Table 1.

Genetic and extrarenal features in 13 adult patients with CF and renal involvementa

Patient/GenderAge at Diagnosis of CFPresenting SymptomsCFTR MutationsExtrarenal Manifestations at Kidney Biopsy
Respiratory Status (FEV1/FVC; %)LiverPancreas
ExocrineEndocrine
1/M6 moDigestiveF508del/F508del48/72+
2/M12 moBronchitisF508del/F508del25/35HSM+
3/M4 moBronchitisF508del /2143delΤ14/36++
4/M18 moDigestiveF508del/F508del23/40++
5/F49 yrBronchitisF508del/Y1032CNA+
6/F33 yrBronchitisG542X/3849+10kbC→TNA
7/M4 yrBronchitisF508del/F508del22/41HM++
8/M13 yrBronchitisF508del/F508del25/49++
9/F12 yrBronchitisNA17/28+
10/MBirthBronchitis/digestiveF508del/1717−1G→A25/47BC+
11/M9 yrDigestiveNANABC+
12/MBirthDigestiveF508del/2789+5G→A35/54++
13/F5 moBronchitisF508del/F508del33/29++
  • 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.