case_images: PMC10340117_01
case_images: Radiological alterations during the patient's hospitalization. (A) B-ultrasound showed a small amount of abdominal effusion. (B) Abdominal computed tomography (CT) showed that the kidney, liver and spleen increased in volume with a low-density image. (C,E) Chest CT displayed both lung pneumonia and partial atelectasis of the upper lobe of the right lung. (D) Head CT showed that the subarachnoid hemorrhage during the 6th week of his hospital stay. (F) Head CT showed that the subarachnoid hemorrhage was more extensive during the 8th week of his hospital stay.
case_images: fped-11-1162974-g001.jpg
case_images: PMC10340117_01_fped-11-1162974-g001.jpg
case_images: F1
case_images: B-ultrasound showed a small amount of abdominal effusion (Figure 1A). Abdominal computed tomography (CT) showed that the kidney, liver and spleen increased in volume with a low-density image (Figure 1B). Subsequently, the patient developed a hypertensive emergency with features of intracranial hypertension leading to right temporoparietal hematoma and subarachnoid hemorrhage, as depicted in Figure 1D. Chest CT displayed both lung pneumonia and partial atelectasis of the upper lobe of the right lung (Figures 1C,E). Head CT showed that the subarachnoid hemorrhage was more extensive than before (Figure 1F).
case_images: Timeline of clinical course and laboratory data during episodes of aHUS and management. The y-axis on the left shows platelets and hemoglobin levels and the y-axis on the right shows creatinine levels. The yellow upward arrow represents platelet infusion. CRRT, continuous renal replacement therapy; HD, hemodialysis; PE, plasma exchange; PIs, plasma infusions; RBC, red blood cell.
case_images: fped-11-1162974-g002.jpg
case_images: PMC10340117_01_fped-11-1162974-g002.jpg
case_images: F2
case_images: The patient's renal function and hematologic parameters (stage 3 AKI with gross hematuria) worsened during the 6th-7th week of the hospital stay while HD and PI therapy was continued, as depicted in Figure 2.
case_images: Identification of heterozygous DGKE variants in a family with atypical hemolytic uremic syndrome. (A) Family history. Index case developed first symptoms of aHUS at 7 months. Squares represent males, and circles represent females. White symbols represent unaffected individuals, white symbols combined with black spots represent individuals with heterozygous deletion variation in the region of exon 4-6 of the DGKE gene. Filled black symbols represent affected individuals with the insert variant of c.610dup, p.Thr204Asnfs*4 and heterozygous deletion variation in the region of exon 4-6 of the DGKE gene. (B-E) Sanger sequencing chromatograms of variants in the DGKE gene from the affected patient and his parents. Capital letters represent the exon sequences. The affected individual harbored a compound heterozygous variant of the DGKE gene for the c.610dupA; his unaffected parents and brother showed no variant. The arrow indicated the presence of insertional variants. (F,G) Heterozygous deletion variant was identified in the 4-6 exon region of the gene.
case_images: fped-11-1162974-g003.jpg
case_images: PMC10340117_01_fped-11-1162974-g003.jpg
case_images: F3
case_images: The first variant was classified as de novo compared with the results obtained in the conventional in the Sanger sequencing of the parents and the older brother (Figures 3A-E). The second variant was a deletion of DGKE exons 4-6, which was also detected in the asymptomatic father, but absent in both the mother and the older brother (Figures 3F,G).