Enfermedad de Fabry y enfermedad renal terminal: importancia de la combinación del trasplante renal y la terapia de reemplazo enzimático

2019 ◽  
Vol 1 (1) ◽  
pp. 21-27
Author(s):  
​Luis F. Pineda Galindo ◽  
Leslie Moranchel García
Keyword(s):  
Kidney Transplant ◽  
Kidney Diseases ◽  
Lysosomal Storage ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Enzyme Replacement ◽  
Multiple Organs ◽  
Glomerular Filtration Rate Decline ◽  
Stage Renal Disease ◽  
End Stage

Introduction. Fabry disease (FD) is a lysosomal storage disease with an X-linked inheritance caused by an enzyme deficiency leading to tissue accumulation of globotriaosylceramide–GL-3, cellular dysfunction, and tissue inflammation, which will end in progressive damage to multiple organs if untreated. Symptomatology is multi-systemic. In advanced disease, kidney, heart and central nervous system are susceptible to such accumulation and are usually responsible for fatal outcomes. Cases presentation. Two FD cases treated with enzyme replacement therapy (ERT) shortly before receiving a cadaveric kidney transplant are presented. FD therapy is multidisciplinary, requires a symptomatic approach and ERT, targeted to substrate accumulation. ERT is beneficial for organ function and patients’ survival. ERT enables GL-3 clearance from different kidney cell lines, stabilization in glomerular filtration rate decline, and reduction of catastrophic kidney complications. After kidney transplantation, graft survival is similar to or better than transplant for other kidney diseases. Conclusions. A complete treatment must include kidney transplant and ERT. Our cases results confirm the beneficial effect of ERT in patients who underwent renal transplantation for FD-related end-stage renal disease (ESRD). When these patients with minimal disease burden in other organs timely receive a kidney transplant, their potential for a positive long-term outcome is evident.

The Ethics of Infant Dialysis

1996 ◽  
Vol 16 (1_suppl) ◽  
pp. 505-509 ◽  
Author(s):  
Timothy E. Bunchman
Keyword(s):  
Standard Of Care ◽  
Health Care Team ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Number Of Factors ◽  
Long Term Prognosis ◽  
Infant Dialysis ◽  
Stage Renal Disease ◽  
End Stage

The proper treatment of an infant with end-stage renal disease depends upon a number of factors including parental willingness to take on the task, experience of the health-care team, local and regional resources, and society's willingness to accept this support as a standard of care. Whereas the abilityto keep infants aliveon peritoneal dialysis (PD) is obtainable, it is not without physical, financial, as well as emotional cost. In order for a family to agree to take on such a task, an understanding of the risks and long-term prognosis should be offered. This “informed consent” is difficult to obtain in such a highly charged situation when emotions often dictate choice independently of logic. Long-term outcome of infants on PD has improved over time, yet is still fraught with complications. Options of treatment or nontreatment are explored.

Overview of Peritoneal Dialysis in Latin America

2007 ◽  
Vol 27 (3) ◽  
pp. 316-321 ◽  
Author(s):  
Roberto Pecoits-Filho ◽  
Hugo Abensur ◽  
Alfonso M. Cueto-Manzano ◽  
Jorge Dominguez ◽  
José Carolino ◽  
...  
Keyword(s):  
Latin America ◽  
Peritoneal Dialysis ◽  
Replacement Therapy ◽  
Latin American ◽  
Personal Communication ◽  
Term Outcome ◽  
Long Term Outcome ◽  
American Society ◽  
Stage Renal Disease ◽  
End Stage

Latin America is a heterogeneous region comprised of 20 countries, former colonies of European countries, in which Latin-derived languages are spoken. According to the Latin American Society of Nephrology and Hypertension/ Sociedad Latino Americana de Nefrologia e Hipertensión (SLANH), the acceptance rate for renal replacement therapy is 103 new patients per million population. In Latin America, hemodialysis is the predominant form of replacement therapy for end-stage renal disease; however, some countries employ peritoneal dialysis (PD) in 30% or more patients. In particular, Mexico is the country with the largest PD utilization in the world, and furthermore, it is estimated that approximately 25% of the world's PD population may be found Latin America. Data concerning clinical practice and long-term outcome of PD in Latin America are scarce, although regional registries are increasing in number and quality. In this review article, we present an overview of the situation of PD in several countries of Latin America, based on the registry of the SLAHN, national registries, and personal communication with PD experts from different countries.

P1239SHORT- AND LONG-TERM OUTCOME OF END-STAGE RENAL DISEASE PATIENTS WITH ACUTE MYOCARDIAL INFARCTION

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Hirota Kida ◽  
Shungo Hikoso ◽  
Akihiro Sunaga ◽  
Oeun Bolrathanak ◽  
Takayuki Kojima ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
End Stage Renal Disease ◽  
Term Outcome ◽  
Long Term Outcome ◽  
All Cause Mortality ◽  
Short And Long Term ◽  
Stage Renal Disease ◽  
End Stage ◽  
Esrd Patients

Abstract Background and Aims End-stage renal disease (ESRD) patients frequently have the coronary artery disease. However, the short- and long-term outcome of ESRD patients with acute myocardial infarction (AMI) is little known. The aim of this study was to clarify it. Method Using the database of the Osaka Acute Coronary Insufficiency Study (OACIS), 8702 consecutive AMI patients (male: 75.2%, mean age: 66.9±12.2yrs) from 2002 to 2013 were analyzed. We classified these patients into two groups, those with ESRD [ESRD group (n=271)] and without ESRD [No-ESRD group (n=8431)] and examined in-hospital or long-term all-cause mortality. ESRD was defined as eGFR<15ml/min/1.73m2. Results ESRD group had higher frequency of diabetes (59.3% vs 37.8%, p<0.01), hypertension (90.1% vs 63.3%, p<0.01), Killip class≧2 (40.1% vs 21%, p<0.01), multi-vessel disease (69.3% vs 50.8%, p<0.01), and lower frequency of peak CK>3000 (21.7% vs 32.4%, p<0.01) than No-ESRD group. Mean follow-up period was 1041±721 days. In hospital mortality of ESRD group was 27% and No-ESRD group 7.2%. In patients who discharged alive (8027 patients), 1-year mortality of ESRD group was 12.2% and No-ESRD group 3.3%, 3-year mortality of ESRD group was 29.3% and No-ESRD group 8.7%. Kaplan-Meier analysis revealed that the all-cause mortality (log-rank p<0.01) was significantly higher in ESRD group than No-ESRD group. In ESRD patients who discharged alive (203patients), Cox univariate analysis after multiple imputation revealed that peak CK>3000 was significantly associated with an increased risk of mortality (Hazard ratio 2.67, 95% confidence interval 1.18to 6.07, p=0.031). Conclusion In patients with AMI, ESRD was significantly associated with worse short- and long-term outcome, suggesting that careful treatment might be required in ESRD patients with AMI, especially had peak CK>3000.

scholarly journals Fabry Nephropathy

2017 ◽  
Vol 141 (8) ◽  
pp. 1127-1131 ◽  
Author(s):  
Prudence Colpart ◽  
Sophie Félix
Keyword(s):  
Clinical Signs ◽  
Lysosomal Storage ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Disease Evolution ◽  
Enzyme Replacement ◽  
Life Threatening ◽  
A Cell ◽  
Gla Gene ◽  
Fabry Nephropathy

Fabry disease is a rare X-linked recessive lysosomal storage disease. Multiple mutations of the GLA gene lead to a deficient or absent activity of the lysosomal enzyme α-galactosidase A, resulting in progressive glycotriaosylceramide accumulation in many organs. Low α-galactosidase A activity and mutations in the GLA gene confirm the diagnosis. Clinical signs are multisystemic, heterogeneous, and progressive. Renal, cardiac, and neurovascular involvements are the main life-threatening complications, highlighting the importance of an early initiation of enzyme replacement therapy improving long-term outcome. Fabry nephropathy lesions are characterized by a cell vacuolization of glomeruli, tubules, interstitium, and arteries and by ultrastructural myelin bodies. The main histologic differential diagnoses are toxicity of lysosomal inhibitors and other renal lipidoses. Renal biopsies are not necessary for diagnosis but have an important role in the evaluation of disease evolution and treatment efficiency, which is a major challenge for improving outcome and quality of life.

End-stage renal disease patients on renal replacement therapy in the intensive care unit: Short- and long-term outcome*

2008 ◽  
Vol 36 (10) ◽  
pp. 2773-2778 ◽  
Author(s):  
Max Bell ◽  
Fredrik Granath ◽  
Staffan Schön ◽  
Erland Löfberg ◽  
Anders Ekbom ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Renal Replacement Therapy ◽  
End Stage Renal Disease ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Short And Long Term ◽  
Stage Renal Disease ◽  
End Stage

LONG-TERM OUTCOME COMPARISON BETWEEN MECHANICAL AND BIOPROSTHETIC VALVE IN END-STAGE RENAL DISEASE

2020 ◽  
Vol 75 (11) ◽  
pp. 2117
Author(s):  
Takuya Ogami ◽  
Eric Zimmermann ◽  
Roger Zhu ◽  
Yuming Ning ◽  
Paul A. Kurlansky ◽  
...  
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Bioprosthetic Valve ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Outcome Comparison ◽  
Stage Renal Disease ◽  
End Stage

Disease severity of proliferative lupus nephritis in Maghrebians

Lupus ◽  
2018 ◽  
Vol 27 (8) ◽  
pp. 1387-1392
Author(s):  
F Tamirou ◽  
N Costedoat-Chalumeau ◽  
G Medkouri ◽  
E Daugas ◽  
E Hachulla ◽  
...  
Keyword(s):  
Lupus Nephritis ◽  
Serum Creatinine ◽  
Outcome Data ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Renal Flare ◽  
Proliferative Lupus Nephritis ◽  
Similar Disease ◽  
Stage Renal Disease ◽  
End Stage

Objective To study the influence of Maghrebian ethnicity on lupus nephritis. Methods We retrospectively reviewed the files of a cohort of 194 patients with proliferative lupus nephritis followed in seven lupus centres belonging to three groups: Europeans living in Belgium/France (E; n = 111); Maghrebians living in Europe, in casu Belgium/France (ME; n = 43); and Maghrebians living in Morocco (MM; n = 40). Baseline presentation was compared between these three groups but complete long-term outcome data were available only for E and ME patients. Results At presentation, the clinical and pathological characteristics of lupus nephritis did not differ between E, ME and MM patients. Renal relapses were more common in ME patients (54%) than in E patients (29%) ( P < 0.01). Time to renal flare and to end-stage renal disease was shorter in ME patients compared to E patients ( P < 0.0001 and P < 0.05, respectively). While proteinuria measured at month 12 accurately predicted a serum creatinine value of less than 1 mg/dl at 7 years in E patients, this was not the case in the ME group, in whom serum creatinine at month 12 performed better. Conclusion Despite a similar disease profile at onset, the prognosis of lupus nephritis is more severe in Maghrebians living in Europe compared to native Europeans, with a higher relapse rate.

scholarly journals P0311INFECTION-RELATED GLOMERULONEPHRITIS IN ADULTS: TIME FOR A DEFINITIVE PARADIGM SHIFT?

2020 ◽  
Vol 35 (Supplement_3) ◽  
Author(s):  
Chiara Salviani ◽  
Mattia Zappa ◽  
Guido Jeannin ◽  
Mario Gaggiotti ◽  
Regina Tardanico ◽  
...  
Keyword(s):  
Risk Factors ◽  
Interstitial Fibrosis ◽  
Severe Disease ◽  
Significant Proportion ◽  
Laboratory Findings ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Stage Renal Disease ◽  
End Stage

Abstract Background and Aims The recent decades have witnessed significant changes in the epidemiology and clinical course of infection-related glomerulonephritis (IRGN). We analyzed the clinicopathological features and long-term outcome of adult patients with biopsy-proven IRGN followed in a large Italian referral centre. Method We included patients with biopsy-proven IRGN diagnosed from 2000 to 2018. Clinical and laboratory findings, histological features, possible risk factors and therapy were assessed for both renal and patient outcome. Results Forty-one patients met the inclusion criteria (male:female ratio 3:1, mean age 61±16 years). Smoke habit (47.2%), alcoholism (30.6%), and diabetes (27.5%) were the most common risk factors. The most frequently identified sites of infection were skin, lung and heart (Table 1). Staphylococci spp. accounted for 76.5% of positive cultures (Figure 1). Hypocomplementaemia emerged in 48.5% of cases. The most frequent histologic patterns were diffuse proliferative (56.0%) and membranoproliferative (29.3%) glomerulonephritis. Haemodialysis was required by 22.5% of patients at inception. Two thirds of patients developed chronic kidney disease; half of them reached end-stage renal disease (ESRD). By multivariate analysis ESRD was associated with diabetes (HR 13.7; 95% CI, 1.6-121.0; p=0.018), crescents (HR 25.2; 95% CI, 2.7-235.7; p=0.005), and interstitial fibrosis (HR 31.0; 95% CI, 3.3-287.3; p=0.003). Male gender (HR 12.7; 95% CI, 10.8-14.6; p=0.008) hypertension (HR 40.8; 95% CI, 38.6-43.1; p=0.001), gross haematuria (HR 11.8; 95% CI, 9.4-14.2; p=0.047), need for haemodialysis at onset (HR 16.3; 95% CI, 14.7-17.8; p&lt;0.0001), and interstitial infiltrate (HR 13.3; 95% CI, 11.6-15.0; p=0.003) significantly affected survival. Corticosteroids did not affect prognosis. Conclusion While traditionally considered a “benign” disease with a favorable course in children, IRGN is a potentially severe disease in adults, particularly when a background of major comorbidities and older age are present. A significant proportion of patients does not recover renal function, with a remarkable risk of ESRD.

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