Association of renal ectopia with Fabry's disease in 3 patients.
OBJECTIVE
Fabry's disease is a rare, inherited lysosomal storage disorder characterized by decreased activity of the lysosomal hydrolase alpha-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.


METHODS
The diagnosis of Fabry's disease was made by measuring alpha-galactosidase A activity in blood leukocytes and by mutational analysis of the alpha-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 alpha-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 alpha-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.
Rákóczi
Eva
E
Lysosomal Storage Disease Center, Department of Infectious and Pediatric Immunology, University of Debrecen, Debrecen, Hungary.
Tóth
Beáta
B
Görögh
Sándor
S
Erdos
Melinda
M
Sümegi
János
J
Maródi
László
L
D000328:Adult; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D010375:Pedigree