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001-es BibID:BIBFORM010693
Első szerző:Rákóczi Éva (klinikai szakorvos)
Cím:Association of renal ectopy with Fabry disease in three patients / Rákóczi Éva, Tóth Beáta, Görögh Sándor, Erdős Melinda, Sümegi János, Maródi László
Dátum:2009
ISSN:0022-5347 (Print)
Megjegyzések: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. MATERIALS AND 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.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
egyetemen (Magyarországon) készült közlemény
Megjelenés:The Journal of Urology. - 181 : 4 (2009), p. 1949-1954. -
További szerzők:Lajszné Tóth Beáta (1978-) (molekuláris biológus) Görögh Sándor Erdős Melinda (1975-) (infektológus, gyermekimmunológus) Sümegi János Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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