Figure 2

Specific US abnormalities identified in the Jena University CF cohort. (A) Pancreatic cystosis in an asymptomatic 41-year-old female patient heterozygous for G551D showing a hyperechoic pancreas (Pa) containing multiple cysts (Cy) with sizes approximately of 21 × 34 × 20 mm and 21 × 40 × 24 mm. CFAbd-Score: 82 (*range: highest burden of symptoms [0 points] to no symptoms [100 points], respectively). (B) Hyperechoic pancreas (Pa) with fat replacement as typical for pancreatic lipomatosis in a 10-year-old female patient homozygous for F508del with pancreatic insufficiency (symptom score: 95). (C) Longitudinal US image of the bowel wall in the terminal ileum measuring approximately 5 mm in a context of thickened bowel wall in a 19-year-old patient homozygous for F508del (symptom score: 81). (D) Transversal section of the small bowel showing the classic target sign appearance of intussusception in a 3-year-old female asymptomatic patient homozygous for F508del (symptom score: 96). (E) Free fluid (FF) in the right lower quadrant in a 32-year-old male patient homozygous for F508del with severe liver disease (symptom score: 80). (F) Single gallstone in a 12-year-old male asymptomatic patient heterozygous for G551D (symptom score: 100). (G) Gallbladder (arrow) in a 11-year-old female patient heterozygous for G551D measuring 18 × 4 mm in a context of micro-gallbladder (symptom score: 88). (H) US image of liver steatosis in a 4-year-old male patient homozygous for F508del, showing diffused increased echogenicity of the right lobe of the liver (Li) relative to right kidney cortex (Ki) (symptom score: 85). I) Severe periportal fibrosis (arrow) in a 28-year-old male patient heterozygous for F508del/R347P with cystic fibrosis liver disease (CFLD) (symptom score: 87). (J) Isoechoic pancreas (Pa) relative to liver in a 18 year-old female patient heterozygous for G551D with pancreatic sufficiency (PS) in longitudinal sonogram at level of the pancreatic head (symptom score: 99). (K) US scan of the appendix (Ap) in a 10-year-old asymptomatic female patient homozygous for F508del. Note the thickened aspect of the appendix (diameter of 9 mm) (symptom score: 95). (L) Enlarged mesenteric lymph nodes (LN) greater than 18 mm in the larger axis in a 10-year-old asymptomatic patient homozygous for F508del, in a context of an inflammatory etiology (symptom score: 95).