Vascular Calcification Is Associated with Fetuin-A and Cortical Bone Porosity in Stone Formers

Background: Nephrolithiasis has been associated with bone loss and vascular calcification (VC), reflecting abnormal extraosseous calcium deposition. Fetuin-A (Fet-A) acts as a potent inhibitor of ectopic mineralization. The aim of the present study was to evaluate the prevalence of VC in stone formers (SF) and non-stone formers (NSF) and to investigate potential determinants of VC among SF, including circulating levels of Fet-A and bone microarchitecture parameters. Methods: Abdominal aortic calcification (AAC) was assessed using available computed tomography in SF and in age-, sex-, and BMI-matched NSF (potential living kidney donors). Serum Fet-A was measured in stored blood samples from SF. Bone microarchitecture parameters were obtained as a post hoc analysis of a cross-sectional cohort from young SF evaluated by high-resolution peripheral quantitative computed tomography (HR-pQCT). Results: A total of 62 SF (38.0 [28.0-45.3] years old) and 80 NSF (40.0 [37.0-45.8] years old) were included. There was no significant difference in AAC scores between SF and NSF. However, when dividing SF according to mean AAC score, below = 5.8% (n = 29), SF with higher AAC presented significantly higher BMI and tibial cortical porosity (Ct.Po) and significantly lower serum HDL, klotho, Fet-A, and eGFR. Urinary calcium did not differ between groups, but fractional excretion of phosphate was higher in the former. Upon multivariate regression, BMI, serum Fet-A, and tibial Ct.Po remained independently associated with AAC. Conclusions: This study suggests an association between reduced circulating Fet-A levels and increased bone Ct.Po with VC in SF

Contribuição Do Exame De Imagem Para A Avaliação De Pacientes Com Deficiência De Alfa-Galactosidase A

Introduction: Alpha-Galactosidase A ("-Gala) Deficiency Is More Commonly Referred To As Fabry's Disease. It Is A Rare, Recessive, X-Linked Disease Caused By Mutations In The Gene Encoding The Lysosomal"-Gala Enzyme, Which Affects Glycosphingolipid Metabolism, As A Result Of Deficient Activity Of This Enzyme, Leading To The Progressive Accumulation Of Its Substrate In Plasma And Various Types Of Cells, Including Kidney Cells. Renal Impairment In Such Disease Is Known As Well As Its Progressive Nature, But There Are Still Many Gaps In Relation To The Nature Of The Renal Involvement And The Manner, Moment And Intensity With Which The Different Compartments Are Affected. There Are Few Descriptions Directed To The Presence, Frequency And Type Of Renal Cysts Found In This Disease, Motivating The Accomplishment Of The Present Study. Objectives: In Patients Of Both Genders With "-Gala Deficiency, Establish: Frequency Of The Occurrence Of Renal Cysts And Their Characteristics; Possible Association Between These FindinIntrodução: A Deficiência De Alfa-Galactosidase A ("-Gala) É Mais Comumente Referida Como Doença De Fabry. É Uma Doença Rara, Recessiva, Ligada Ao X, Causada Por Mutações No Gene Que Codifica A Enzima Lisossômica "-Gala, Que Afeta O Metabolismo De Glicoesfingolípides, Em Decorrência De Atividade Deficiente Desta Enzima, Levando Ao Acúmulo Progressivo Do Seu Substratono Plasma E Em Vários Tipos Celulares, Inclusive Nas Células Renais. O Acometimento Renal É Conhecido, Assim Como Seu Caráter Progressivo, Mas Ainda Existem Muitas Lacunas Em Relação À Natureza Das Alterações Renais E Ao Modo, Momento E Intensidade Em Que Ocorrem. Entre Elas, Encontram-Se Os Cistos Renais, Sobre Os Quais Existem Poucas Descrições Direcionadas À Presença, Frequência E Tiposobservados Nessa Doença, Motivando A Realização Do Presente Estudo. Objetivos: Em Pacientes De Ambos Os Sexos Com Deficiência De "-Gala, Estabelecer: Frequência Da Ocorrência De Cistos Renais E Suas Características; Eventual Associação Entre Esses Achados E O GenDados abertos - Sucupira - Teses e dissertações (2018