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Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism
Author(s) -
Sivunen Johanna,
Piirilä Päivi,
Karlberg Susann,
Kajosaari Merja,
Valmari Pekka,
Kupari Markku,
LipsanenNyman Marita,
Jalanko Hannu,
Sovijärvi Anssi RA
Publication year - 2020
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.24518
Subject(s) - medicine , diffusing capacity , dlco , lung volumes , spirometry , vital capacity , pulmonary function testing , bronchodilatation , pulmonary diffusing capacity , plethysmograph , functional residual capacity , airway obstruction , airway resistance , asthma , cardiology , lung , anesthesia , airway , bronchodilator , lung function
Background Mulibrey nanism (MUL) is a rare growth restriction disorder with multiple organ manifestations caused by genetic defects affecting the TRIM37 protein. A perimyocardial heart disease is the most serious manifestation. Many MUL children appear to suffer from airway obstruction related to infection or exercise, prompting use of inhaled therapies. Asthma medication is continued up to adolescence or even to adulthood due to persisting of symptoms. The pulmonary pathophysiology has previously not been evaluated in any MUL cohort. Methods Thirty three finnish MUL patients (median age 20 years) were investigated with several lung function tests: spirometry with bronchodilatation test, single‐breath diffusing capacity for carbon monoxide, single‐breath lung volume measurements with helium dilution, and thoracic gas volume, airway resistance and specific conductance measurements with a body plethysmograph. As MUL typically affects body proportions, all variables were compared with reference values and with predicted values calculated from sitting height. Results Total lung capacity and forced vital capacity were markedly reduced (total lung capacity [TLC] and forced vital capacity [FVC], P < .001, 51%‐63% of predicted) and also forced expiratory volume in the first second was reduced (FEV1; P < .001, 47%‐57%). No signs of airway obstruction was seen (normal FEV1/FVC and specific airway conductance SGaw). Diffusing capacity (DLCO) was decreased ( P < .001, 60%‐67%) but when related to alveolar volume it was increased (DLCO/VA, P < .001, 130%‐148%). Bronchodilatation suggesting active asthma (FEV1 change ≥12% and ≥200 mL) was found only in one patient. Conclusion MUL patients typically have volume restriction of the lungs, but function of the pulmonary tissue remains intact. Evidence of asthma in lung function testing at adult age is rare.