Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

Table 4 Diagnostic and clinical features of 7 cases with the ‘Greek-Cypriot’ p.Leu346Pro (L346P) mutation in compound heterozygosity

Features	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7
Diagnosis	CF	CF	CF	CF	CF	CF	CFTR-RD
Gender	Male	Female	Male	Female	Male	Female	Female
Age (years)	19.7	21	24.3	27.8	32.2	48.5	72.9
Age at diagnosis (years)	0	0.5	1	0.4	5.7	25.2	47.7
Other CFTR mutation	p.Phe508del	p.Phe508del	p.Phe508del	p.Tyr515X	p.Phe508del	CFTRdele2,3	p.Met348Lys
Sweat chloride (mmol/L)^a	75	106	80	103.5	66.5	86	19
Clinical presentation	PS	RS; EI	EI; FTT	EI; FTT; GS	EI; FTT; GS	RS; FTT	FH
Digital clubbing	No	ND	No	ND	Yes	ND	ND
BMI z-score^b	− 0.2	0.1	1.2	ND	− 0.2	ND	ND
FEV₁ z-score^c	− 0.9	− 2.4	− 0.2	ND	− 4.6	ND	ND
Pancreatic insufficiency^d	Yes	ND	No	ND	Yes	ND	ND
Chronic P. aeruginosa col.^e	ND	ND	ND	ND	Yes	ND	ND
Bronchiectasis^f	Moderate	ND	No	Moderate	Severe	ND	ND

^aMean value (mmol/L) of all performed sweat chloride tests
^bBMI z-score measured on date of best FEV₁ z-score measurement in follow-up year
^cBest FEV₁ z-score measured in follow-up year
^dPancreatic insufficiency defined as pancreatic enzyme supplementation requirement
^eChronic pulmonary colonization with Pseudomonas aeruginosa defined according to modified Leeds criteria
^fBronchiectasis revealed by chest CT scan. CFTR-RD CFTR-related disease, PS prenatal screening, RS respiratory symptoms, EI electrolyte imbalance, FTT failure to thrive, GS gastrointestinal symptoms, FH family history, ND not defined

ISSN: 1750-1172