycerol kinase epsilon (DGKE) gene variant is a rare variant of thrombotic microangiopathy (TMA). The information on the clinical features, management and long-term outcomes of DGKE-aHUS patients have not yet been fully elucidated. The aim of this study was to report a novel variant of the DGKE gene in a Chinese population with aHUS.Case presentationThe present work reports a 7-month-old boy with aHUS, possibly triggered by gastrointestinal infection, without complement activation, with little response to plasma therapy and nephroprotective measures. The patient died during the 8th week of his hospital stay. The causes of death were intracranial hemorrhage and multiorgan dysfunction. Comprehensive WES of peripheral blood-derived DNA revealed two heterozygous variations in the DGKE exon region: NM_003647.2, c.610dup, p.Thr204Asnfs*4 and deletion of exons 4–6.ConclusionsThis case suggest that atypical HUS with DGKE gene variant has a poor prognosis with a high mortality rate, which typically manifests in the first year of life and presents as a systemic disease with early-onset HUS with rapidly worsening renal function and chronic proteinuria. There is no specific treatment for DGKE-aHUS. There have an uncertain benefit of plasma therapy for DGKE-aHUS patients. The literature demonstrated that anti-complement therapy showed benefits for DGKE-aHUS with complement activation and autoantibodies during the overt TMA presentation but did not prevent TMA relapses. Early diagnosis and treatment may prevent complications and improve prognosis.

Objective: To identify postnatal risk factors for bronchopulmonary dysplasia (BPD) development in preterm infants with gestational age ≤32 weeks.Methods: Seventy-two preterm infants(30 with BPD and 42 non-BPD controls) admitted in the neonatal intensive care unit (NICU) of the Children's Hospital of Soochow University during 2017 were enrolled in this prospective longitudinal study. Perinatal clinical data, a neonatal critical illness score (NCIS), different soluble B7-H3(sB7-H3), and interleukin-18 (IL-18) levels by days after birth were collected. An early predictive model for BPD development was established based on clinical data using multiple logistic regression analysis. And the sensitivity and specificity of the model were assesed by ROC curve.Results: Electrolyte disturbances, hemodynamically significant patent ductus arteriosus (hs-PDA), and the age that infants achieved 120 kcal/kg.d via enteral feeding ≥40 days after birth were found to be associated with the BPD pathogenesis. Serum sB7-H3, IL-18, and NCIS were significantly higher in the BPD group compared to the non-BPD group (p < 0.05). BPD group had significantly lower enteral fluid and caloric intake compared to the non-BPD group at 1, 7, 14, and 28 days after birth. The risk factors were analyzed by multiple logistic regression and a predictive model of a combination of sB7-H3 (day 7), IL-18 (day 14), NCIS, and clinical risk factors was evaluated via ROC curve with an area under the curve (AUC) of 0.960 having sensitivity of 86.7% and a specificity of 97.6%, respectively.Conclusion: The causes of BPD are multifactorial postnatal risk factors. And the combination of sB7-H3 (day 7), IL-18 (day 14), NCIS, and clinical risk factors (electrolyte disturbances, hs-PDA, and the age that infants achieved 120 kcal/kg.d via enteral feeding ≥40 days after birth) might be served as an optimal predictive model for the occurrence of BPD.

Purpose: To explore the lung function of bronchopulmonary dysplasia (BPD) in premature infants to guide clinical prevention, early diagnosis and treatment.Methods: Thirty infants with BPD at 4–36 months of corrected gestational age were enrolled and divided into mild BPD and moderate and severe BPD groups. Thirty full-term healthy infants, and 30 non-BPD infants at 4–36 months of corrected gestational age were included as controls. Clinical information, including respiratory infections and re-hospitalization, was compared among these groups. Furthermore, lung function analysis was performed in the infants.Results: The upper respiratory tract infection rate and re-hospitalization rate were significantly higher in the infants with BPD than in the non-BPD infants. The tidal volume/kg, proportion of time to reach peak tidal expiratory flow/total expiratory time, tidal volume exhaled at peak tidal expiratory flow/total tidal volume in BPD group were significantly lower in the BPD group than those in non-BPD group. These values gradually decreased as the severity of BPD increased. The respiratory rate (RR) in BPD group was significantly higher than that in non-BPD group. As the severity of the BPD increased, slope of the descending branch of expiration of tidal breathing flow capacity ring (TBFVL) increased.Conclusion: There is a correlation between the severity of BPD and a poor prognosis of respiratory system. TBFVL can directly reflect the characteristics of Tidal Pulmonary Function in children with different degrees of BPD.