Skip to main content

Table 1 Clinical manifestations and CFTR mutations for CF patients from this study

From: Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

No.SexAge at Dx (y)Age at onset (y)Weight/ Height (kg/m)BMI Nutrition statusFamily historySweat test Cl, mmol/l)Pulmonary function FEV1% pred; FEV1/FVC)Pancreatic insufficiencySudan III stainingGastrointestinal symptomsOther comorbiditiesDiagnosis before CF confirmationSputum cultureCFTR Variant 1CFTR Variant 2
cDNA nameProtein name (Legacy name)cDNA nameProtein name (Legacy name)
1F221048/1.6218.3 underweightnone113.786.4%; 80.60%noneNAchronic gastritisNPbronchiectasis; TBPAc.2909G > A bp.G970D (G970D)c.3068 T > Gp.I1023R
2F11new born39/1.517.3none164.785.9%; 74.66%nonenegativenoneABPAnonePAc.2909G > A bp.G970D (G970D)c.2997_3000delAATTp.I1000* (3129del4)
3F141243/1.6515.8 BMI < P15csister died at 7 m for unknown reason18360.5%; 62.21%PIpositivediarrheaABPAbronchiectasisMRSA,
MSSA
c.2909G > A bp.G970D (G970D)c.2909G > A bp.G970D (G970D)
4F18852/1.6219.8None19946.7%; 56.87%nonenegativediarrheaABPAnonePA, MAc.1766 + 5G > T b(1898 + 5G- > A)c.1766 + 5G > T b(1898 + 5G- > A)
5M22265/1.722.5None151.461.1%; 61.83%nonenegativenonenonepneumoniaPAc.607A > T ap.I203Fc.3635delTp.V1212Afs*16
6–1F301545/1.5618.5Sister (6–2): CF117.938.4%; 60.32%nonenegativenonesinusitis, HAnonePAc.2909G > A bp.G970D (G970D)c.2909G > A bp.G970D (G970D)
6–2F333050/1.522.2Sister (6–1): CF161.191.6%; 73.32%noneNAnonenonenoneNAc.2909G > A bp.G970D (G970D))c.2909G > A bp.G970D (G970D)
7F40.6715/1.0613.3 BMI < P5cNone80NAPINAfatty diarrheasinusitisnonePAc.325 T > G ap.Y109Dc.3196C > T bp.R1066C (R1066C)
8F181355/1.719.0None8544.6%; 56.69%nonenegativenonenonebronchiectasisPA, MSSAc.293A > G bp.Q98R (Q98R)c.2353C > T bp.R785* (R785X)
9F181152.5/1.620.5None12049.2%; 75.7%nonenegativenonesinusitis, HADPBPA, MRSAc.54-?_273 +?del (E2–3) anot detected
10F18545/1.6416.7 underweightNone218.425.9%; 56.26%noneNAnonesinusitis, HAbronchiectasisnegativec.3883_3886delATTT bp.I1295Ffs*32c.2909G > A bp.G970D (G970D)
11F160.530/1.5812.0 BMI < P3cNoneNA21.8%; 50.34%noneNANonesinusitis, NPTBPAc.2909G > Ap.G970D (G970D)c.1657C > T bp.R553* (R553X)
12M12531/1.4814.2 BMI < P3cNone21084.3%; 74.79%PIpositivelipid drops in feces, hepatomegalysinusitisbronchiectasisPAc.405_406dupACp.L136Hfs*18c.1388G > Ap.G463D
13M221477/1.7824.3None19286.1%; 88.35%nonenegativenoneCBAVD, sinusitisbronchiectasisSA, KP, PAc.2125C > T bp.R709* (R709X)c.2909G > A bp.G970D (G970D)
14M211050/1.717.3 underweightNone13346.0%; 60.25%PIpositivenoneABPA, CBAVD, sinusitisTBPA, MSSAc.2547C > A bp.Y849* (Y849X)c.2909G > A bp.G970D (G970D)
15F201254/1.718.7None6358.3%; 61.37%nonenegativenonesinusitis, HADPBPAc.3196C > Ap.R1066S (R1066S)not detected
16F16550/1.717.3sister: repeated pulmonary infection and died at 1015484.7%; 80.91%nonenegativenoneABPA, sinusitisbronchopneumoniaPAc.1679 + 2 T > Cc.2658-1G > C b(2790-1G- > C)
17F221445/1.5818.0none8193.6%; 88.36%noneNAnoneABPAbronchiectasisnegativec.293A > G bp.Q98R (Q98R)c.293A > G bp.Q98R (Q98R)
18M18642.5/1.714.7 underweightnone9926.2%; 55.40%suspected PINAabdominal distensionCBAVDnonePAc.595C > Tp.H199Y (H199Y)c.2909G > A bp.G970D (G970D)
19F44650/1.6219.1noneNANAnoneNAnonenonebronchiectasisPAc.1716C > A ap.D572Ec.2909G > A bp.G970D (G970D)
  1. a Novel mutations
  2. b Variants annotated as CF-causing in the CFTR2 database (http://cftr2.org) by functional tests in cell-based systems
  3. c BMI percentile for Chinese children and adolescents [9]
  4. ABPA allergic bronchopulmonary aspergillosis, BMI body mass index, CBAVD congenital absence of the vas deferens, DPB diffusive pan-bronchiolitis, Dx diagnosis, FEV1 forced expiratory volume in 1 s, FVC forced vital capacity, HA hypoalbuminemia, MA Mycobacterium avium, MSSA methicillin-sensitive Staphylococcus aureus; MRSA methicillin-resistant Staphylococcus aureus; NA not available, NP Nasal polyp; PA Pseudomonas aeruginosa; PI pancreatic insufficiency; KP Klebsiella pneumoniae; SA Staphylococcus aureus; TB tuberculosis