A Case of Fabry's Disease with Congenital Agammaglobulinemia.
10.3346/jkms.2011.26.7.966
- Author:
Ki Yeol LEE
1
;
Su Young JEON
;
Jin Woo HONG
;
Sung Eun KIM
;
Ki Hoon SONG
;
Young Hun KIM
;
Ki Ho KIM
Author Information
1. Department of Dermatology, Dong-A University College of Medicine, Busan, Korea. khkim@dau.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Fabry Disease;
Agammaglobulinemia;
alpha-galactosidase A Gene;
Btk Gene
- MeSH:
Adult;
Agammaglobulinemia/congenital/*genetics/pathology;
Chromosomes, Human, X;
Fabry Disease/diagnosis/*genetics;
Humans;
Kidney/pathology;
Male;
Microscopy, Electron;
Sequence Analysis, DNA;
Skin/pathology;
alpha-Galactosidase/genetics/metabolism
- From:Journal of Korean Medical Science
2011;26(7):966-970
- CountryRepublic of Korea
- Language:English
-
Abstract:
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the alpha-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.
