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

Éva Rákóczi, Beáta Tóth, Sándor Görögh, Melinda Erdos, Janos Sumegi, László Maródi

Research output: Contribution to journalArticle

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 (US)
Pages (from-to)1949-1954
Number of pages6
JournalJournal of Urology
Volume181
Issue number4
DOIs
StatePublished - Apr 1 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

Rákóczi, É., Tóth, B., Görögh, S., Erdos, M., Sumegi, J., & Maródi, L. (2009). Association of Renal Ectopia With Fabry's Disease in 3 Patients. Journal of Urology, 181(4), 1949-1954. https://doi.org/10.1016/j.juro.2008.11.091

Association of Renal Ectopia With Fabry's Disease in 3 Patients. / Rákóczi, Éva; Tóth, Beáta; Görögh, Sándor; Erdos, Melinda; Sumegi, Janos; Maródi, László.

In: Journal of Urology, Vol. 181, No. 4, 01.04.2009, p. 1949-1954.

Research output: Contribution to journalArticle

Rákóczi, É, Tóth, B, Görögh, S, Erdos, M, Sumegi, J & Maródi, L 2009, 'Association of Renal Ectopia With Fabry's Disease in 3 Patients', Journal of Urology, vol. 181, no. 4, pp. 1949-1954. https://doi.org/10.1016/j.juro.2008.11.091
Rákóczi É, Tóth B, Görögh S, Erdos M, Sumegi J, Maródi L. Association of Renal Ectopia With Fabry's Disease in 3 Patients. Journal of Urology. 2009 Apr 1;181(4):1949-1954. https://doi.org/10.1016/j.juro.2008.11.091
Rákóczi, Éva ; Tóth, Beáta ; Görögh, Sándor ; Erdos, Melinda ; Sumegi, Janos ; Maródi, László. / Association of Renal Ectopia With Fabry's Disease in 3 Patients. In: Journal of Urology. 2009 ; Vol. 181, No. 4. pp. 1949-1954.
@article{fe57a9a1b6cf4768a04257fefa4634db,
title = "Association of Renal Ectopia With Fabry's Disease in 3 Patients",
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.",
keywords = "Fabry's disease, galactosidases, gene expression, globotriaosylceramide, kidney",
author = "{\'E}va R{\'a}k{\'o}czi and Be{\'a}ta T{\'o}th and S{\'a}ndor G{\"o}r{\"o}gh and Melinda Erdos and Janos Sumegi and L{\'a}szl{\'o} Mar{\'o}di",
year = "2009",
month = "4",
day = "1",
doi = "10.1016/j.juro.2008.11.091",
language = "English (US)",
volume = "181",
pages = "1949--1954",
journal = "Journal of Urology",
issn = "0022-5347",
publisher = "Elsevier Inc.",
number = "4",

}

TY - JOUR

T1 - Association of Renal Ectopia With Fabry's Disease in 3 Patients

AU - Rákóczi, Éva

AU - Tóth, Beáta

AU - Görögh, Sándor

AU - Erdos, Melinda

AU - Sumegi, Janos

AU - Maródi, László

PY - 2009/4/1

Y1 - 2009/4/1

N2 - 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.

AB - 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.

KW - Fabry's disease

KW - galactosidases

KW - gene expression

KW - globotriaosylceramide

KW - kidney

UR - http://www.scopus.com/inward/record.url?scp=62049085698&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=62049085698&partnerID=8YFLogxK

U2 - 10.1016/j.juro.2008.11.091

DO - 10.1016/j.juro.2008.11.091

M3 - Article

VL - 181

SP - 1949

EP - 1954

JO - Journal of Urology

JF - Journal of Urology

SN - 0022-5347

IS - 4

ER -