J Korean Med Sci.  2017 Dec;32(12):2073-2078. 10.3346/jkms.2017.32.12.2073.

The First Successful Lung Transplantation in a Korean Child with Cystic Fibrosis

• Noh SR
• Lee E
• Yoon J
• Jung S
• Yang SI
• Yu J
• Hong SJ

• KMID: 2396389
• DOI: http://doi.org/10.3346/jkms.2017.32.12.2073

Abstract

Cystic fibrosis (CF) is an autosomal recessive inherited multisystem disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Respiratory failure remains the most frequent cause of morbidity and mortality. Lung transplantation is the only option to treat end-stage lung disease. Very few cases of CF occur in Koreans. We report the case of a 12-year-old girl with respiratory failure due to CF who underwent lung transplantation. She had been diagnosed with CF 8 years previously after being treated for recurrent Pseudomonas aeruginosa pneumonia and malnutrition based on sweat chloride concentrations and the CFTR protein gene mutation test. Progression to end-stage lung disease and respiratory failure led to registration with the Korean Network for Organ Sharing. She underwent successful double lung transplantation in 2014. Although she has diabetes mellitus and chronic kidney disease, she has a better quality of life and a prolonged life expectancy.

Keyword

Cystic Fibrosis; Lung Transplantation; Child; Korea

MeSH Terms

Child*
Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis*
Diabetes Mellitus
Female
Humans
Korea
Life Expectancy
Lung Diseases
Lung Transplantation*
Lung*
Malnutrition
Mortality
Pneumonia
Pseudomonas aeruginosa
Quality of Life
Renal Insufficiency, Chronic
Respiratory Insufficiency
Sweat
Cystic Fibrosis Transmembrane Conductance Regulator

Figure

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  Fig. 1 Serial follow-up of radiologic findings before and after lung transplantation. (A) Initial chest X-ray at first admission to our hospital showing bronchiectasis and multifocal nodular opacity with peribronchial infiltration in both lungs (at the age of 7 years). (B) Chest CT scan taken at first admission showing bronchiectasis and consolidation in the right upper lobe and anterior basal segment of the left lower lobe (at the age of 7 years). (C) Chest X-ray taken one day before lung transplantation showing an increased extent of consolidation in both lungs. At that time, saturation was not maintained at 100% oxygen via a ventilator and ECMO (SpO2 75%–80%, pO2 35–40). (D) Follow-up chest CT scan taken 5 months after lung transplantation. (E) Follow-up chest X-ray at 2 years and 6 months after lung transplantation showing no remarkable findings. CT = computed tomography, ECMO = extracorporeal membrane oxygenation.

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  Fig. 2 Genotyping of CFTR. A heterozygous T to C transition was identified (c.1322T>C), but mutation of the opposite allele was not detectable. CFTR = cystic fibrosis transmembrane conductance regulator.

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  Fig. 3 Gross findings of the explanted lung of the recipient showing dilated bronchioles and diffuse fibrotic lung parenchyma with atrophy.

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  Fig. 4 Graph of the PFTs. After the lung transplantation, FVC and FEV1 gradually improved. PFT = pulmonary function test, FVC = forced vital capacity, FEV1 = forced expiratory volume in 1 second, CF = cystic fibrosis.

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