KCTBASE

Duchenne 근 디스트로피 보인자로 진단된 8개월 여아
A Carrier Of Duchenne Muscular Dystrophy In An 8-month-old Girl

대한소아신경학회지 2014년 22권 3호 p.160 ~ p.164

이윤진(Lee Yun-Jin) - 부산양산대학교 어린이병원 소아청소년과
송보경(Song Bo-Kyung) - 부산양산대학교 어린이병원 소아청소년과
김영미(Kim Young-Mi) - 부산대학교 의과대학 소아과학교실
남상욱(Nam Sang-Ook) - 부산양산대학교 어린이병원 소아청소년과

Abstract

Duchenne muscular dystrophy (DMD) is the most common and severe form of childhood muscular dystrophy. Females are affected in rare cases because of its’ X-linked, recessive inheritance. A small number of female DMD carriers have muscle weakness to some extent. A healthy 8-month-old girl was brought to our tertiary center because of the elevated serum liver enzyme (aspartate aminotransferase (AST): 986 IU/mL, alanine aminotransferase (ALT): 1,126 IU/mL), that was first noted 1 month ago when she was hospitalized for an acute respiratory infection. Follow-up her serum liver enzyme, AST and ALT level remained increased to 613 and 1,049 IU/mL, respectively without serologic evidence of viral hepatitis. Serum creatinine kinase (CK) level was highly elevated to 5,245 U/L. She showed normal development. Pseudohypertrophy of bilateral calf muscle was not observed, and Gowers’ sign was not seen because of her young age. Electromyography and cardiac echocardiography showed no abnormal findings. A multiplex ligation-dependent probe amplification confirmed the heterozygote deletion mutation of DMD gene in exon 10-17. The result of karyotyping was normal 46,XX. She was diagnosed as an asymptomatic DMD carrier. Female carriers are usually asymptomatic but may have an elevated serum CK and/or mild calf hypertrophy. A girl with persistent elevated liver enzyme and CK level should be evaluated for the neuromuscular disease including DMD, despite her normal motor activity.

키워드

Duchenne muscular dystrophy, Girl, Female

KMID : 0391520140220030160

원문 및 링크아웃 정보

등재저널 정보

주제코드

주제명(Target field)

연구대상(Population)

연구참여(Sample size)

대상성별(Gender)

질병특성(Condition Category)

연구환경(Setting)

연구설계(Study Design)

연구기간(Period)

중재방법(Intervention Type)

중재명칭(Intervention Name)

키워드(Keyword)

유효성결과(Recomendation)

연구비지원(Fund Source)

근거수준평가(Evidence Hierarchy)

출판년도(Year)

참여저자수(Authors)

대표저자

DOI

KCD코드

ICD 03

건강보험코드

Duchenne 근 디스트로피 보인자로 진단된 8개월 여아 A Carrier Of Duchenne Muscular Dystrophy In An 8-month-old Girl

Abstract

키워드

Duchenne 근 디스트로피 보인자로 진단된 8개월 여아
A Carrier Of Duchenne Muscular Dystrophy In An 8-month-old Girl