Reversible airway obstruction in children with ataxia telangiectasia.
BACKGROUND
Lung disease is a significant cause of the short life span of ataxia telangiectasia (A-T) patients. Objective lung function measurements are difficult to achieve in A-T.


OBJECTIVE
To assess lung function by spirometry in relation to the clinical characteristics of A-T patients followed up at the Israeli Ataxia Telangiectasia National Clinic.


METHODS
Medical and spirometry data were collected from 27 A-T patients during 2004-2007. Laboratory, nutritional condition, mode of treatment, pulmonary status, and malignancies were assessed. The spirometry values FVC, FEV(1), FEV(0.5), FEF(25-75), PEF and time rise to peak flow were analyzed individually and values were compared to those of healthy age-matched children.


RESULTS
Eleven patients (40.7%) were found to suffer from asthma according to clinical symptoms and response to bronchodilators. We found significant reduction in FEV(1) and FEV(0.5) (z-scores: -0.84 + or - 0.7 SD, -0.7 + or - 0.6 SD; P = 0.0014 and P = 0.003, respectively), in relation to healthy predicted values. FEF(25-75) was significantly lower than that in healthy children in 5 of 11 asthmatic patients. All 27 patients showed higher than healthy FEV(1)/FVC and FEV(0.5)/FVC ratios (z-scores 0.68 + or - 0.99 SD, P < 0.0015, and 2.12 + or - 1.50 SD, P < 0.0015, respectively). The rise time to peak flow was three-fold longer than that of healthy children.


CONCLUSIONS
Obstructive lung disease is common among A-T patients. Maximal peak flow reduction and prolonged rise time to peak flow may be the first signs of pulmonary involvement in these patients. Early treatment with anti-asthma therapy, bronchodilators, and steroids, may prevent further pulmonary deterioration and improve the prognosis of A-T patients.
Berkun
Yackov
Y
Ataxia Telangiectasia National Clinic, Chaim Sheba Medical Center, Tel Hashomer, affiliated with the Sackler Medical School, Tel-Aviv University, Israel.
Vilozni
Daphna
D
Levi
Yonit
Y
Borik
Sheron
S
Waldman
Dalia
D
Somech
Raz
R
Nissenkorn
Andreea
A
Efrati
Ori
O
D000280:Administration, Inhalation; D000293:Adolescent; D018927:Anti-Asthmatic Agents / Q000008:administration & dosage; D001249:Asthma / Q000150:complications / Q000188:drug therapy; D001260:Ataxia Telangiectasia / Q000150:complications*; D001993:Bronchodilator Agents / Q000008:administration & dosage*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D008297:Male; D029424:Pulmonary Disease, Chronic Obstructive / Q000188:drug therapy* / Q000209:etiology* / Q000503:physiopathology; D013147:Spirometry; D014797:Vital Capacity; D055815:Young Adult
D018927:Anti-Asthmatic Agents; D001993:Bronchodilator Agents