Identification of Early Interstitial Lung Disease in an Individual With Genetic Variations in ABCA3 and SFTPC

被引：77

作者：

Crossno, Peter F. ^{[1
,10
]}

Polosukhin, Vasiliy V. ^{[1
]}

Blackwell, Timothy S. ^{[1
,2
,3
,9
]}

Johnson, Joyce E. ^{[4
]}

Markin, Cheryl ^{[1
]}

Moore, Paul E. ^{[5
]}

Worrell, John A. ^{[6
]}

Stahlman, Mildred T. ^{[7
]}

Phillips, John A., III ^{[8
]}

Loyd, James E. ^{[1
]}

Cogan, Joy D. ^{[8
]}

Lawson, William E. ^{[1
,9
]}

机构：

[1] Vanderbilt Univ, Sch Med, Div Allergy Pulm & Crit Care Med, Dept Med, Nashville, TN 37232 USA

[2] Vanderbilt Univ, Sch Med, Dept Cell & Dev Biol, Nashville, TN 37232 USA

[3] Vanderbilt Univ, Sch Med, Dept Canc Biol, Nashville, TN 37232 USA

[4] Vanderbilt Univ, Sch Med, Dept Pathol, Nashville, TN 37232 USA

[5] Vanderbilt Univ, Sch Med, Dept Pediat, Div Pulm Allergy & Immunol, Nashville, TN 37232 USA

[6] Vanderbilt Univ, Sch Med, Dept Radiol, Nashville, TN 37232 USA

[7] Vanderbilt Univ, Sch Med, Dept Pediat, Div Neonatol, Nashville, TN 37232 USA

[8] Vanderbilt Univ, Sch Med, Dept Pediat, Div Med Genet, Nashville, TN 37232 USA

[9] Dept Vet Affairs Med Ctr, Nashville, TN 37212 USA

[10] Intermt Med Ctr, Dept Med, Div Pulm & Crit Care, Murray, UT USA

来源：

CHEST | 2010年 / 137卷 / 04期

基金：

美国国家卫生研究院;

关键词：

SURFACTANT PROTEIN-C; ENDOPLASMIC-RETICULUM STRESS; MUTATIONS; HETEROZYGOSITY; APOPTOSIS; IPF;

D O I：

10.1378/chest.09-0790

中图分类号：

R4 [临床医学];

学科分类号：

1002 ; 100602 ;

摘要：

A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the individual and two daughters (aged 39 and 43 years) was sequenced for the I73T mutation and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation. The father and one daughter (aged 39 years) also had a transversion encoding an Asp123Asn (D123N) substitution in ABCA3. The daughters were evaluated by pulmonary function testing and high-resolution CT (HRCT). Neither daughter had evidence of disease, except for focal subpleural septal thickening on HRCT scan in one daughter (aged 39 years). This daughter underwent bronchoscopy with transbronchial biopsies revealing interstitial fibrotic remodeling. These findings demonstrate that subclinical fibrotic changes may be present in family members of patients with SFTPC mutation-associated interstitial lung disease and suggest that ABCA3 variants could affect disease pathogenesis. CHEST 2010; 137(4):969-973

引用

页码：969 / 973

页数：5

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