Familial interstitial lung disease in two young Korean sisters.
Identifieur interne : 001E11 ( Main/Exploration ); précédent : 001E10; suivant : 001E12Familial interstitial lung disease in two young Korean sisters.
Auteurs : Hyo-Bin Kim [Corée du Sud] ; So-Yeon Lee ; Ja-Hyung Kim ; Ju-Young Jang ; Jooryung Huh ; Seong-Jong Park ; Soo-Jong HongSource :
- Journal of Korean medical science [ 1011-8934 ] ; 2005.
Descripteurs français
- KwdFr :
- Corée, Enfant d'âge préscolaire, Femelle, Fratrie, Humains, Hydroxychloroquine (administration et posologie), Méthylprednisolone (administration et posologie), Nourrisson, Pneumopathies interstitielles (anatomopathologie), Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (physiopathologie), Pneumopathies interstitielles (traitement médicamenteux), Tomodensitométrie.
- MESH :
- administration et posologie : Hydroxychloroquine, Méthylprednisolone.
- anatomopathologie : Pneumopathies interstitielles.
- génétique : Pneumopathies interstitielles.
- physiopathologie : Pneumopathies interstitielles.
- traitement médicamenteux : Pneumopathies interstitielles.
- Corée, Enfant d'âge préscolaire, Femelle, Fratrie, Humains, Nourrisson, Tomodensitométrie.
English descriptors
- KwdEn :
- Child, Preschool, Female, Humans, Hydroxychloroquine (administration & dosage), Infant, Korea, Lung Diseases, Interstitial (drug therapy), Lung Diseases, Interstitial (genetics), Lung Diseases, Interstitial (pathology), Lung Diseases, Interstitial (physiopathology), Methylprednisolone (administration & dosage), Siblings, Tomography, X-Ray Computed.
- MESH :
- chemical , administration & dosage : Hydroxychloroquine, Methylprednisolone.
- geographic : Korea.
- drug therapy : Lung Diseases, Interstitial.
- genetics : Lung Diseases, Interstitial.
- pathology : Lung Diseases, Interstitial.
- physiopathology : Lung Diseases, Interstitial.
- Child, Preschool, Female, Humans, Infant, Siblings, Tomography, X-Ray Computed.
Abstract
Most of the interstitial lung diseases are rare, chronic, progressive and fatal disorders, especially in familial form. The etiology of the majority of interstitial lung disease is still unknown. Host susceptibility, genetic and environmental factors may influence clinical expression of each disease. With familial interstitial lung diseases, mutations of surfactant protein B and surfactant protein C or other additional genetic mechanisms (e.g. mutation of the gene for ATP-binding cassette transporter A3) could be associated. We found a 21 month-old girl with respiratory symptoms, abnormal radiographic findings and abnormal open lung biopsy findings compatible with nonspecific interstitial pneumonitis that is similar to those of her older sister died from this disease. We performed genetic studies of the patient and her parents, but we could not find any mutation in our case. High-dose intravenous methylprednisolone and oral hydroxychloroquine were administered and she is still alive without progression during 21 months of follow-up.
DOI: 10.3346/jkms.2005.20.6.1066
PubMed: 16361824
Affiliations:
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Le document en format XML
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<term>Lung Diseases, Interstitial (genetics)</term>
<term>Lung Diseases, Interstitial (pathology)</term>
<term>Lung Diseases, Interstitial (physiopathology)</term>
<term>Methylprednisolone (administration & dosage)</term>
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<front><div type="abstract" xml:lang="en">Most of the interstitial lung diseases are rare, chronic, progressive and fatal disorders, especially in familial form. The etiology of the majority of interstitial lung disease is still unknown. Host susceptibility, genetic and environmental factors may influence clinical expression of each disease. With familial interstitial lung diseases, mutations of surfactant protein B and surfactant protein C or other additional genetic mechanisms (e.g. mutation of the gene for ATP-binding cassette transporter A3) could be associated. We found a 21 month-old girl with respiratory symptoms, abnormal radiographic findings and abnormal open lung biopsy findings compatible with nonspecific interstitial pneumonitis that is similar to those of her older sister died from this disease. We performed genetic studies of the patient and her parents, but we could not find any mutation in our case. High-dose intravenous methylprednisolone and oral hydroxychloroquine were administered and she is still alive without progression during 21 months of follow-up.</div>
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<name sortKey="Kim, Ja Hyung" sort="Kim, Ja Hyung" uniqKey="Kim J" first="Ja-Hyung" last="Kim">Ja-Hyung Kim</name>
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