Renal sonogram11/11/2022 ![]() ![]() Few reports stated relevance, frequency and morphological characteristics of those renal cysts 3,4. ![]() Renal impairment in FD is widely known, but the occurrence of renal cysts as a manifestation of the disease should still be highlighted among radiologists and other specialist physicians. In men, genotyping allows family tracing for FD 2. Women, who can be heterozygous for such mutations, must be genotyped. As a result of this deficiency, globotriaosylceramide (Gb3) and other glycosphingolipids accumulate inside the cells, causing organic dysfunction such as kidney damage 1.Īlthough the major clinical manifestations of FD are well established, it can take years between the onset of the symptoms and final diagnosis, which remains a concern for physicians, patients and their families 1.Įnzymatic analyses screening applies for an initial diagnosis in men who have risk factors or family history of inborn errors of metabolism. ![]() It is a X-linked disease (OMIM #301500) caused by mutations in the gene that encodes the lysosomal a-Gal A enzyme, which affects glycosphingolipid metabolism. Parapelvic cysts on ultrasound can raise suspicion on Fabry disease in patients with kidney disease of unknown etiology especially in the context of a familial nephropathy.įabry disease (FD) is a rare condition caused by α-Galalactosidase A (α-Gal A) deficiency. None of the mutations we found in GLA gene was associated with a higher prevalence of parapelvic cysts.Ĭonclusions: When compared to different glomerulopathies, parapelvic cysts were more frequently found in Fabry disease despite age, gender and stage of CKD. Both groups had signs of CKD such as corticomedullary undifferentiation. When present, diameters of the parapelvic cysts were similar. ![]() Results: Both groups were similar in age (p = 0.29), gender (p = 0.98), eGFR (p = 0.10) and CKD stages (p = 0.19).Presence of parapelvic cysts differed significantly between those two groups (p < 0.0001 in right and left kidneys Cohen’s h = 1.15). Methods: We evaluated demographic, clinical and laboratory data, as well as kidney ultrasound (US) findings in 91 patients with Fabry disease (n=37) and different glomerulopathies (n=54). Objectives: To compare the presence of parapelvic cysts between Fabry disease and other causes of chronic kidney disease (CKD). Introduction: Renal impairment in Fabry disease is widely known, but the occurrence of renal cysts as a manifestation of the disease should still be highlighted among radiologists and other physicians. Riguetti 1, Simone Geraldini 1, Gustavo Ferreira da Mata 1, Carmen Mendes 4, Ana Maria Martins 4, João Bosco Pesquero 3, Gianna Mastroianni Kirsztajn 1*ġSection of Glomerulopathies, Nephrology Division, Federal University of São Paulo, São Paulo, BrazilĢRadiology Service of Hospital do Rim, São Paulo, BrazilģDepartment of Biophysics, Federal University of São Paulo, São Paulo, BrazilĤIGEIM (Innate Errors of Metabolism), Federal University of São Paulo, São Paulo, Brazil Azambuja Neves 1,2, Patrícia Varela 3, Danilo Euclides Fernandes 1*, Michelle T. Renal Ultrasound contributes to Fabry Disease Diagnosis ![]()
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