RESUMO
End-stage renal diseases (ESRD) are becoming more frequent in HIV-infected patients. In Europe there is little information about HIV-infected patients on dialysis. A cross-sectional multicenter survey in 328 Spanish dialysis units was conducted in 2006. Information from 14,876 patients in dialysis was obtained (81.6% of the Spanish dialysis population). Eighty-one were HIV infected (0.54%; 95% CI, 0.43-0.67), 60 were on hemodialysis, and 21 were on peritoneal dialysis. The mean (range) age was 45 (28-73) years. Seventy-two percent were men and 33% were former drug users. The mean (range) time of HIV infection was 11 (1-27) years and time on dialysis was 4.6 (0.4-25) years. ESRD was due to glomerulonephritis (36%) and diabetes (15%). HIV-associated nephropathy was not reported. Eighty-five percent were on HAART, 76.5% had a CD4 T cell count above 200 cells, and 73% had undetectable viral load. Thirty-nine percent of patients met criteria for inclusion on the renal transplant (RT) waiting list but only 12% were included. Sixty-one percent had HCV coinfection. HCV-coinfected patients had a longer history of HIV, more previous AIDS events, parenteral transmission as the most common risk factor for acquiring HIV infection, and less access to the RT waiting list (p < 0.05). The prevalence of HIV infection in Spanish dialysis units in 2006 was 0.54% HCV coinfection was very frequent (61%) and the percentage of patients included on the Spanish RT waiting list was low (12%).
Assuntos
Diálise , Infecções por HIV/complicações , Infecções por HIV/epidemiologia , Insuficiência Renal/terapia , Adulto , Idoso , Terapia Antirretroviral de Alta Atividade , Contagem de Linfócito CD4 , Estudos Transversais , Feminino , Infecções por HIV/tratamento farmacológico , Infecções por HIV/imunologia , Hepatite C/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Espanha/epidemiologia , Carga ViralRESUMO
Since 1993 we have studied 5 Spanish families with familial nephropathy associated with hyperuricemia (FJHN). Among these families, 24 patients have been identified. All patients had some combination of hyperuricemia, gout, renal insufficiency, arterial hypertension, and reduced kidney size. The clinical presentation in the different families and in the members of the same family was heterogeneous. Allopurinol treatment did not appear to influence renal disease. From a clinical perspective, this syndrome is a distinctive interstitial nephropathy, inherited as an autosomal dominant trait, that progresses to renal failure and is not halted nor prevented by allopurinol therapy. In 2003, genetic linkage analysis in 3 of the 5 families showed linkage of FJHN to 16p 11.2. One family was not analyzed and one family did not show linkage to this region confirming the genetic heterogeneity of this syndrome. A mutation in UMOD gene was found in these 3 families as the cause of the FJHN. The mutations cluster in exon 4 and exon 5 and were point mutation that results in an amino acid change in the uromodulin or Tamm Horsfall protein. This fact allowed in 2004, the presymptomatic genetic diagnosis of an 8-years-old boy belonging to one of these 3 Spanish families. We conclude that in families with a history of renal failure and/or gout in which FJHN is suspected, UMOD mutation screening may enable a definite diagnosis. When a mutation is found, family members can be tested for a UMOD mutation and pre-symptomatic diagnosis may allow counseling to prevent or halt the progression to renal insufficiency.
Assuntos
Hiperuricemia/diagnóstico , Hiperuricemia/genética , Nefropatias/diagnóstico , Nefropatias/genética , Mucoproteínas/genética , Mutação , Insuficiência Renal/genética , Adulto , Análise Mutacional de DNA , Éxons , Saúde da Família , Feminino , Ligação Genética , Humanos , Rim/patologia , Masculino , Pessoa de Meia-Idade , Insuficiência Renal/diagnóstico , Ácido Úrico/metabolismo , UromodulinaRESUMO
We describe one patient with the pre-symptomatic diagnosis of the disease named afamilial nephropathy associated to hyperuricemia)) (OMIM 162000; FJHN). This is a hereditary disease, autosomic dominant, characterized by its progression to renal insufficiency. Several mutations in the gene that codifies uromodulin or Tannn-Horsfall protein (UMOD) have been identified in some families. The clinical presentation is heterogeneous. In some cases the disease appears as juvenile hyperuricemia due to a diminished renal urate excretion, with or without gout, but in some other cases the first manifestation is renal insuffciency. The study of the UMOD gene shows that patient is heterozygous for the mutation C869 --> A, which results in C255Y change, and enabled to establish the diagnosis of FJHN. This patient shows the possibility to identify the genetic alteration associated to FJHN in early stages. This fact implies a clinical follow-up and eventual treatment to reduce the inexorable progression to renal insuffciency.
Assuntos
Hiperuricemia/complicações , Hiperuricemia/diagnóstico , Nefropatias/complicações , Nefropatias/diagnóstico , Criança , Humanos , Hiperuricemia/genética , Nefropatias/genética , Masculino , LinhagemRESUMO
Henoch-Schönlein purpura (HSP) is a necrotizing vasculitis affecting small vessels characterized by nontrombocytopenic purpura. The most characteristic clinical manifestations are purpura, arthritis, abdominal pain, abdominal bleeding and nephritis. Lung hemorrhage is a rare symptom associated with the HSP. Although the subclinical alterations of pulmonary function are frequent in patients with PSH without clinical lung manifestations, the presence of lung hemorrhage is an unusual symptom. We report a case of a patient with hemoptysis and HSP previously asymptomatic.
Assuntos
Hemorragia/complicações , Vasculite por IgA/complicações , Rim/patologia , Pneumopatias/complicações , Adulto , Glucocorticoides/uso terapêutico , Hemorragia/diagnóstico , Hemorragia/tratamento farmacológico , Humanos , Vasculite por IgA/diagnóstico , Vasculite por IgA/tratamento farmacológico , Imunoglobulina A/análise , Rim/imunologia , Pneumopatias/diagnóstico , Pneumopatias/tratamento farmacológico , Masculino , Resultado do TratamentoRESUMO
Secondary systemic amyloidosis (AA) occurs in association with chronic inflammatory disorders and chronic infections. Regression can occur after therapeutically induced remission of the underlying disease; spontaneous remissions has been reported infrequently. We report a 61 year-old woman, with antecedent pulmonary tuberculosis, who developed a nephrotic syndrome at the time of a respiratory infection. Renal biopsy showed secondary amyloidosis. Remission in the nephrotic syndrome appeared spontaneous, but it recurred in the course of pneumonia, and had a second spontaneous remission a maintained at present.
Assuntos
Amiloidose/complicações , Nefropatias/complicações , Síndrome Nefrótica/etiologia , Infecções Respiratórias/complicações , Amiloidose/patologia , Edema/etiologia , Feminino , Humanos , Hipercolesterolemia/complicações , Nefropatias/patologia , Pessoa de Meia-Idade , Pneumonia/complicações , Proteinúria/etiologia , Recidiva , Remissão Espontânea , Proteína Amiloide A Sérica/metabolismo , Tuberculose Pulmonar/complicaçõesRESUMO
We report two patients with rapidly progressive glomerulonephritis without alveolar hemorrhage. Renal biopsy showed extracapillary glomerulonephritis with linear deposits of immunoglobulin G. Serologically anti-glomerular basement membrane antibodies (Ac AMBG) and ANCA anti-myeloperoxidase were present. All patients were treated with steroids, cyclophosphamide and plasma exchange. One patient needed dialysis, and other one died from a renal biopsy complication. We discuss the epidemiologic, pathogenic and prognostic aspects of this association.
Assuntos
Autoanticorpos/imunologia , Autoantígenos/imunologia , Doenças Autoimunes/imunologia , Glomerulonefrite/imunologia , Glomérulos Renais/imunologia , Peroxidase/imunologia , Idoso , Anticorpos Anticitoplasma de Neutrófilos/imunologia , Doenças Autoimunes/complicações , Membrana Basal/imunologia , Biópsia/efeitos adversos , Terapia Combinada , Ciclofosfamida/uso terapêutico , Progressão da Doença , Evolução Fatal , Feminino , Glomerulonefrite/complicações , Glomerulonefrite/patologia , Hemorragia/etiologia , Humanos , Hipertrofia Ventricular Esquerda/complicações , Doenças do Complexo Imune/imunologia , Doenças do Complexo Imune/patologia , Imunoglobulina G/análise , Imunossupressores/uso terapêutico , Glomérulos Renais/patologia , Glomérulos Renais/ultraestrutura , Metilprednisolona/uso terapêutico , Pessoa de Meia-Idade , Plasmaferese , Prognóstico , Diálise Renal , Espaço RetroperitonealRESUMO
We report an 85 years-old patient with type 2 diabetes mellitus and both clinical and biochemical nephrotic syndrome. The renal biopsy showed membranous nephropathy at stage I-II. There was no evidence of malignancy. The patient was treated with steroids, and two months later the proteinuria had not improved. The objects under discussion are the factors that should lead to suspect the existence of glomerulonephritis, other than diabetic glomerulosclerosis, suggesting the need for kidney biopsy. We also focus on the prognostic and therapeutic relevance, as well as on the common pathogenic aspects.
Assuntos
Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas/diagnóstico , Glomerulonefrite Membranosa/diagnóstico , Corticosteroides/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Arteríolas/patologia , Biópsia , Diagnóstico Diferencial , Diuréticos/uso terapêutico , Edema/etiologia , Mesângio Glomerular/patologia , Glomerulonefrite Membranosa/complicações , Glomerulonefrite Membranosa/patologia , Humanos , Córtex Renal/patologia , Masculino , Derrame Pleural/etiologia , Proteinúria/etiologiaAssuntos
Injúria Renal Aguda/etiologia , Nefrose Lipoide/complicações , Síndrome Nefrótica/complicações , Injúria Renal Aguda/tratamento farmacológico , Injúria Renal Aguda/terapia , Corticosteroides/uso terapêutico , Idoso , Albuminas/uso terapêutico , Terapia Combinada , Diuréticos/uso terapêutico , Quimioterapia Combinada , Furosemida/uso terapêutico , Humanos , Masculino , Diálise RenalRESUMO
Sclerodema renal crisis is the usual form of presentation of renal disease in systemic sclerosis. We report a woman who at age 63 was given a diagnosis of scleroderma with Raynaud's phenomenon and cutaneous, oesophageal and lung involvement but no evidence of renal disease and no treatment with D-penicillamine. Two years later she developed progressive renal failure, nephrotic range proteinuria, haematuria and the presence of serum MPO-ANCA; she was normotensive. Renal biopsy revealed extracapillary and necrotizing glomerulonephritis and skin biopsy showed leucocytoclastic vasculitis. This clinical picture was compatible with necrotizing vasculitis of the microscopic polyarterits type. After treatment with pulse steroids followed by oral steroids and monthly intravenous cyclophosphamide her renal function stabilised and the serum MPO-ANCA disappeared.
Assuntos
Insuficiência Renal/etiologia , Escleroderma Sistêmico/complicações , Pele/irrigação sanguínea , Vasculite/etiologia , Idoso , Anticorpos Anticitoplasma de Neutrófilos/análise , Feminino , Humanos , Peroxidase/imunologia , Insuficiência Renal/tratamento farmacológico , Transtornos Respiratórios/etiologia , Escleroderma Sistêmico/tratamento farmacológico , Escleroderma Sistêmico/imunologia , Vasculite/tratamento farmacológicoRESUMO
The presence of genetic prothrombotic factors (factor V Leiden and the prothrombin II20210 mutation) was investigated in 38 patients with glomerulonephritis with or without a history of thrombotic events and/or nephrotic syndrome. We found an increased prevalence (36%) of heterozygous factor V Leiden in those patients with a history of thrombotic events. This is ten times the prevalence in the normal Spanish population. Carrier status for this mutation may be a determining factor in the development of thrombotic events along with the acquired disorders of coagulation to which these patients are prone. We found only one patient who was a carrier of the G-A II20210 mutation of the prothrombin gene; this patient had no history of venous thrombosis or embolism. Our findings suggest the need to measure activated protein C resistance and to look for the most frequent genotype causing it, Factor V Leiden, in patients with glomerulonephritis to identify those at risk who may benefit from prophylaxis against thrombosis.
Assuntos
Resistência à Proteína C Ativada/genética , Fator V/genética , Glomerulonefrite/complicações , Glomerulonefrite/genética , Protrombina/genética , Trombose/complicações , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , PrevalênciaRESUMO
Recombinant human growth hormone (rhGH; Saizen, Serono, Spain) has been recently used as an anabolic agent in several catabolic states, including malnourished chronic dialysis patients. However, up-to-date, comparative studies with control groups of dialysis patients have not been reported. The aim of the present study was to assess the effects of rhGH on nutritional status in a group of malnourished adult chronic dialysis patients undergoing both continuous ambulatory peritoneal dialysis (CAPD) and hemodialysis (HD). The patients were randomly assigned to the control group (nine patients; 6 women, 3 men; mean age, 58.3 +/- 5.6 years; seven undergoing CAPD, two undergoing HD) or the rhGH group (eight patients; three women, five men; mean age, 63.9 +/- 3.1 years; four undergoing CAPD, four undergoing HD). Both groups were similar at baseline. All patients were given dietary prescriptions (35 kcal/kg/d and 1 g protein/kg ideal body weight/d) during 4 weeks. In the rhGH group, rhGH was administered at 0.2 IU/kg/d subcutaneously (SC) during this period. Anthropometric and analytic parameters were assessed before (0 weeks) therapy and at 2 and 4 weeks after starting therapy. The rhGH group showed an increase of 1.238 kg in body weight from 64.3 +/- 4.3 (mean +/- standard error of the mean [SEM]) to 65.6 +/- 4.9 kg (P < 0.05). Serum insulin-like growth factor type 1 (IGF-1) concentrations increased from 216.6 +/- 42.5 to 581.2 +/- 171.5 ng/mL (4 weeks; P < 0.01) and transferrin levels increased from 271.2 +/- 16.3 to 314.5 +/- 21.2 mg/dL (4 weeks; P < 0.05). A significant reduction in blood urea nitrogen (BUN) level was observed (62.1 +/- 1.8 v 46.8 +/- 3.8 mg/dL; 4 weeks; P < 0.05). Mean daily protein intake, determined by individual dietary survey, at 0 and 4 weeks, remained constant in both groups. In conclusion, weight gain and IGF-1 and transferrin level increases and BUN level decreases, despite the constant oral intake, suggest that short-term rhGH administration is associated with an anabolic reaction in malnourished dialysis patients.
Assuntos
Hormônio do Crescimento/uso terapêutico , Falência Renal Crônica/terapia , Diálise Peritoneal Ambulatorial Contínua , Diálise Renal , Adulto , Idoso , Nitrogênio da Ureia Sanguínea , Peso Corporal/efeitos dos fármacos , Feminino , Seguimentos , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Projetos Piloto , Transferrina/metabolismoRESUMO
Several alterations in growth hormone (GH) secretion have been reported in patients with chronic renal failure. The aim of the present report has been to assess the effect of acutely administered recombinant human erythropoietin (rHuEPO) infusion on GH responses to thyrotropin-releasing hormone (TRH) in uremic patients. Twelve male patients (mean age 46.2 years, range 24 to 69) were studied. Seven of them were on continuous ambulatory peritoneal dialysis (CAPD), two on chronic hemodialysis (HD) and two in pre-dialysis (PreD). None had been treated before with rHuEPO. Each patient was tested with TRH (400 micrograms i.v. in bolus), and with TRH plus rHuEPO (40 U/kg in constant infusion for 30 min) on different days. TRH administration provoked a paradoxical response of GH (peak > 5 micrograms/liter) in nine (5 CAPD, 2 HD, 2 PreD) out of 12 patients. In this group of patients with anomalous GH responses, rHuEPO infusion produced an abolishment of the paradoxical responses (GH peak < 5 micrograms/liter) in eight patients and a marked decrease in a further one. On the contrary, in patients with no paradoxical GH response, stimulation with TRH plus rHuEPO did not induce any change in GH release compared with that observed after TRH alone. rHuEPO had no effect on TRH-induced thyrotropin release. These results suggest that the paradoxical GH response to TRH in patients with chronic renal failure is blocked by rHuEPO administration. This rHuEPO action might be mediated by an increased release of somatostatin or an inhibited GH-releasing hormone secretion.
Assuntos
Eritropoetina/farmacologia , Hormônio do Crescimento/sangue , Hormônio Liberador de Tireotropina/farmacologia , Uremia/sangue , Adulto , Idoso , Combinação de Medicamentos , Eritropoetina/administração & dosagem , Humanos , Infusões Intravenosas , Falência Renal Crônica/sangue , Falência Renal Crônica/etiologia , Falência Renal Crônica/terapia , Masculino , Pessoa de Meia-Idade , Diálise Peritoneal Ambulatorial Contínua , Hipófise/fisiologia , Proteínas Recombinantes , Diálise Renal , Hormônio Liberador de Tireotropina/administração & dosagem , Uremia/etiologia , Uremia/terapiaAssuntos
Injúria Renal Aguda/etiologia , Embolia/complicações , Artéria Renal , Idoso , Colesterol , Cristalização , Embolia/etiologia , Humanos , Masculino , Fatores de TempoRESUMO
The case of a patient with progressive systemic sclerosis, who developed hypoglycaemia and insulin autoantibodies, is described. Repeated blood glucose measurements showed levels less than 2.8 mmol/l. High immunoreactive insulin levels, with undetectable free insulin, led to the discovery of anti-insulin antibodies in the patient's serum. He had no history of exogenous insulin use and was receiving penicillamine treatment. A double mechanism for the autoimmune insulin syndrome in this case is proposed: acting in a patient with increased humoral immunoresponsiveness, penicillamine might have induced the development of insulin autoantibodies.
Assuntos
Doenças Autoimunes/induzido quimicamente , Insulina/imunologia , Penicilamina/efeitos adversos , Adulto , Autoanticorpos/sangue , Glicemia/metabolismo , Humanos , Masculino , Penicilamina/uso terapêuticoRESUMO
C3 nephritic factor (NEF) has been found in 3 siblings presenting different (or none) degrees of renal disease. Other relatives, including their dead father, suffered from a renal illness. In 2 of the siblings, NEF activity was restricted to IgG1 and IgG3 subclasses. Familial NEF incidence and a shared C3 allotype and a common HLA haplotype including BfS alleles for the 3 NEF-positive siblings suggest that at least in our cases genetical factors may be involved in NEF generation.