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1.
Artigo em Inglês | MEDLINE | ID: mdl-37490995

RESUMO

BACKGROUND: Blunt traumatic thoracic aortic injuries (BTAIs) are associated with a high mortality rate. Thoracic endovascular aortic repair (TEVAR) is the most frequently used surgical strategy in patients with BTAI, as it offers good short- and middle-term results. Previous studies have reported an abnormally high prevalence of hypertension (HT) in these patients. This work aimed to describe the long-term prevalence of HT and provide a comprehensive evaluation of the biomechanical, clinical, and functional factors involved in HT development. METHODS: Twenty-six patients treated with TEVAR following BTAI with no history of HT at the time of trauma were enrolled. They were matched with 37 healthy volunteers based on age, sex, and body surface area and underwent a comprehensive follow-up study, including cardiovascular magnetic resonance, 24-hour ambulatory blood pressure monitoring, and assessment of carotid-femoral pulse wave velocity (cfPWV, a measure of aortic stiffness) and flow-mediated vasodilation. RESULTS: The mean patient age was 43.5 ± 12.9 years, and the majority were male (23 of 26; 88.5%). At a mean of 120.2 ± 69.7 months after intervention, 17 patients (65%) presented with HT, 14 (54%) had abnormal nighttime blood pressure dipping, and 6 (23%) high cfPWV. New-onset HT was related to a more proximal TEVAR landing zone and greater distal oversizing. Abnormal nighttime blood pressure was related to high cfPWV, which in turn was associated with TEVAR length and premature arterial aging. CONCLUSIONS: HT frequently occurs otherwise healthy subjects undergoing TEVAR implantation after BTAI. TEVAR stiffness and length, the proximal landing zone, and distal oversizing are potentially modifiable surgical characteristics related to abnormal blood pressure.

2.
Clin Kidney J ; 16(6): 1014-1021, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37260999

RESUMO

Background: Acute kidney injury (AKI) in patients with multiple myeloma (MM) requiring renal replacement treatment (RRT) is associated with high morbidity and mortality. Early reduction of serum free light chains (FLC) using both targeted therapy against MM and intensive hemodialysis (IHD) may improve renal outcomes. We evaluated the effectiveness of two different RRT techniques on renal recovery in an MM patient population: standard dialysis procedure vs IHD with either polymethylmethacrylate (PMMA) or hemodiafiltration with endogenous reinfusion (HFR). Methods: This was a multicentric retrospective study with severe AKI related to MM, between 2011 and 2018. Twenty-five consecutive patients with AKI secondary to MM requiring RRT were included. Patients that underwent IHD received six dialysis sessions per week during the first 14 days (PMMA vs HFR). All patients were diagnosed with de novo MM or first relapsed MM. Primary outcome was renal recovery defined as dialysis-free at 6 months follow-up. Results: A total of 25 patients were included. Seventeen patients received IHD and eight standard dialysis. All patients were treated with targeted therapy, 84% bortezomib-based. Of the 25 patients included, 14 (56%) became dialysis independent. We observed a higher proportion of patients who received IHD in the group who recovered kidney function compared with those who remained in HD (92.9% vs 36.4%, P = .007). In our study, the use of IHD to remove FLC had a statistically significant association with renal recovery compared with the standard dialysis group (P = .024). Conclusion: Early reduction of FLC with IHD as an adjuvant treatment along with MM-targeted therapy may exert a positive impact on renal recovery.

3.
Gastroenterol Hepatol ; 46(8): 594-602, 2023 Oct.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-36584754

RESUMO

BACKGROUND AND AIM: Patients with chronic kidney disease (CKD) and hepatitis C infection can be safely and effectively treated with direct-acting antivirals (DAAs). However, there is scarce data on the long-term impact of hepatitis C cure on CKD. The aim of this study was to assess the long-term mortality, morbidity and hepatic/renal function outcomes in a cohort of HCV-infected individuals with CKD treated with DAAs. METHODS: 135 HCV patients with CKD stage 3b-5 who received ombitasvir/paritaprevir/ritonavir±dasabuvir in a multicenter study were evaluated for long-term hepatic and renal outcomes and their associated mortality. RESULTS: 125 patients achieved SVR and 66 were included. Prior to SVR, 53 were under renal replacement therapy (RRT) and 25 (37.8%) had liver cirrhosis. After a follow-up of 4.5 years, 25 (38%) required kidney transplantation but none combined liver-kidney. No changes in renal function were observed among the 51 patients who did not receive renal transplant although eGFR values improved in those with baseline CKD stage 3b-4. Three (5.6%) subjects were weaned from RRT. Eighteen (27.3%) patients died, mostly from cardiovascular events; 2 developed liver decompensation and 1 hepatocellular carcinoma. No HCV reinfection was observed. CONCLUSIONS: Long-term mortality remained high among end-stage CKD patients despite HCV cure. Overall, no improvement in renal function was observed and a high proportion of patients required kidney transplantation. However, in CKD stage 3b-4 HCV cure may play a positive role in renal function.


Assuntos
Hepatite C Crônica , Hepatite C , Falência Renal Crônica , Insuficiência Renal Crônica , Humanos , Antivirais/efeitos adversos , Seguimentos , Hepatite C Crônica/complicações , Hepatite C Crônica/tratamento farmacológico , Quimioterapia Combinada , Hepatite C/tratamento farmacológico , Hepacivirus , Insuficiência Renal Crônica/complicações , Genótipo
4.
Eur J Vasc Endovasc Surg ; 62(5): 797-807, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34511317

RESUMO

OBJECTIVE: Thoracic endovascular aortic repair (TEVAR) is widely used for the treatment of patients with blunt traumatic thoracic aortic injury (BTAI). However, aortic haemodynamic and biomechanical implications of this intervention are poorly investigated. This study aimed to assess whether patients treated by TEVAR following BTAI have thoracic aortic abnormalities in geometry, stiffness, and haemodynamics. METHODS: Patients with BTAI treated by TEVAR at Vall d'Hebron Hospital between 1999 and 2019 were compared with propensity score matched healthy volunteers (HVs). All subjects underwent cardiovascular magnetic resonance (CMR) comprising a 4D flow CMR sequence. Spatially resolved aortic diameter, length, volume, and curvature were assessed. Pulse wave velocity, distensibility, and longitudinal strain (all measurements of aortic stiffness) were determined regionally. Moreover, advanced haemodynamic descriptors were quantified: systolic flow reversal ratio (SFRR), quantifying backward flow during systole, and in plane rotational flow (IRF), measuring in plane strength of helical flow. RESULTS: Twenty-six BTAI patients treated by TEVAR were included and matched with 26 HVs. They did not differ in terms of age, sex, and body surface area. Patients with TEVAR had a larger and longer ascending aorta (AAo) and marked abnormalities in local curvature. Aortic stiffness was greater in the aortic segments proximal and distal to TEVAR compared with controls. Moreover, TEVAR patients presented strongly altered flow dynamics compared with controls: a reduced IRF from the distal AAo to the proximal descending aorta and an increased SFRR in the whole thoracic aorta. These differences persisted adjusting for cardiovascular risk factors and were independent of time elapsed since TEVAR implantation. CONCLUSION: At long term follow up, previously healthy patients who underwent TEVAR implantation following BTAI had increased diameter, length and volume of the ascending aorta, and increased aortic stiffness and abnormal flow patterns in the whole thoracic aorta compared with matched controls. Further studies should address whether these alterations have clinical implications.


Assuntos
Aorta Torácica/lesões , Aorta Torácica/cirurgia , Ferimentos não Penetrantes/diagnóstico por imagem , Ferimentos não Penetrantes/cirurgia , Adulto , Aorta Torácica/diagnóstico por imagem , Implante de Prótese Vascular , Estudos Transversais , Procedimentos Endovasculares , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Análise de Onda de Pulso , Ferimentos não Penetrantes/fisiopatologia
5.
J Clin Med ; 10(11)2021 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-34198818

RESUMO

Diabetic kidney disease (DKD) is one of the most relevant complications of type 2 diabetes and dramatically increases the cardiovascular risk in these patients. Currently, DKD is severely infra-diagnosed, or its diagnosis is usually made at advanced stages of the disease. During the last decade, new drugs have demonstrated a beneficial effect in terms of cardiovascular and renal protection in type 2 diabetes, supporting the crucial role of an early DKD diagnosis to permit the use of new available therapeutic strategies. Moreover, cardiovascular and renal outcome trials, developed to study these new drugs, are based on diverse cardiovascular and renal simple and composite endpoints, which makes difficult their interpretation and the comparison between them. In this article, DKD diagnosis is reviewed, focusing on albuminuria and the recommendations for glomerular filtration rate measurement. Furthermore, cardiovascular and renal endpoints used in classical and recent cardiovascular outcome trials are assessed in a pragmatic way.

6.
Front Med (Lausanne) ; 8: 655871, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33928108

RESUMO

Obesity is one of the epidemics of our era. Its prevalence is higher than 30% in the U.S. and it is estimated to increase by 50% in 2030. Obesity is associated with a higher risk of all-cause mortality and it is known to be a cause of chronic kidney disease (CKD). Typically, obesity-related glomerulopathy (ORG) is ascribed to renal hemodynamic changes that lead to hyperfiltration, albuminuria and, finally, impairment in glomerular filtration rate due to glomerulosclerosis. Though not only hemodynamics are responsible for ORG: adipokines could cause local effects on mesangial and tubular cells and podocytes promoting maladaptive responses to hyperfiltration. Furthermore, hypertension and type 2 diabetes mellitus, two conditions generally associated with obesity, are both amplifiers of obesity injury in the renal parenchyma, as well as complications of overweight. As in the native kidney, obesity is also related to worse outcomes in kidney transplantation. Despite its impact in CKD and cardiovascular morbility and mortality, therapeutic strategies to fight against obesity-related CKD were limited for decades to renin-angiotensin blockade and bariatric surgery for patients who accomplished very restrictive criteria. Last years, different drugs have been approved or are under study for the treatment of obesity. Glucagon-like peptide-1 receptor agonists are promising in obesity-related CKD since they have shown benefits in terms of losing weight in obese patients, as well as preventing the onset of macroalbuminuria and slowing the decline of eGFR in type 2 diabetes. These new families of glucose-lowering drugs are a new frontier to be crossed by nephrologists to stop obesity-related CKD progression.

7.
Nefrología (Madrid) ; 40(6): 634-639, nov.-dic. 2020. tab
Artigo em Espanhol | IBECS | ID: ibc-197199

RESUMO

ANTECEDENTES Y OBJETIVOS: La biopsia renal transyugular (BTY) es una alternativa a la biopsia renal ecoguiada percutánea en caso de que existan contraindicaciones para su realización. En la actualidad, pocos centros realizan este procedimiento y la literatura acerca de las indicaciones, complicaciones y rentabilidad diagnóstica es limitada. El objetivo de este estudio es analizar las indicaciones, rendimiento diagnóstico, seguridad y complicaciones de la biopsia renal transyugular percutánea en los últimos 15 años en nuestro centro. MATERIAL Y MÉTODOS: Estudio descriptivo retrospectivo que revisa las biopsias renales transyugulares (BTY) realizadas en el Hospital Vall d'Hebrón de 2003 a 2018 para lo cual se ha llevado a cabo una revisión exhaustiva de las historias clínicas de los pacientes sometidos a este procedimiento durante el periodo de estudio. RESULTADOS: Durante el periodo de estudio se realizaron 56 BTY. Los pacientes fueron 31 hombres (55,4%) y 25 mujeres (44,6%), con una mediana de edad de 62 años (rango intercuartil (IQ) 25-75 [52,5-69,5]). La mediana de creatinina fue 2,69 mg/dL (IQ 25-75 [1,7-4,3]) y la de proteinuria (en 24 horas) de 2.000 mg (IQ 25-75[0,41-4,77]. Más de la mitad presentaban hematuria en el momento de la biopsia. La presión arterial media sistólica fue de 140 +/- 26 mmHg y diastólica 75 +/- 15 mmHg. La biopsia se realizó por insuficiencia renal aguda en 19 pacientes, enfermedad renal crónica en 12 y síndrome nefrótico en 10 casos; en 15 pacientes se realizó por otros motivos. Se decidió realización del procedimiento por vía transyugular por imposibilidad técnica ecoguiada en 16 de 56 casos (incluyendo riñones infracostales, obesidad y enfermedad pulmonar obstructiva crónica), alteraciones en hemostasia (n = 6), trombocitopenia (n = 5) y riñón único (n = 7). El 12,5% de las biopsias fueron hepato-renales. Se obtuvo diagnóstico histológico en dos tercios de las biopsias renales. La media de cilindros obtenidos fue de de 2,5 ± 1,3, y la media de glomérulos 6,6 ± 6,2. Los diagnósticos histológicos más frecuentes fueron nefropatía IgA, glomerulonefritis membranoproliferativa y microangiopatía trombótica. Se observaron tres complicaciones mayores: rotura de fórnix y dos requerimientos transfusionales por sangrado y hematoma subcapsular. CONCLUSIONES: En nuestro centro, la realización de BTY permitió el diagnóstico histológico en dos tercios de los pacientes que presentaban contraindicación para la realización de biopsia renal ecoguiada, permitiendo el diagnóstico y posterior tratamiento dirigido en dichos pacientes


BACKGROUND AND OBJECTIVES: Transjugular renal biopsies (TRB) are an alternative when percutaneous ultrasound renal biopsy is contraindicated. Few sites are currently carrying out this procedure, with limited literature existing on the indications, complications and diagnostic yield thereof. The aim of the study is to analyse the indications, diagnostic yield, safety and complications of percutaneous transjugular renal biopsies in our site over the last 15 years. MATERIAL AND METHODS: Retrospective descriptive study of all transjugular renal biopsies performed in our site, the Hospital Vall d'Hebron, between 2003 and 2018. For this, an exhaustive review of the clinical records of patients subjected to this procedure during the study period was conducted. RESULTS: 56 TRBs were performed during the study period. Out of the patients, 31 were men (55.4%) and 25 were women (44.6%), with a median age of 62 years (IQ range 25-75 [52.5-69.5]). More than half presented with haematuria at the time of biopsy, with a median creatinine of 2.69 mg/dL (IQ 25-75 [1.7-4.3]) and median proteinuria at 24 hours of 2000 mg (IQ 25-75 [0.41-4.77]).The mean systolic blood pressure (SBP) and diastolic blood pressure (DBP) were 140 +/- 26 mmHg and 75 +/- 15 mmHg, respectively. The biopsy was carried out owing to acute kidney failure in 19 patients, chronic kidney disease in 12 patients and nephrotic syndrome in 10 patients; in 15 patients it was carried out for other reasons. The most frequent TRB indication was technical impossibility in 16 of 56 cases (including infracostal kidneys, obesity and COPD), alterations in haemostasis (n = 6), thrombocytopenia (n = 5) and solitary kidney (n = 7). 12.5% of the biopsies were hepato-renal. Histological diagnoses were obtained in two thirds of the renal biopsies. The average number of cylinders obtained was 2.5 ± 1.3, with the average number of glomeruli being 6.6 ± 6.2. The most frequent histological diagnoses were IgA nephropathy, membranoproliferative glomerulonephritis and thrombotic microangiopathy. Three major complications were observed: fornix rupture and two transfusion requirements due to bleeding and subcapsular hematoma. CONCLUSIONS: In our site, TRB allowed for a histological diagnosis in 2/3 of patients for whom percutaneous ultrasound renal biopsy is contraindicated. This allowed us to diagnose and subsequently treat said patients


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Nefropatias/patologia , Biópsia/métodos , Estudos Retrospectivos , Nefropatias/diagnóstico , Estatísticas não Paramétricas , Reprodutibilidade dos Testes
8.
Nefrologia (Engl Ed) ; 40(6): 634-639, 2020.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32660793

RESUMO

BACKGROUND AND OBJECTIVES: Transjugular renal biopsies (TRB) are an alternative when percutaneous ultrasound renal biopsy is contraindicated. Few sites are currently carrying out this procedure, with limited literature existing on the indications, complications and diagnostic yield thereof. The aim of the study is to analyse the indications, diagnostic yield, safety and complications of percutaneous transjugular renal biopsies in our site over the last 15 years. MATERIAL AND METHODS: Retrospective descriptive study of all transjugular renal biopsies performed in our site, the Hospital Vall d'Hebron, between 2003 and 2018. For this, an exhaustive review of the clinical records of patients subjected to this procedure during the study period was conducted. RESULTS: 56 TRBs were performed during the study period. Out of the patients, 31 were men (55.4%) and 25 were women (44.6%), with a median age of 62 years (IQ range 25-75 [52.5-69.5]). More than half presented with haematuria at the time of biopsy, with a median creatinine of 2.69 mg/dL (IQ 25-75 [1.7-4.3]) and median proteinuria at 24 hours of 2000 mg (IQ 25-75 [0.41-4.77]).The mean systolic blood pressure (SBP) and diastolic blood pressure (DBP) were 140 +/- 26 mmHg and 75 +/- 15 mmHg, respectively. The biopsy was carried out owing to acute kidney failure in 19 patients, chronic kidney disease in 12 patients and nephrotic syndrome in 10 patients; in 15 patients it was carried out for other reasons. The most frequent TRB indication was technical impossibility in 16 of 56 cases (including infracostal kidneys, obesity and COPD), alterations in haemostasis (n = 6), thrombocytopenia (n = 5) and solitary kidney (n = 7). 12.5% of the biopsies were hepato-renal. Histological diagnoses were obtained in two thirds of the renal biopsies. The average number of cylinders obtained was 2.5 ± 1.3, with the average number of glomeruli being 6.6 ± 6.2. The most frequent histological diagnoses were IgA nephropathy, membranoproliferative glomerulonephritis and thrombotic microangiopathy. Three major complications were observed: fornix rupture and two transfusion requirements due to bleeding and subcapsular hematoma. CONCLUSIONS: In our site, TRB allowed for a histological diagnosis in 2/3 of patients for whom percutaneous ultrasound renal biopsy is contraindicated. This allowed us to diagnose and subsequently treat said patients.


Assuntos
Biópsia Guiada por Imagem/métodos , Veias Jugulares , Nefropatias/patologia , Rim/patologia , Injúria Renal Aguda , Adulto , Idoso , Contraindicações de Procedimentos , Creatinina/sangue , Feminino , Hematúria/diagnóstico , Humanos , Biópsia Guiada por Imagem/efeitos adversos , Biópsia Guiada por Imagem/estatística & dados numéricos , Nefropatias/diagnóstico , Masculino , Pessoa de Meia-Idade , Proteinúria/diagnóstico , Insuficiência Renal Crônica , Estudos Retrospectivos , Ultrassonografia de Intervenção
9.
Am J Transl Res ; 9(9): 4173-4183, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28979691

RESUMO

Immunosuppression based on calcineurin inhibitors (CNIs) has greatly improved organ transplantation, although subsequent nephrotoxicity significantly hinders treatment success. There are no currently available specific soluble biomarkers for CNI-induced nephrotoxicity and diagnosis relies on renal biopsy, which is costly, invasive and may cause complications. Accordingly, identification of non-invasive biomarkers distinguishing CNI-induced kidney tubular damage from that of other etiologies would greatly improve diagnosis and enable more precise dosage adjustment. For this purpose, HK-2 cells, widely used to model human proximal tubule, were treated with CNIs cyclosporine-A and FK506, or staurosporine as a calcineurin-independent toxic compound, and secretomes of each treatment were analyzed by proteomic means. Among the differentially secreted proteins identified, only fascin-1 was specifically released by both CNIs but not by staurosporine. To validate fascin-1 as a biomarker of CNI-induced tubular toxicity, fascin-1 levels were analyzed in serum and urine from kidney-transplanted patients under CNIs treatment presenting or not isometric vacuolization (IV), which nowadays represents the main histological hallmark of CNI-induced tubular damage. Patients with chronic kidney disease (CKD) and healthy volunteers were used as controls. Our results show that urinary fascin-1 was only significantly elevated in the subset of CNI-treated patients presenting IV. Moreover, fascin-1 anticipated the rise of sCr levels in serially collected urine samples from CNI-treated pulmonary-transplanted patients, where a decline in kidney function and serum creatinine (sCr) elevation was mainly attributed to CNIs treatment. In conclusion, our results point towards fascin-1 as a putative soluble biomarker of CNI-induced damage in the kidney tubular compartment.

10.
Transpl Int ; 30(11): 1119-1131, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28667664

RESUMO

The aim was to evaluate the relationship between maintenance immunosuppression, subclinical tubulo-interstitial inflammation and interstitial fibrosis/tubular atrophy (IF/TA) in surveillance biopsies performed in low immunological risk renal transplants at two transplant centers. The Barcelona cohort consisted of 109 early and 66 late biopsies in patients receiving high tacrolimus (TAC-C0 target at 1-year 6-10 ng/ml) and reduced MMF dose (500 mg bid at 1-year). The Oslo cohort consisted of 262 early and 237 late biopsies performed in patients treated with low TAC-C0 (target 3-7 ng/ml) and standard MMF dose (750 mg bid). Subclinical inflammation, adjusted for confounders, was associated with low TAC-C0 in the early (OR: 0.75, 95% CI: 0.61-0.92; P = 0.006) and late biopsies (OR: 0.69, 95% CI: 0.50-0.95; P = 0.023) from Barcelona. In the Oslo cohort, it was associated with low MMF in early biopsies (OR: 0.90, 95% CI: 0.83-0.98; P = 0.0101) and with low TAC-C0 in late biopsies (OR: 0.77, 95% CI: 0.61-0.97; P = 0.0286). MMF dose was significantly reduced in Oslo between early and late biopsies. IF/TA was not associated with TAC-C0 or MMF dose in the multivariate analysis. Our data suggest that in TAC- and MMF-based regimens, TAC-C0 levels are associated with subclinical inflammation in patients receiving reduced MMF dose.


Assuntos
Transplante de Rim , Ácido Micofenólico/administração & dosagem , Nefrite Intersticial/prevenção & controle , Complicações Pós-Operatórias/prevenção & controle , Tacrolimo/administração & dosagem , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Terapia de Imunossupressão , Rim/patologia , Masculino , Pessoa de Meia-Idade , Nefrite Intersticial/patologia , Complicações Pós-Operatórias/patologia
11.
Nefrología (Madr.) ; 36(3): 310-312, mayo-jun. 2016. ilus
Artigo em Espanhol | IBECS | ID: ibc-153218

RESUMO

La enfermedad de Fabry es una enfermedad de depósito lisosomal de carácter hereditario, ligada al cromosoma X, causado por el déficit de la enzima alfa-galactosidasa A (alfa-GLA A), lo que conduce a la acumulación de glicoesfingolípidos, principalmente globotriaosilceramida, en los tejidos. Es una enfermedad poco prevalente, y con muy bajo índice de sospecha, por lo que, generalmente, existe un retraso en el diagnóstico y en el tratamiento. Presentamos un caso de un paciente varón afecto de la enfermedad de Fabry, que presentaba múltiples quistes parapiélicos e insuficiencia renal, sin presentar angioqueratomas. El estudio genético mostró una mutación en el gen de alfa-GLA A que no ha sido descrita previamente en el registro de mutaciones, y de novo, ya que no se encontró en otros familiares, además que no fue trasmitida a la descendencia. La presencia de múltiples quistes parapiélicos y su peculiar aspecto fue lo que hizo sospechar el diagnóstico de la enfermedad (AU)


Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis (AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Doença de Fabry/fisiopatologia , Doenças Renais Policísticas/fisiopatologia , Insuficiência Renal Crônica/fisiopatologia , Mutação/genética , alfa-Galactosidase/análise , Ultrassonografia
12.
Nefrologia ; 36(3): 310-2, 2016.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-27061865

RESUMO

Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in delayed diagnosis and treatment. We present the case of a male Fabry disease patient who manifested no angiokeratoma lesions but presented multiple parapelvic cysts and renal failure. The genetic study revealed an alpha-GLA A gene mutation that had not been recorded in the mutations registry. The de novo mutation was not found in his relatives and it was not transmitted to his offspring. The large number and peculiar appearance of the parapelvic cysts led to the diagnosis.


Assuntos
Doença de Fabry/complicações , Doenças Renais Císticas/etiologia , Éxons/genética , Doença de Fabry/diagnóstico , Doença de Fabry/diagnóstico por imagem , Humanos , Doenças Renais Císticas/diagnóstico por imagem , Falência Renal Crônica/etiologia , Pelve Renal/patologia , Masculino , Pessoa de Meia-Idade , Deleção de Sequência , alfa-Galactosidase/genética
13.
J Clin Hypertens (Greenwich) ; 17(12): 963-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26293391

RESUMO

The aim of the current study was to evaluate risk factors associated with hypertension in kidney transplant recipients. The authors recruited 92 consecutive kidney transplant recipients and 30 age-matched patients with chronic kidney disease without history of cardiovascular events. Twenty-four-hour ambulatory blood pressure monitoring, pulse wave velocity, and carotid ultrasound were performed. Serum levels of log-transformed interleukin 6 (Log IL-6), soluble tumor necrosis factor receptor 2, and intercellular adhesion molecule 1 were determined. Twenty-four-hour systolic blood pressure (SBP) (P=.0001), Log IL-6 (P=.011), and total number of carotid plaques (P=.013) were higher, while the percentage decline of SBP from day to night was lower in kidney transplant recipients (P=.003). Independent predictors of 24-hour SBP were urinary protein/creatinine ratio and circulating monocytes (P=.001), while Log IL-6, serum creatinine, and total number of carotid plaques (P=.0001) were independent predictors of percentage decline of SBP from day to night. These results suggest that subclinical atherosclerosis and systemic inflammation are associated with hypertension after transplantation.


Assuntos
Aterosclerose/patologia , Hipertensão/patologia , Inflamação/patologia , Transplante de Rim , Adulto , Aterosclerose/sangue , Biomarcadores/sangue , Pressão Sanguínea/fisiologia , Monitorização Ambulatorial da Pressão Arterial/métodos , Artérias Carótidas/diagnóstico por imagem , Artérias Carótidas/patologia , Estudos de Coortes , Feminino , Humanos , Hipertensão/sangue , Inflamação/sangue , Molécula 1 de Adesão Intercelular/sangue , Interleucina-6/sangue , Masculino , Pessoa de Meia-Idade , Análise de Onda de Pulso/métodos , Receptores Tipo II do Fator de Necrose Tumoral/sangue , Insuficiência Renal Crônica/cirurgia , Fatores de Risco
14.
Transplantation ; 98(5): 537-42, 2014 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-24770618

RESUMO

BACKGROUND: Hypertension is one of the most prevalent cardiovascular risk factors in chronic kidney disease (CKD) and kidney transplants. The contribution of transplantation to hypertension in comparison to patients with CKD and similar renal function has not been characterized. METHODS: Ninety-two transplants and 97 CKD patients with an estimated glomerular filtration rate less than 60 mL/min/1.73 m not receiving dialysis were enrolled. At entry, office blood pressure (BP) and 24-hr ambulatory blood pressure monitoring (ABPM) were obtained. RESULTS: Office BP was not different between transplants and CKD patients (139.5±14.3 vs. 135.2±19.3, P=1.00, respectively). ABPM 24-hr systolic blood pressure (SBP) (133.9±14.3 vs. 126.2±16.1, P=0.014), awake SBP (135.6±15.2 vs. 128.7±16.2, P=0.042), and sleep SBP (131.2±16.2 vs. 120.2 ±17.9, P=0.0014) were higher in renal transplants. When patients were classified according to BP patterns associated with highest cardiovascular risk, the proportion of patients with both nocturnal hypertension and non-dipper pattern was higher in transplants (68.5% vs. 47.4%, P=0.03). In the multivariate regression analysis, transplantation was an independent predictor of 24-hr, awake, and sleep SBP. CONCLUSION: Office BP is similar in kidney transplants and CKD patients with similar renal function. On the contrary, hypertension is more severe in kidney transplants when evaluated with ABPM mainly as a result of increased sleep systolic BP. Thus, precise evaluation of hypertension in kidney transplants requires ABPM.


Assuntos
Hipertensão/etiologia , Transplante de Rim , Complicações Pós-Operatórias , Insuficiência Renal Crônica/cirurgia , Adolescente , Adulto , Idoso , Monitorização Ambulatorial da Pressão Arterial , Ritmo Circadiano , Feminino , Humanos , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Complicações Pós-Operatórias/epidemiologia , Prevalência , Análise de Regressão , Insuficiência Renal Crônica/complicações , Fatores de Risco , Índice de Gravidade de Doença , Adulto Jovem
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