A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis

Lucarelli, Marco; Bruno, Sabina Maria; Pierandrei, Silvia; Ferraguti, Giampiero; Stamato, Antonella; Narzi, Fabiana; Amato, Annalisa; Cimino, Giuseppe; Bertasi, Serenella; Quattrucci, Serena; Strom, Roberto

doi:10.2119/molmed.2014.00229

Molecular Medicine

Table 3 Genetic, biochemical, microbiological and clinical characterization of the patients with the 11 novel mutations found: clinical, pulmonary and microbiological characteristics of patients, upon enrollment and at follow-up.

From: A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis

	Upon enrollment (without therapy)					At follow-up (with therapy whenever necessary)
			Respiratory manifestations		Pulmonary			Respiratory manifestations		Pulmonary
Patient	Age	Clinical symptoms	By FEV1	By Rx	bacterial isolates	Age	Clinical symptoms	By FEV1	By Rx	bacterial isolates
1	1.5 years	Diarrhea	Too young	Mild	Absent	37 years	Bronchopneumonias	Mild	Severe	P. aeruginosa (CC), S. aureus(CC)
2	2 months	Absent	Too young	Absent	Absent	5 years	Absent	Too young	Severe	Absent
3	32 years	Bronchopneumonia	Severe	Severe	P. aeruginosa, atypical mycobacteria	39 years	Bronchopneumonias	Severe	Severe	P. aeruginosa (CC), atypical mycobacteria (CC)
4	3 months	Meconium ileus	Too young	Absent	Absent	33 years^a	Liver disease, cholelithiasis	Severe	Severe	P. aeruginosa (CC)
5	At birth	Meconium ileus	Too young	Absent	Absent	3 years	Cholelithiasis	Too young	Mild	P. aeruginosa (IC), S. aureus (IC)
6^b	33 years	Bronchopneumonias, ABPA	Absent	Moderate	S. aureus	48 years	Bronchopneumonias, ABPA	Absent	Moderate	P. aeruginosa (IC), S. aureus(CC)
7^b	32 years	Dehydratation, bronchopneumonia, bronchitis, pharyngitis	Absent	Absent	Absent	41 years	Absent	Absent	Absent	P. aeruginosa (IC), S. aureus (IC)
8	33 years	Pancreatitis, cholelithiasis	Absent	Mild	Absent	45 years	Absent (after cholecystectomy)	Absent	Mild	Absent
9^c	2 months	Absent	too young	Absent	Absent	11 years	Absent	Absent	Mild	S. aureus (IC)
10^c	2 months	Absent	Too young	Mild	P. aeruginosa, S. aureus	5 years	Pancreatitis, liver disease	Too young	Moderate	S. aureus (IC)
11	6 months	Absent	Too young	Absent	Absent	21 years	Rhinosinusitis, nasal polyposis	Mild	Moderate	P aeruginosa (IC), S. aureus (CC)
12^d	14 months	Bronchopneumonia	Too young	Mild	Absent	14 years	Recurrent pancreatitis, nasal polyposis	Absent	Moderate	P aeruginosa (CC), S. aureus (CC)
13	7 years	Dehydration	Absent	Mild	Absent	20 years	Recurrent dehydration	Absent	Moderate	Absent
14	33 years	Absent	Absent	Absent	Absent	35 years	Absent	Absent	Absent	Absent

CC, chronic colonization; IC, intermittent colonization; ABPA, allergic bronchopulmonary aspergillosis. Classification of pulmonary symptoms by FEV1 is as follows: absent: >90%, mild: from 70 to 90%, moderate: from 40 to 70%, severe: <40%. Classification of pulmonary symptoms by chest X-ray is as follows: absent: no radiological signs; mild: limited air trapping or peribronchial infiltration; moderate: dense areas or bronchiectasis restricted to one lobe; severe: dense areas or bronchiectasis in both hemithoraxes.
^aAge at death.
^bPatients number 6 and 7 are siblings.
^cPatients number 9 and 10 are siblings.
^dThis patient has already been partially described (see text for quotation) and is included here to show the follow-up to 14 years.

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ISSN: 1528-3658

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