Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene.
We report a 69-year-old woman who presented with dyspnea, orthopnea, and acute renal failure. She also had proximal muscle weakness suggestive of muscle disease. Her symptoms were alleviated by induced dieresis, although there was high-serum creatine kinase. Investigations for any possible etiologies of rhabdomyolysis were all negative. An X-linked recessive muscle disease was highly suspicious in view of the fact that both of her sons had suffered from muscle disease and died of respiratory failure at the ages of 22 and 29, respectively. Her muscle biopsy showed mosaic pattern with dystrophin antibody against amino-terminal, carboxy-terminal, and rod domain. Her DNA study revealed heterozygous duplication at exon 1 to 6 of the dystrophin gene as well. Therefore, she is a manifesting carrier of dystrophinopathy who was first diagnosed in late adulthood with congestive heart failure, acute episode of spontaneous rhabdomyolysis, and acute renal failure.
Tunteeratum
Atchara
A
Division of Medical Genetics and Molecular Medicine, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. atunteeratum@yahoo.com
Witoonpanich
Rawiphan
R
Phudhichareonrat
Suchart
S
Eu-ahsunthornwattana
Jakris
J
Pingsuthiwong
Sarinee
S
Srichan
Kanoknan
K
Sura
Thanyachai
T
D058186:Acute Kidney Injury / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000368:Aged; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006333:Heart Failure / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D018908:Muscle Weakness / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D012206:Rhabdomyolysis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
D016189:Dystrophin; D005819:Genetic Markers; D003402:Creatine Kinase