ABCMdb

PMID: 25592785

Marson FA, Hortencio TD, Aguiar KC, Ribeiro JD
Demographic, clinical, and laboratory parameters of cystic fibrosis during the last two decades: a comparative analysis.
BMC Pulm Med. 2015 Jan 15;15:3. doi: 10.1186/1471-2466-15-3., [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCC7 p.Gly551Asp Marson et al. BMC Pulmonary Medicine 2015, 15:3 care, treatment of comorbidities, genetic counseling, dietary adaptation of pancreatic enzymes, nutritional supplements, neonatal screening by immunoreactive trypsinogen (IRT), antibiotic therapy, lung transplantation, and, more recently, personalized drug therapy [i.e., ivacaftor for G551D (rs75527207, c.1652G > A) mutation and eight other mutations approved by the US Food and Drug Administration] [11,12]. Login to comment 27 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Demographic, clinical, and laboratory markers The demographic, clinical, and laboratory variables analyzed in this study were sex (male/female), ethnicity (Caucasian or non-Caucasian), age, age range, number of deaths, clinical manifestations (respiratory and digestive), age at diagnosis, comorbidities [pancreatic insufficiency (PI), meconium ileus (MI), and diabetes mellitus (DM)], nutritional status as determined by weight and height on a growth curve (weight and height below the 10th percentile), oxygen saturation (SpO2) (>95%, 91%-95%, or <91%), sweat chloride level, microorganisms in the sputum (Staphylococcus aureus, mucoid and nonmucoid Pseudomonas aeruginosa, and Burkholderia cepacia), spirometry findings (normal, restrictive lung disease, obstructive lung disease, or mixed respiratory disorder) [14], genetic screening for the CFTR mutations [F508del (rs113993960, c.1521_ 1523delCTT), G542X (rs113993959, c.1624G > T), N1303K (rs80034486, c.3909C > G), G551D, R553X (rs74597325, c.1657C > T), and W1282X (rs77010898, c.3846G > A)], Shwachman-Kulczycki score (SKS) (excellent or good, mild, or moderate or severe) [15], and fecal fat. Login to comment 82 ABCC7 p.Gly551Asp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Older patients constitute a major proportion of the Table 1 Comparison of data (demographic, clinical, and laboratory markers) of patients with cystic fibrosis from a Brazilian referral center during the decades of 1990 to 2000 and 2000 to 2010 Demographic and clinical markers Category DI (1990-2000) DII (2000-2010) p Number of patients 104 181 Age Mean: 10 years 9 months &#b1; 6.33 months Mean :16 years 7 months &#b1; 13.16 months <0.001 Median: 9 years Median: 12 years 10 months Range: 11 months to 31 years 2 months Range: 6 months to 73 years 10 months Sex Male 53.8% 49.7% 0.539 Female 46.2% 50.3% Ethnicity Caucasian 93.3% 92.0% 0.818 NonCaucasian 6.7% 8.0% Consanguineous parents 6.2% 1.1% 0.054 Manifestation Respiratory 89.4% 91.7% 0.528 Digestive 59.6% 83.3% <0.001 Onset of symptoms Mean: 16 months Mean: 91.75 months <0.001 Median: 3 months Median: 3 months Range: 0-20 years Range: 0-60 years Age at diagnosis Mean: 4 years 2 months Mean: 2 years 10 months <0.001 Median: 2 years 4 months Median: 2 years Range: 0 to 29 years 11 months Range: 0-60 years Meconium ileus 5.8% 15.0% 0.021 Diabetes mellitus 4.8% 18.5% 0.001 Nutritional status Weight below 10th percentile 69.9% 35.71% <0.001 Height below 10th percentile 56.6% 40.82% 0.025 SpO2 >95% 59.5% 55.5% 0.713 91%-95% 32.9% 34.7% <91% 7.6% 9.8% Sweat test <60 mEq/L* 10.6% - 60-100 mEq/L 28.8% 40.51% >100 mEq/L 60.6% 59.49% Bacteria Staphylococcus aureus 80.2% 78.5% 0.880 Pseudomonas aeruginosa 76.0% 55.8% 0.001 Mucoid P. aeruginosa 53.1% 42.0% 0.085 Burkholderia cepacia 5.2% 14.4% 0.016 Mucoid and nonmucoid P. aeruginosa 51.0% 21.85% <0.001 Spirometry Normal 27.3% 34.4% <0.001 Restrictive ventilatory disorder 18.2% 48.9% Obstructive lung disorder 25.4% 14.5% Mixed respiratory disorder 29.1% 2.3% CFTR mutation F508del homozygotes 18.75% 26.5% <0.001 F508del heterozygotes 62.5% 22.7% G542X 4.17% 6.45% N1303K 2.08% 1.1% G551D 1.04% - patients seen at CF centers, and older age can be associated with variations in CF diagnosis and treatment [22]. Login to comment 89 ABCC7 p.Trp1282* ABCC7 p.Arg553* A Table 1 Comparison of data (demographic, clinical, and laboratory markers) of patients with cystic fibrosis from a Brazilian referral center during the decades of 1990 to 2000 and 2000 to 2010 (Continued) R553X 0.52% 0.3% W1282X 0.52% - Shwachman-Kulczycki score Excellent or good 57.8% 36.2% 0.005 Mild 26.5% 36.2% Moderate or severe 15.7% 27.6% Deaths 18 31 1 Fecal balance 67.9% 80.0% 0.031 DI - period from 1990 to 2000; DII - period from 2000 to 2010; SpO2 - transcutaneous hemoglobin saturation by oxygen; p - p-value. Login to comment 241 ABCC7 p.Gly551Asp Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the Gly551Asp-CFTR mutation: a phase 3, open-label extension study (PERSIST). Login to comment