Association of Renal Ectopia With Fabry's Disease in 3 Patients

Éva Rákóczi, B. Tóth, Sándor Görögh, M. Erdős, János Sümegi, L. Máródi

Research output: Contribution to journalArticle

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Abstract

Purpose: Fabry's disease is a rare, inherited lysosomal storage disorder characterized by decreased activity of the lysosomal hydrolase α-galactosidase A and impaired degradation of globotriaosylceramide, which accumulates in the lysosomes of virtually every cell in the body. Kidney damage is a prominent feature of the disease but to our knowledge renal ectopia as a comorbidity has not been previously reported. We present clinical and genetic features in 2 female and 1 male patient with Fabry's disease and renal ectopia. Materials and Methods: The diagnosis of Fabry's disease was made by measuring α-galactosidase A activity in blood leukocytes and by mutational analysis of the α-galactosidase A gene. The anatomical location of the kidneys was defined by native and single bolus 3-phase coronal computerized tomography angiography. To determine the possible genetic association of Fabry's disease and renal ectopia we performed a genetic analysis of informative, closely linked microsatellite markers surrounding the gene. Results: All patients carried the c.469C>T mutation in the α-galactosidase A gene, causing premature stop codon (Glu157X). In all 3 patients downward dislocation of the right kidney (pelvic kidney) was found in association with double renal arteries. We noted that a haplotype telomeric to the α-galactosidase A gene cosegregated with renal ectopia in 3 family members, suggesting the existence of a gene for X-linked renal ectopia in the region of DXS1001-DXS1073. Conclusions: To our knowledge this is the first report of an association of renal ectopia with Fabry's disease.

Original languageEnglish
Pages (from-to)1949-1954
Number of pages6
JournalJournal of Urology
Volume181
Issue number4
DOIs
Publication statusPublished - Apr 2009

Fingerprint

Fabry Disease
Galactosidases
Kidney
Genes
X-Linked Genes
Nonsense Codon
Hydrolases
Renal Artery
Lysosomes
Microsatellite Repeats
Haplotypes
Comorbidity
Angiography
Leukocytes
Tomography

Keywords

  • Fabry's disease
  • galactosidases
  • gene expression
  • globotriaosylceramide
  • kidney

ASJC Scopus subject areas

  • Urology

Cite this

Association of Renal Ectopia With Fabry's Disease in 3 Patients. / Rákóczi, Éva; Tóth, B.; Görögh, Sándor; Erdős, M.; Sümegi, János; Máródi, L.

In: Journal of Urology, Vol. 181, No. 4, 04.2009, p. 1949-1954.

Research output: Contribution to journalArticle

Rákóczi, Éva ; Tóth, B. ; Görögh, Sándor ; Erdős, M. ; Sümegi, János ; Máródi, L. / Association of Renal Ectopia With Fabry's Disease in 3 Patients. In: Journal of Urology. 2009 ; Vol. 181, No. 4. pp. 1949-1954.
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