Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism

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dc.contributor.author Sivunen, Johanna
dc.contributor.author Piirila, Paivi
dc.contributor.author Karlberg, Susann
dc.contributor.author Kajosaari, Merja
dc.contributor.author Valmari, Pekka
dc.contributor.author Kupari, Markku
dc.contributor.author Lipsanen-Nyman, Marita
dc.contributor.author Jalanko, Hannu
dc.contributor.author Sovijarvi, Anssi R. A.
dc.date.accessioned 2020-09-29T21:40:58Z
dc.date.available 2020-09-29T21:40:58Z
dc.date.issued 2020-01
dc.identifier.citation Sivunen , J , Piirila , P , Karlberg , S , Kajosaari , M , Valmari , P , Kupari , M , Lipsanen-Nyman , M , Jalanko , H & Sovijarvi , A R A 2020 , ' Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism ' , Pediatric Pulmonology , vol. 55 , no. 1 , pp. 122-129 . https://doi.org/10.1002/ppul.24518
dc.identifier.other PURE: 127085609
dc.identifier.other PURE UUID: a765cd26-f4da-44ac-bd9b-834c94a77007
dc.identifier.other WOS: 000485583700001
dc.identifier.other ORCID: /0000-0003-4959-2310/work/62632018
dc.identifier.other ORCID: /0000-0002-2625-2965/work/62632328
dc.identifier.other ORCID: /0000-0002-2535-4409/work/62633043
dc.identifier.uri http://hdl.handle.net/10138/319700
dc.description.abstract 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. en
dc.format.extent 8
dc.language.iso eng
dc.relation.ispartof Pediatric Pulmonology
dc.rights unspecified
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject lung function
dc.subject MUL
dc.subject TRIM37
dc.subject NATRIURETIC PEPTIDE
dc.subject FUNCTION TESTS
dc.subject HEART-FAILURE
dc.subject LEG LENGTH
dc.subject CHILDREN
dc.subject NONSMOKING
dc.subject DIAGNOSIS
dc.subject CAPACITY
dc.subject HEIGHT
dc.subject BNP
dc.subject 3123 Gynaecology and paediatrics
dc.subject 3121 General medicine, internal medicine and other clinical medicine
dc.title Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism en
dc.type Article
dc.contributor.organization Children's Hospital
dc.contributor.organization Clinicum
dc.contributor.organization Lastentautien yksikkö
dc.contributor.organization HUS Children and Adolescents
dc.contributor.organization Helsinki University Hospital Area
dc.contributor.organization HUS Medical Imaging Center
dc.contributor.organization Department of Diagnostics and Therapeutics
dc.contributor.organization HUS Heart and Lung Center
dc.contributor.organization Department of Medicine
dc.contributor.organization Kardiologian yksikkö
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1002/ppul.24518
dc.relation.issn 8755-6863
dc.rights.accesslevel openAccess
dc.type.version publishedVersion
dc.identifier.url https://rdcu.be/bSz3z

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