Table 1.
Genetic and extrarenal features in 13 adult patients with CF and renal involvementa
| Patient/Gender | Age at Diagnosis of CF | Presenting Symptoms | CFTR Mutations | Extrarenal Manifestations at Kidney Biopsy
|
|||
|---|---|---|---|---|---|---|---|
| Respiratory Status (FEV1/FVC; %) | Liver | Pancreas
|
|||||
| Exocrine | Endocrine | ||||||
| 1/M | 6 mo | Digestive | F508del/F508del | 48/72 | − | + | − |
| 2/M | 12 mo | Bronchitis | F508del/F508del | 25/35 | HSM | + | − |
| 3/M | 4 mo | Bronchitis | F508del /2143delΤ | 14/36 | − | + | + |
| 4/M | 18 mo | Digestive | F508del/F508del | 23/40 | − | + | + |
| 5/F | 49 yr | Bronchitis | F508del/Y1032C | NA | − | + | − |
| 6/F | 33 yr | Bronchitis | G542X/3849+10kbC→T | NA | − | − | − |
| 7/M | 4 yr | Bronchitis | F508del/F508del | 22/41 | HM | + | + |
| 8/M | 13 yr | Bronchitis | F508del/F508del | 25/49 | − | + | + |
| 9/F | 12 yr | Bronchitis | NA | 17/28 | − | + | − |
| 10/M | Birth | Bronchitis/digestive | F508del/1717−1G→A | 25/47 | BC | + | − |
| 11/M | 9 yr | Digestive | NA | NA | BC | + | − |
| 12/M | Birth | Digestive | F508del/2789+5G→A | 35/54 | − | + | + |
| 13/F | 5 mo | Bronchitis | F508del/F508del | 33/29 | − | + | + |
a
BC, biliary cirrhosis; CF, cystic fibrosis; FEV1, forced expiratory volume in 1 s; FVC, forced vital capacity; HM, hepatomegaly; HSM, hepatosplenomegaly; NA, not available.