Pediatr Allergy Respir Dis.  2011 Mar;21(1):61-66.

A case Report of a Classic Cystic fibrosis Pediatric Patient in Korea Carrying Very Rare CFTR Gene Mutations (D993Y and Q220X)

• Kim MJ
• Kang JW
• Lee JH
• Kim KW
• Sohn MH
• Lee MG
• Kim MJ
• Kim KE

Abstract

Cystic fibrosis is the most common autosomal recessive disease in Caucasian. Cystic fibrosis is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations that lead to dysfunction of chloride ion channel regulations in the epithelium. Cystic fibrosis can affect multiple organ functions, resulting in various signs and symptoms. Typically, chronic airway infection, maldigestion, failure to thrive, and male infertility can occur. There are approximately 1800 CFTR gene mutations which have been identified thus far. However, there are only a few types of mutations reported in Korea because the prevalence of the disease is different among ethnicitiess and nations. Despite its rarity, reports of CFTR mutations or diagnosed patients on the rise. Therefore, we have to detect better outcomes as early as possible based on a precise understanding of the disease entity. We report a 9-year-old girl carrying D339Y and Q220X gene mutations, as the first case report of a D339Y mutation in Korea.

Keyword

Cystic fibrosis; CFTR gene mutation; Korea

MeSH Terms

Child
Chloride Channels
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Epithelium
Failure to Thrive
Humans
Infertility, Male
Korea
Lifting
Male
Prevalence
Social Control, Formal
Chloride Channels
Cystic Fibrosis Transmembrane Conductance Regulator

Figure

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  Fig. 1. (A) Plain chest X-ray shows diffuse nodular densities in both lungs. (B) Water's view shows both maxillary sinusitis.

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  Fig. 2. Multiple tiny air-space nodules are seen in both lung fields. Also bronchiectasis in both lungs are observed on computer tomographic imaging.

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  Fig. 3. Denaturing gradient gel electrophoresis (DGGE) results of the patient and her family. (A) There are single nucleotide polymorphisms (SNPs) in exon 6a of M and P. (B) There are SNPs in exon 16 of F, P, B and S. Abbreviations: F, father; M, mother; P, patient; B, brother; S, sister

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  Fig. 4. A pedigree of the patient diagnosed as cystic fibrosis. 2 kinds of disease-causing mutations are found in this patient. Q220X mutation is from her mother, and D993Y came from her father. In the other words, her parents are unaffected carriers. She has 2 siblings possessing D993Y. Both of them are not only the unaffected but also carriers.

Reference

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