Diffuse Lung Disease |

Interstitial Lung Disease in an Adult With a Rare Genetic Disorder FREE TO VIEW

Casey Cable, MD; Jonathan Danaraj, DO; Jeffrey Garland, MD
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Mayo Clinic, Jacksonville, FL

Chest. 2014;146(4_MeetingAbstracts):407A. doi:10.1378/chest.1993830
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SESSION TITLE: ILD Student/Resident Case Report Posters

SESSION TYPE: Medical Student/Resident Case Report

PRESENTED ON: Tuesday, October 28, 2014 at 01:30 PM - 02:30 PM

INTRODUCTION: Surfactants are a mixture of phospholipids and proteins produced by alveolar type II cells in the lungs, which reduce surface tension and prevent atelectasis at end-expiration. Lack of surfactant protein B results in lethal neonatal lung disease. Mutations in surfactant protein C (SFTPC) are less critical in neonatal lung development, but are associated with the development of interstitial lung disease (ILD) and pulmonary fibrosis in pediatric patients.

CASE PRESENTATION: A 19-year-old lifetime non-smoking male with ILD secondary to SFTPC deficiency presented for transition of care to our tertiary care adult pulmonary clinic from a tertiary care pediatric pulmonary clinic. Family history is pertinent for a mother who is status post double lung transplant for ILD secondary to SFTPC deficiency. The patient was diagnosed with the deficiency in SFTPC by genetic testing at age 5. Cystic fibrosis testing was negative. He underwent an open lung biopsy at the age of 6. Pathology revealed chronic bronchiolitis with bronchiolectasis with mucus stasis, and patchy interstitial fibrosis with minimal interstitial chronic inflammation. Treatment with steroids and hydroxychloroquine were unsuccessful at controlling disease progression. On transition to our center, review of outside testing showed severe restrictive disease with a total lung capacity of 47% predicted, FVC 29% predicted, FEV1/FVC 66%, FEV1 23% predicted and diffusing capacity for carbon monoxide less than 2% predicted. Chest CT demonstrated diffuse interlobular septal thickening, centrilobular and septal emphysema, and bilateral basilar, lingular and right middle lobe fibrosis. He complained of persistent dyspnea and dry cough. Notable clinical findings revealed a room air saturation of 87% at rest, bilateral inspiratory crackles and a left ventricular lift, without evidence of right sided heart failure. Hemodynamic analysis showed a mean pulmonary artery pressure of 42 mmHg, RSVP 57mmHg, PVR 11.3 Woods units, with no shunt. He was placed on sildenafil. Lung transplant evaluation is ongoing.

DISCUSSION: Patients with rare pediatric lung diseases such as mutations in SFTPC are now increasingly living into adulthood, requiring the care of adult pulmonologists. No gene therapies are available at this time for the treatment of SFTPC mutations. Hydroxychloroquine and corticosteroids have been used empirically. Lung transplantation can be considered in patients with refractory respiratory failure; however, long term survival data is limited.

CONCLUSIONS: With advances in medical care patients with common pediatric lung diseases such as cystic fibrosis, and those with less common pediatric lung diseases, such as SFTPC deficiencies are increasingly living into adult hood. It is, therefore, incumbent upon adult pulmonologists to familiarize themselves with the diagnosis and treatment of these disorders.

Reference #1: Hamvas.Inherited Surfactant protein-B deficiency and SFTPC disease.Semin Perinatol.30:316-26.2006.

DISCLOSURE: The following authors have nothing to disclose: Casey Cable, Jonathan Danaraj, Jeffrey Garland

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