Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience

Saddi, Vishal; Beggs, Sean; Bennetts, Bruce; Harrison, Joanne; Hime, Neil J.; Kapur, Nitin; Lipsett, Jill; Nogee, Lawrence M.; Phu, Amy; Suresh, Sadasivam; Schultz, André; Selvadurai, Hiran; Sherrard, Stephanie; Strachan, Roxanne; Vyas, Julian; Zurynski, Yvonne; Jaffé, Adam

doi:10.1186/s13023-017-0637-x

Cited by 41 publications

(34 citation statements)

References 25 publications

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“…[4][5][6][7] However, depending on the recruitment strategy, 8% to 27% of chILD remain of unknown etiology. 2,[8][9][10] Nearly 16% of cases appear to be familiar. 11 The chILD incidence is difficult to evaluate but the estimations provided by European studies are under 1 per 100 000 children.…”

Section: Discussionmentioning

confidence: 99%

“…Other chILD can be related to various aetiologies such as environmental or toxic exposure‐related ILD (hypersensitivity pneumonitis, medication), autoimmune diseases (connective tissue disease, or pulmonary vasculitis), metabolic disorders, and developmental disorders . However, depending on the recruitment strategy, 8% to 27% of chILD remain of unknown etiology . Nearly 16% of cases appear to be familiar .…”

Section: Introductionmentioning

confidence: 99%

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Health‐related quality of life in infants and children with interstitial lung disease

Lauby¹,

Boëlle

Taam³

et al. 2019

Pediatric Pulmonology

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Introduction Interstitial lung disease in children (chILD) is a highly heterogeneous group of rare and severe respiratory disorders. The disease by itself, the burden of the treatments (oxygen therapy, corticosteroid pulses, nutritional support) and recurrent hospitalizations may impair the quality of life (QoL) of these children. The aim of the study was to compare the health‐related QoL (HR‐QoL) in chILD compared to a healthy population and to find out the predictive factors of an altered QoL. Methods Patients aged 1 month to 18 years with ILD of known or unknown etiology were prospectively included. Parents and children over 8 years old were asked to fill the PedsQL 4.0 Generic Core Scale ranging from 0 to 100 points. Results A total of 78 children were recruited in 13 French pediatric centers. Total scores were 11.94 points (P = 0.0003) less for child self‐report and 14.08 points ( P < 0.0001) less for parent proxy‐report with respect to the healthy population. The clinical factors associated with a lower total score were: extrapulmonary expression of the disease, higher Fan severity score, long‐term oxygen therapy, nutritional support, and a number of oral treatments. Conclusion Using a validated quality of life (QoL) scale, we showed that health‐related‐QoL is significantly impaired in chILD compared with a healthy population. Factors altering QoL score are easy to recognize and could help identify children at a heightened risk of low QoL.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Health‐related quality of life in infants and children with interstitial lung disease

Lauby¹,

Boëlle

Taam³

et al. 2019

Pediatric Pulmonology

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“…In the United States, 9.6% of chILD confirmed by lung biopsy in infants younger than 2 years were diagnosed with SD . According to a national survey in Australia and New Zealand, 12.2% of chILD were SD . In France, SD accounted for 17.6% of chILD and the most common cause …”

Section: Discussionmentioning

confidence: 99%

Genetic basis of surfactant dysfunction in Chinese children: A retrospective study

Nong

Liu

et al. 2019

Pediatric Pulmonology

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Objective To investigate the prevalence of surfactant dysfunction (SD) and the genotype distribution in Chinese childhood interstitial lung disease (chILD). Methods From December 2013 to December 2016, whole exons and splicing regions of surfactant protein (SP)‐B, SP‐C, and adenosine triphosphate (ATP)‐binding cassette subfamily A member 3 (ABCA3) were sequenced in chILD with unknown etiology in five children's medical centers of China. The sequencing was performed by Next‐generation sequencing technique in a molecular genetics laboratory. The clinical and genetic data were reviewed retrospectively. Results In total, 136 patients of age 3 months to 13 years (mean 12.5 ± 9.4 months) were recruited, among which 76 were males. Of the 136 cases of chILD, 13.2% (18 of 136) were diagnosed with SD. In these 18 SD cases, 15 had heterozygous SP‐C deficiencies, two cases had compound heterozygous ABCA3 deficiencies, and no SP‐B deficiency was identified. In SP‐C deficiencies, there were six cases with p.I73T, 2 with p.I73N, 5 with p.V39L, 1 with c.417delA, and 1 case with IVS4, +1G>C. Two cases of ABCA3 mutation were heterozygous with c.1755delC and c.2890G>A; c.3913T>C (R1305W) and exon 13 to 18 deletion. One was negative by sequencing while diagnosed positive by pathology. Conclusion The proportion of genetic mutation of SD in chILD is 13.2% in China, of which SP‐C deficiency is predominant. The mutation, SP‐C p.V39L, was found to be relatively prevalent in China and warrants further investigation.

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“…Two-thirds of the patients were aged <2 years. Overall clinical outcome was good in 79% of patients; the mortality rate was 7% [17].…”

Section: Structuring Advances In Child By Consortia-run Registers Andmentioning

confidence: 92%

“…These data, together with data from the two reference genetics laboratories, were used to calculate prevalence [17]. 115 cases were identified, yielding a period prevalence of 1.5 (range 0.8-2.1) cases per million children.…”

Section: Structuring Advances In Child By Consortia-run Registers Andmentioning

confidence: 99%

Chronic interstitial lung disease in children

Griese

2018

Eur Respir Rev

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Children's interstitial lung diseases (chILD) are increasingly recognised and contain many lung developmental and genetic disorders not yet identified in adult pneumology. Worldwide, several registers have been established. The Australasian Registry Network for Orphan Lung Disease (ARNOLD) has identified problems in estimating rare disease prevalence; focusing on chILD in immunocompetent patients, a period prevalence of 1.5 cases per million children and a mortality rate of 7% were determined. The chILD-EU register highlighted the workload to be covered per patient included and provided protocols for diagnosis and initial treatment, similar to the United States chILD network. Whereas case reports may be useful for young physicians to practise writing articles, cohorts of patients can catapult progress, as demonstrated by recent studies on persistent tachypnoea of infancy, hypersensitivity pneumonitis in children and interstitial lung disease related to interferonopathies from mutations in transmembrane protein 173. Translational research has linked heterozygous mutations in the ABCA3 transporter to an increased risk of interstitial lung diseases, not only in neonates, but also in older children and adults. For surfactant dysfunction disorders in infancy and early childhood, lung transplantation was reported to be as successful as in adult patients. Mutual potentiation of paediatric and adult pneumologists is mandatory in this rapidly extending field for successful future development.

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Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience

Cited by 41 publications

References 25 publications

Health‐related quality of life in infants and children with interstitial lung disease

Health‐related quality of life in infants and children with interstitial lung disease

Genetic basis of surfactant dysfunction in Chinese children: A retrospective study

Chronic interstitial lung disease in children

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