Clinical features of patients at presentation and follow up
| Case | Sex | Age1-150(weeks) | CF mutation | Presentation | Follow up (months) | Follow up | Clinical condition/remarks | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MI | J | HA | H | S | CS | FTT | CLD | FTT | H | S | ||||||
| 1 | M | 5 | NI | − | Y | − | ++ | + | Y | − | 12 | − | − | ++ | ++ | Well |
| 2 | M | 6 | ΔF508/ΔF508 | − | Y | − | ++ | − | − | − | 27 | ++ | − | + | − | Well |
| 3 | M | 12 | ΔF508/NI | − | − | Y | − | − | Y | Y | 24 | + | − | − | − | Well |
| 4 | F | 6 | ΔF508/ΔF508 | Y | Y | − | ++ | + | − | − | 13 | + | − | ++ | + | Well |
| 5 | M | 6 | ΔF508/NI | − | Y | − | + | − | Y | Y | 184 | + | + | + | − | Delayed puberty |
| 6 | M | 8 | ΔF508/ΔF508 | − | Y | − | − | − | − | − | 205 | − | − | − | − | Well |
| 7 | M | 5 | ΔF508/G542X | − | Y | − | + | − | Y | Y | 155 | +++ | − | + | − | Glucose intolerance |
| 8 | F | 7 | ΔF508/ΔF508 | Y | Y | − | +++ | − | Y | − | 178 | ++ | − | + | − | Well |
| 9 | F | 8 | Not tested | − | Y | − | +++ | − | Y | − | 106 | ++ | − | − | − | Well |
| 10 | M | 8 | ΔF508/ΔF508 | − | Y | − | + | − | − | Y | 37 | + | − | + | − | MRSA positive |
| 11 | F | 5 | ΔF508/ΔF508 | − | Y | − | + | − | Y | Y | 47 | + | − | − | − | Well |
| 121-151 | M | 7 | ΔF508/ΔF508 | Y | Y | − | ++ | + | Y | − | 10 | +++ | − | ++ | ++ | α1ATD/OLT |
↵1-150 At presentation.
↵1-151 Patient excluded from follow up analysis after orthotopic liver transplantation (OLT).
NI, not identified; MI, meconium ileus; J, jaundice; HA, hypoalbuminaemia; H, hepatomegaly; S, splenomegaly; CS, chest symptoms; FTT, failure to thrive; CLD, chronic lung disease; MRSA, methicillin resistant Staphylococcus aureus;α1 ATD, α1 antitrypsin deficiency.
Y, present; −, absent; +, mild; ++, moderate; +++, severe.