RESUMO
Renal amyloid-associated (AA) amyloidosis is a harmful complication of familial Mediterranean fever (FMF). Its occurrence involves polymorphisms and mutations in the Serum Amyloid A1 (SAA1) and Mediterranean Fever (MEFV) genes, respectively. In Algeria, the association between SAA1 variants and FMF-related amyloidosis was not investigated, hence the aim of this case-control study. It included 60 healthy controls and 60 unrelated FMF patients (39 with amyloidosis, and 21 without amyloidosis). All were genotyped for the SAA1 alleles (SAA1.1, SAA1.5, and SAA1.3), and a subset of them for the - 13 C/T polymorphism by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Comparisons between genotype and allele frequencies were performed using Chi-square and Fisher tests. The SAA1.1/1.1 genotype was predominant in amyloid FMF patients, compared to non-amyloid FMF patients (p = 0.001) and controls (p < 0.0001). SAA1.1/1.5 was higher in non-amyloid patients (p = 0.0069) and in controls (p = 0.0082) than in patients with amyloidosis. Bivariate logistic regression revealed an increased risk of AA amyloidosis with three genotypes, SAA1.1/1.1 [odds ratio 7.589 (OR); 95% confidence interval (CI): 2.130-27.041] (p = 0.0018), SAA1.1/1.3 [OR 5.700; 95% CI: 1.435-22.644] (p = 0.0134), and M694I/M694I [OR 4.6; 95% CI: 1.400-15.117] (p = 0.0119). The SAA1.1/1.5 genotype [OR 0.152; 95% CI: 0.040-0.587] (p = 0.0062) was protective against amyloidosis. In all groups, the - 13 C/C genotype predominated, and was not related to renal complication [OR 0.88; 95% CI: 0.07-10.43] (p = 0.915). In conclusion, in contrast to the - 13 C/T polymorphism, the SAA1.1/1.1, SAA1.1/1.3 and M694I/M694I genotypes may increase the risk of developing renal AA amyloidosis in the Algerian population.
Assuntos
Amiloidose , Febre Familiar do Mediterrâneo , Humanos , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/genética , Estudos de Casos e Controles , Amiloidose/genética , Fatores de Risco , Pirina , Proteína Amiloide A SéricaRESUMO
The objectives of this study were to investigate the clinical biological and histological renal involvement secondary to familial Mediterranean fever (FMF), the epidemiological data, genetics of our patients and their evolution under treatment. We prospectively studied 58 Algerian patients admitted in our nephrology department from January 2012 to January 2021. The diagnosis of nephropathy was suspected clinically and biologically and confirmed histologically. All our patients were tested for MEFV mutations. Results: 58 patients, 30 males and 28 females, mean age 31.68 ± 12.71; 3 (5.17%) chronic dialysis patients and 55 (94.82%) referred to the nephrology department for renal biopsy with renal symptomatology consisting of nephrotic syndrome in 50 (94. 73%), associated with renal failure 27 (47.36%), mainly primary in 23 (34.5%), secondary to seronegative lupus 13 (22.4%), Crohn's disease 9 (14.5%), sarcoidosis 3 (5.26%), and lymphoma 1 (1.7%); 29 (50%) were from consangineous marriages, the histological study found AA amyloidosis in 52 (89.6%); the genetic study confirmed the diagnosis of FMF in 58 (100%). The evolution of the patients: 20 (34.48%) followed in consultation, 25 (43.10%) in hemodialysis and 13 (22.41%) deceased. Conclusion: Renal involvement was the revealing complication in the diagnosis of FMF which exists in our country, and is still underdiagnosed.
Assuntos
Amiloidose , Febre Familiar do Mediterrâneo , Síndrome Nefrótica , Masculino , Feminino , Humanos , Adolescente , Adulto Jovem , Adulto , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/epidemiologia , Pirina/genética , Amiloidose/patologia , Síndrome Nefrótica/complicações , MutaçãoRESUMO
Lecithin-cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder that can reveal two different diseases: a very interesting nephrological picture of complete enzyme deficiency characterized by the association of dyslipidemia, corneal opacities, anemia, and progressive nephropathy; and a partial form (fish-eye disease) with dyslipidemia and progressive corneal opacities only. We report herein the case of a 35-year-old man who presented hypertension, renal symptomatology of rapidly progressive glomerulonephritis associates: nephrotic proteinuria, severe renal failure, in combination with annular corneal opacities, anemia, and dyslipidemia. The diagnosis of familial LCAT deficiency was confirmed by clinical examination, characteristic dyslipidemia, undetectable LCAT levels in plasma, and positive family history.
Assuntos
Anemia , Opacidade da Córnea , Dislipidemias , Deficiência da Lecitina Colesterol Aciltransferase , Insuficiência Renal , Humanos , Deficiência da Lecitina Colesterol Aciltransferase/complicações , Deficiência da Lecitina Colesterol Aciltransferase/diagnóstico , Deficiência da Lecitina Colesterol Aciltransferase/genética , Insuficiência Renal/diagnóstico , Insuficiência Renal/etiologiaRESUMO
OBJECTIVE: AA renal amyloidosis is present in Algeria, often secondary to chronic infections, the most frequent being tuberculosis. We studied the evolution of the epidemiology of AA amyloidosis over a period of 20 years. MATERIALS AND METHODS: We conducted a retrospective study of all adult and pediatric patients diagnosed with renal symptomatology of AA amyloidosis from 1994 to 2014 inclusive. The diagnosis was made by renal biopsy performed on native kidneys in the majority of patients, and the biopsy was read by the same pathologist. 378 patients were studied in two groups: G1: 1994 through 2004; G2: 2005 through 2014. RESULTS: The mean age at presentation increased from 42.07 ± 15.82 in G1 to 44.90 ± 14.4 years in G2 (p < 0.00008). Male gender was predominant in both groups. For the comparison of underlying diseases between G1 and G2 we found an increase of inflammatory diseases from 42.84% to 54.6% (p < 0.0011) with a decrease of idiopathic causes from 29.7 to 19.7% (p < 0.042). CONCLUSION: This work shows a decrease in infectious causes and an increase in inflammatory causes of AA amyloidosis, reflecting the progress of antibiotic therapy as well as the protocol put in place by our country to fight tuberculosis. AA amyloidosis of uncertain etiologies has been seen to be decreasing due to better identification of certain inflammatory causes, in particular familial Mediterranean fever.
Assuntos
Amiloidose , Febre Familiar do Mediterrâneo , Adulto , Amiloidose/diagnóstico , Amiloidose/epidemiologia , Criança , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/tratamento farmacológico , Feminino , Humanos , Rim , Masculino , Estudos Retrospectivos , Proteína Amiloide A SéricaRESUMO
SARS-CoV-2 vaccines are being administered worldwide. Most side effects are mild and self-limiting with few reported cases of severe reactions. We report a case of leukocytoclastic vasculitis with acute kidney failure following aninactivated SARS-CoV-2 vaccine, unique for its dramatic visual presentation and its rapid response to treatment. This is the case of a 58years-old man presenting with fever, arthralgias and vascular purpura on his limbs associated with acute kidney failure requiring hemodialysis nine days after anti-COVID-19 vaccination. Skin biopsy revealed a leukocytoclastic vasculitis and a renal biopsy showed an acute tubulointerstitial nephritis. The vascular purpura resolved 7days after initiating treatment with prednisone but the patient remains in chronic renal failure. The analysis and investigation of the complications and adverse events induced by anti-COVID-19 vaccines could increase our understanding of the underlying pathogenesis.
Assuntos
Injúria Renal Aguda , Vacinas contra COVID-19 , COVID-19 , Injúria Renal Aguda/etiologia , COVID-19/complicações , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Humanos , Vasculite por IgA , Masculino , SARS-CoV-2 , Vasculite Leucocitoclástica CutâneaRESUMO
SARS-CoV-2 vaccines are being administered worldwide. Most of the reported side effects are mild and self-limiting with few reported cases of severe adverse reactions. Here we report a case of acute cellular rejection in a kidney transplant recipient following vaccination with an inactivated SARS-CoV-2 vaccine. fifty- one years old man with autosomal dominant polycystic kidney disease, who had received a kidney transplantation from a living related donor, 3 years ago, presented with an impaired kidney function seven days after receiving the first dose of Sinovac's COVID-19 vaccine. Kidney transplant biopsy revealed acute cellular rejection. The allograft function completely recovered after treatment with steroids. The analysis and investigation of the complications and adverse reactions induced by anti-COVID-19 vaccines, could increase our understanding of the underlying pathogenesis. DOI: 10.52547/ijkd.6915.
Assuntos
Vacinas contra COVID-19 , COVID-19 , Rejeição de Enxerto , Transplante de Rim , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Rejeição de Enxerto/induzido quimicamente , Humanos , Transplante de Rim/efeitos adversos , Masculino , Pessoa de Meia-Idade , SARS-CoV-2 , Transplantados , Vacinação , Vacinas de Produtos Inativados/efeitos adversosRESUMO
Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads to end-stage renal disease in untreated patients. The data about the renal AA-amyloidosis secondary to FMF are scarce in North African countries and non-existent in Algeria. We aimed to investigate the MEFV mutations associated with this complication in an Algerian patient cohort. Molecular analysis included 28 unrelated Algerian FMF patients with ascertained amyloidosis, 23 of them were symptomatic and 5 were asymptomatic. For this study, a group of 20 FMF patients without renal amyloidosis were selected as controls according to their age, disease onset and disease duration. The mutations were detected by sequencing exon 10 of MEFV. A total of 87.5% (49/56) mutant alleles were identified in 27/28 analyzed patients; p.M694I was predominant and appeared with an allele frequency of 62.5%, followed by p.M694V (17.85%), p.M680I (5.35%) and p.I692Del (1.78%). Remarkably, only p.M694I mutation was observed among the asymptomatic patients. The M694I/M694I genotype, identified in 14/27 (52%) patients, was significantly associated with the development of amyloidosis compared to group of controls (p = 0.022). This study did not link the M694V/M694V genotype to the renal complication despite the fact that it has been observed only in the patients with amyloidosis (3/27; 11%) (p = 0.349). The association of other identified genotypes to this complication was statistically insignificant. The progression of amyloidosis led to end-stage renal disease in 14 patients with 6 deaths. This study shows that p.M694I homozygosity is a potential genetic risk factor for the development of renal AA-amyloidosis in Algerian FMF patients.