J Korean Med Sci.  2011 Jul;26(7):966-970. 10.3346/jkms.2011.26.7.966.

A Case of Fabry's Disease with Congenital Agammaglobulinemia

• Lee KY
• Jeon SY
• Hong JW
• Kim SE
• Song KH
• Kim YH
• Kim KH

• KMID: 1094273
• DOI: http://doi.org/10.3346/jkms.2011.26.7.966

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.

Keyword

Fabry Disease; Agammaglobulinemia; alpha-galactosidase A Gene; Btk Gene

MeSH Terms

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

Figure

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  Fig. 1 Clinical features and histopathologic findings. Multiple tiny red papules on (A) back and (D) scrotum. A skin biopsy from (B&C) back and (E&F) scrotum showed capillary dilatation on papillary dermis and several vacuolar changes in endothelial cells.

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  Fig. 2 A renal biopsy revealed (A) global sclerosis and segmental sclerosis with moderate interstitial fibrosis (H&E, × 20) and (B&C) diffuse foamy changes of podocyte and tubular epithelial cell cytoplasm (H&E, × 400).

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  Fig. 3 Electron microscopic findings. (A) Numerous electron dense lamellar inclusion bodies in the cytoplasm of skin fibroblasts (skin) and (B&C) renal podocytes (kidney).

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  Fig. 4 Slit-lamp finding showed fine, whorl-like, superficial corneal opacities.

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  Fig. 5 DNA analysis. (A) The PCR results showing smaller size at DNA PCR for GLA cDNA compared with normal control. (B) DNA sequence analysis showing c.640-11T>A on intron 4 which is the splicing acceptor site in the GLA gene.

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