Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.887
Filtrar
1.
Arch. argent. pediatr ; 118(3): e288-e291, jun. 2020. ilus
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1116957

RESUMO

El síndrome de Pierson se caracteriza por la presencia de síndrome nefrótico congénito y microcoria bilateral. Genéticamente, este trastorno está ocasionado por mutaciones en el gen LAMB2, que codifica la cadenaß2 de la laminina. Hasta la fecha, en la bibliografía se informaron 98casos y 50mutaciones diferentes. No existen terapias específicas para el síndrome de Pierson, y el tratamiento es complementario. El pronóstico es malo por la disfunción renal progresiva y las complicaciones de la insuficiencia renal. En este artículo, se informa sobre una mutación homocigota novedosa (c.1890G>C [p.Q630H]) en el gen LAMB2 en una paciente con síndrome de Pierson que tenía un fenotipo atípico, como epidermólisis ampollosa.


Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin ß2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa


Assuntos
Humanos , Feminino , Lactente , Mutação , Síndrome Nefrótica/diagnóstico , Turquia , Epidermólise Bolhosa , Evolução Fatal , Insuficiência Renal
2.
Medicine (Baltimore) ; 99(25): e20572, 2020 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-32569182

RESUMO

RATIONALE: Infection is a major trigger or pathogenic origin in a substantial proportion of glomerulonephritis (GN) patients, typically manifesting infection-related GN (IRGN). Various microorganisms, infection sites, and clinical and histopathological features are involved in IRGN. Once an infectious origin is identified and successfully eradicated, nephrotic syndrome or kidney dysfunction is spontaneously resolved. However, if patients are asymptomatic and the origin is undetermined, the diagnosis and treatment of GN is challenging. This case presentation reported on an IRGN case manifesting steroid-resistant nephrotic syndrome associated with asymptomatic sinusitis as a pathogenic origin. PATIENT CONCERNS: A 68-year-old male presented with severe kidney dysfunction and edema in both extremities. DIAGNOSIS: The patient was clinically diagnosed with hypocomplementemic nephrotic syndrome and kidney dysfunction and histopathologically with diffuse proliferative GN and a focal pattern of membranoproliferative GN. The findings suggested that idiopathic membranoproliferative glomerulonephritis type I was more likely than IRGN, given a critical lack of apparent infection. INTERVENTIONS: Combined intravenous methylprednisolone, oral prednisolone, and cyclosporin did not improve the patient's condition. Thus, IRGN associated with inapparent infectious origin was suspected. Repeated thorough and careful examinations including CT scan showed sinusitis in his left maxillary sinus. Moreover, reanalysis of kidney specimen revealed positive nephritis-associated plasmin receptor in glomeruli, a typical finding for IRGN, supporting a pathogenic significance of his sinusitis. Medical treatment was initiated with 200 mg oral clarithromycin daily. OUTCOMES: Oral clarithromycin gradually improved proteinuria and hypocomplementemia and resulted in nephrotic syndrome remission in parallel with opacification resolution of sinuses shown on CT. LESSONS: This case presentation showed that asymptomatic sinusitis is potentially a pathogenic IRGN origin. A gold standard therapy for idiopathic GN, corticosteroid could be damaging in uncontrolled or underdiagnosed infection. In asymptomatic patients, a thorough screening of infectious diseases, including sinusitis, together with a renal histological evaluation of glomerular nephritis-associated plasmin receptor deposition is also essential in treating a wide spectrum of GN.


Assuntos
Glomerulonefrite Membranoproliferativa/diagnóstico , Sinusite/complicações , Idoso , Doenças Assintomáticas , Diagnóstico Diferencial , Glomerulonefrite Membranoproliferativa/etiologia , Glomerulonefrite Membranoproliferativa/patologia , Humanos , Masculino , Síndrome Nefrótica/congênito , Síndrome Nefrótica/diagnóstico , Sinusite/diagnóstico por imagem , Tomografia Computadorizada por Raios X
5.
BMJ Case Rep ; 13(2)2020 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-32029514

RESUMO

A 32-year-old man was referred to our clinic for evaluation of abnormal liver function tests and concurrent proteinuria. Physical examination revealed a maculopapular rash, involving the trunk and palms, and multiple 'moth-eaten' patches of alopecia. After a prolonged diagnostic work-up a hepatitis with concomitant nephrotic syndrome due to secondary syphilis was diagnosed. Treatment with benzylpenicillin led to complete clinical recovery. Syphilis is a re-emerging infectious disease with heterogeneous clinical presentation that should be considered in the differential diagnosis of inexplicable simultaneous liver and kidney dysfunction in patients with high-risk sexual behaviour.Syphilis is a re-emerging infectious disease with heterogeneous clinical presentation that should be considered in the differential diagnosis of inexplicable simultaneous liver and kidney dysfunction in patients with high-risk sexual behaviour.


Assuntos
Hepatite/diagnóstico , Síndrome Nefrótica/diagnóstico , Penicilina G/uso terapêutico , Sífilis/complicações , Adulto , Alopecia/microbiologia , Exantema/microbiologia , Hepatite/microbiologia , Humanos , Masculino , Síndrome Nefrótica/microbiologia , Proteinúria/microbiologia
7.
Medicine (Baltimore) ; 98(49): e18247, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31804353

RESUMO

RATIONALE: Patients with chronic Strongyloides stercoralis infection are usually asymptomatic; therefore, their condition is easily overlooked. In immunosuppressed patients, mortality is high because of disseminated infection and hyperinfection. This report describes a fatal S stercoralis hyperinfection in a patient with nephrotic syndrome after treatment with steroids. PATIENT CONCERNS: A 70-year-old male presented with a history of progressive edema, skin infection, persistent fever, cough, intermittent abdominal pain, and progressive respiratory failure after steroid treatment. DIAGNOSIS: Nephrotic syndrome; cellulitis; S stercoralis hyperinfection; Klebsiella pneumonia. INTERVENTIONS: During the first hospital admission, the patient was administered full-dose glucocorticoid and antibiotic therapy after suffering from cellulitis. During the second admission, he was diagnosed and treated for normal digestive discomfort and a bacterial infection. The patient had progressive respiratory failure and was placed on a ventilator. He was immediately treated with albendazole when S stercoralis was found in samples of his sputum and feces. OUTCOMES: The patient died despite treatment with albendazole and antibiotic therapy. LESSONS: It is essential to consider the possibility of S stercoralis infection in immunosuppressed patients with nephrotic syndrome. Given the lack of classic manifestations and high mortality rate of advanced disease, continuous monitoring, early diagnosis, and proper treatment are imperative.


Assuntos
Infecções por Klebsiella/diagnóstico , Síndrome Nefrótica/diagnóstico , Estrongiloidíase/diagnóstico , Idoso , Animais , Doença Crônica , Coinfecção , Diagnóstico Diferencial , Evolução Fatal , Humanos , Hospedeiro Imunocomprometido , Infecções por Klebsiella/tratamento farmacológico , Masculino , Síndrome Nefrótica/tratamento farmacológico , Strongyloides stercoralis , Estrongiloidíase/tratamento farmacológico
8.
Pan Afr Med J ; 34: 75, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31819791

RESUMO

We describe a patient who developed nephrotic syndrome in the setting of ovarian tumor. A kidney biopsy showed minimal change nephropathy (MCN). CT scan and MR imaging followed by surgery lead to diagnostic of ovarian dermoid cyst. Surgery combined with corticosteroids resulted in a complete remission of nephrotic syndrome with disappearance of proteinuria after 3 weeks. Ten other cases of ovarian tumor associated with glomerulopathy are reviewed. This is the second case of an ovarian teratoma associated with MCN. Accurate history, physical examination, laboratory data, and kidney biopsy are highlighted in establishing the correct diagnosis in such patients.


Assuntos
Nefrose Lipoide/diagnóstico , Síndrome Nefrótica/diagnóstico , Neoplasias Ovarianas/diagnóstico , Teratoma/diagnóstico , Feminino , Humanos , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Nefrose Lipoide/etiologia , Síndrome Nefrótica/etiologia , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/terapia , Proteinúria/etiologia , Indução de Remissão , Teratoma/complicações , Teratoma/terapia , Tomografia Computadorizada por Raios X
9.
An Sist Sanit Navar ; 42(3): 345-349, 2019 Dec 05.
Artigo em Espanhol | MEDLINE | ID: mdl-31859277

RESUMO

Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder with systemic clinical manifestations. There are few publications about the renal effects of this disease, with renal vascular disease and adrenal tumors being the most frequent forms of renal involvement, while cases describing glomerular effects are exceptional. Despite the lack of published information, common molecular mechanisms in both NF-1 and nephrotic syndrome, involving the mTOR pathway, were suggested to explain a possible association between both pathologies. We present two cases of renal involvement in the form of nephrotic syndrome in patients diagnosed with NF1. A 41-year-old female was diagnosed of NF-1 in the context of a nephrotic syndrome with resistance to steroid treatment; the renal biopsy revealed a diagnosis of minimal changes disease. The second case is other 71-year-old woman with a history of NF-1, who presented a nephrotic syndrome and secondary renal amyloidosis.


Assuntos
Glomerulonefrite/etiologia , Síndrome Nefrótica/etiologia , Neurofibromatose 1/complicações , Adulto , Idoso , Amiloidose/diagnóstico , Amiloidose/etiologia , Amiloidose/fisiopatologia , Biópsia , Feminino , Glomerulonefrite/diagnóstico , Glomerulonefrite/fisiopatologia , Humanos , Nefrose Lipoide/diagnóstico , Nefrose Lipoide/etiologia , Nefrose Lipoide/fisiopatologia , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/fisiopatologia
10.
J. bras. nefrol ; 41(4): 526-533, Out.-Dec. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1056617

RESUMO

ABSTRACT Introduction: Children with nephrotic syndrome are at increased risk of infections because of disease status itself and use of various immunosuppressive agents. In majority, infections trigger relapses requiring hospitalization with increased risk of morbidity and mortality. This study aimed to determine the incidence, spectrum, and risk factors for major infections in hospitalized children with nephrotic syndrome. Methods: All consecutive hospitalized children between 1-12 years of age with nephrotic syndrome were enrolled in the study. Children with acute nephritis, secondary nephrotic syndrome as well as those admitted for diagnostic renal biopsy and intravenous cyclophosphamide or rituximab infusion were excluded. Results: A total of 148 children with 162 admissions were enrolled. Incidence of major infections in hospitalized children with nephrotic syndrome was 43.8%. Peritonitis was the commonest infection (24%), followed by pneumonia (18%), urinary tract infection (15%), and cellulitis (14%), contributing with two thirds of major infections. Streptococcus pneumoniae (n = 9) was the predominant organism isolated in children with peritonitis and pneumonia. On logistic regression analysis, serum albumin < 1.5gm/dL was the only independent risk factor for all infections (OR 2.6; 95% CI, 1.2-6; p = 0.01), especially for peritonitis (OR 29; 95% CI, 3-270; p = 0.003). There were four deaths (2.5%) in our study, all due to sepsis and multiorgan failure. Conclusions: Infection remains an important cause of morbidity and mortality in children with nephrotic syndrome. As Pneumococcus was the most prevalent cause of infection in those children, attention should be paid to the pneumococcal immunization in children with nephrotic syndrome.


RESUMO Introdução: Crianças com síndrome nefrótica apresentam maior risco de infecções devido ao próprio status da doença e ao uso de vários agentes imunossupressores. Em grande parte, as infecções desencadeiam recidivas que exigem hospitalização, com risco aumentado de morbidade e mortalidade. Este estudo teve como objetivo determinar a incidência, o espectro e os fatores de risco para infecções graves em crianças hospitalizadas com síndrome nefrótica. Métodos: Todas as crianças hospitalizadas consecutivamente entre 1 e 12 anos de idade com síndrome nefrótica foram incluídas no estudo. Crianças com nefrite aguda, síndrome nefrótica secundária, bem como aquelas admitidas para biópsia renal diagnóstica e infusão intravenosa de ciclofosfamida ou rituximabe foram excluídas. Resultados: Foram cadastradas 148 crianças com 162 internações. A incidência de infecções graves em crianças hospitalizadas com síndrome nefrótica foi de 43,8%. A peritonite foi a infecção mais comum (24%), seguida por pneumonia (18%), infecção do trato urinário (15%) e celulite (14%), contribuindo com dois terços das principais infecções. Streptococcus pneumoniae (n = 9) foi o organismo predominantemente isolado em crianças com peritonite e pneumonia. Na análise de regressão logística, a albumina sérica < 1,5gm / dL foi o único fator de risco independente para todas as infecções (OR 2,6; 95% CI, 1,2-6; p = 0,01), especialmente para peritonite (OR 29; IC95% 3 -270, p = 0,003). Houve quatro mortes (2,5%) em nosso estudo, todas devido a sepse e falência de múltiplos órgãos. Conclusões: A infecção continua sendo uma importante causa de morbimortalidade em crianças com síndrome nefrótica. Como o Pneumococo foi a causa mais prevalente de infecção nessas crianças, deve-se atentar para a imunização pneumocócica em crianças com síndrome nefrótica.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Hospitalização/estatística & dados numéricos , Infecções/mortalidade , Infecções/epidemiologia , Síndrome Nefrótica/complicações , Peritonite/sangue , Celulite (Flegmão)/complicações , Celulite (Flegmão)/microbiologia , Celulite (Flegmão)/epidemiologia , Incidência , Albuminas/análise , Hospitalização/tendências , Imunossupressores/efeitos adversos , Índia/epidemiologia , Infecções/etiologia , Insuficiência de Múltiplos Órgãos/mortalidade , Insuficiência de Múltiplos Órgãos/epidemiologia , Síndrome Nefrótica/diagnóstico
11.
Commun Biol ; 2: 416, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31754646

RESUMO

In black African children with focal segmental glomerulosclerosis (FSGS) there are high rates of steroid resistance. The aim was to determine genetic associations with apolipoprotein L1 (APOL1) renal risk variants and podocin (NPHS2) variants in 30 unrelated black South African children with FSGS. Three APOL1 variants were genotyped and the exons of the NPHS2 gene sequenced in the cases and controls. APOL1 risk alleles show a modest association with steroid sensitive nephrotic syndrome (SSNS) and steroid resistant nephrotic syndrome (SRNS). The NPHS2 V260E variant was present in SRNS cases (V/V = 5; V/E = 4; E/E = 11), and was absent in SSNS cases. Haplotype analysis suggests a single mutation origin for V260E and it was associated with a decline in kidney function over a 60-month period (p = 0.026). The V260E variant is a good predictor of autosomal recessive SRNS in black South African children and could provide useful information in a clinical setting.


Assuntos
Grupo com Ancestrais do Continente Africano/genética , Alelos , Substituição de Aminoácidos , Glomerulosclerose Segmentar e Focal/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas de Membrana/genética , Mutação , Síndrome Nefrótica/genética , Apolipoproteína L1/genética , Criança , Pré-Escolar , Resistência a Medicamentos/genética , Feminino , Genótipo , Glomerulosclerose Segmentar e Focal/diagnóstico , Glomerulosclerose Segmentar e Focal/tratamento farmacológico , Haplótipos , Humanos , Masculino , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/tratamento farmacológico , Linhagem , Esteroides/farmacologia , Esteroides/uso terapêutico
12.
Georgian Med News ; (294): 68-71, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31687952

RESUMO

The aim of our work was to determine the gene polymorphism of cytokines IL-1ß (-511) and IL-10 (-1082) in children with nephrotic syndrome. 20 patients with nephrotic syndrome were recruited into the study from 2017 to 2018 years in single center. Our study included children with levels of glomerular filtration rate >90 ml/min. Genetic polymorphism of IL-1ß (-511) and IL-10 (-1082) and serum IL1ß were evaluated. Analyzing the contents of IL-1ß in serum of children with nephrotic syndrome, we found that IL-1ß was significantly increased in children with steroid-resistant nephrotic syndrome and with progression of glomerulonephritis compared with remission and with healthy children (p<0.05). The presence of C/T genotype is associated with increased production of interleukin-1ß in serum, compared with children with genotype C/C (p<0.05). Checking the polymorphism of SNP -1082 of IL-10 we determined that in 50% of children with nephrotic syndrome there was G/A genotype, in 40% - G/G genotype, and genotype А/А was only in 10% of patients. A strong direct relationship between the level of IL-1ß in serum and C/T allelic polymorphism of the gene IL-1ß (-511) was found (r=+0,56) (p<0.05). Gene polymorphism of IL-1ß (-511) can be used as a marker of progression of glomerulonephritis, nephrotic syndrome but more studies are needed.


Assuntos
Interleucina-10/genética , Interleucina-1beta/genética , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/genética , Polimorfismo Genético/genética , Criança , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Interleucina-10/sangue , Interleucina-1beta/sangue , Masculino , Síndrome Nefrótica/imunologia
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1022-1024, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598951

RESUMO

OBJECTIVE: To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF). METHODS: Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing. RESULTS: The fetus was found to carry compound heterozygous variants c.1440+1G>A and c.925G>T of the NPHS1 gene, which were respectively inherited from its mother and father. CONCLUSION: Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.


Assuntos
Síndrome Nefrótica/congênito , Síndrome Nefrótica/diagnóstico , Feminino , Feto , Finlândia , Heterozigoto , Humanos , Proteínas de Membrana/genética , Gravidez , Diagnóstico Pré-Natal
15.
J Bras Nefrol ; 41(4): 526-533, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31528983

RESUMO

INTRODUCTION: Children with nephrotic syndrome are at increased risk of infections because of disease status itself and use of various immunosuppressive agents. In majority, infections trigger relapses requiring hospitalization with increased risk of morbidity and mortality. This study aimed to determine the incidence, spectrum, and risk factors for major infections in hospitalized children with nephrotic syndrome. METHODS: All consecutive hospitalized children between 1-12 years of age with nephrotic syndrome were enrolled in the study. Children with acute nephritis, secondary nephrotic syndrome as well as those admitted for diagnostic renal biopsy and intravenous cyclophosphamide or rituximab infusion were excluded. RESULTS: A total of 148 children with 162 admissions were enrolled. Incidence of major infections in hospitalized children with nephrotic syndrome was 43.8%. Peritonitis was the commonest infection (24%), followed by pneumonia (18%), urinary tract infection (15%), and cellulitis (14%), contributing with two thirds of major infections. Streptococcus pneumoniae (n = 9) was the predominant organism isolated in children with peritonitis and pneumonia. On logistic regression analysis, serum albumin < 1.5gm/dL was the only independent risk factor for all infections (OR 2.6; 95% CI, 1.2-6; p = 0.01), especially for peritonitis (OR 29; 95% CI, 3-270; p = 0.003). There were four deaths (2.5%) in our study, all due to sepsis and multiorgan failure. CONCLUSIONS: Infection remains an important cause of morbidity and mortality in children with nephrotic syndrome. As Pneumococcus was the most prevalent cause of infection in those children, attention should be paid to the pneumococcal immunization in children with nephrotic syndrome.


Assuntos
Hospitalização/estatística & dados numéricos , Infecções/epidemiologia , Infecções/mortalidade , Síndrome Nefrótica/complicações , Albuminas/análise , Celulite (Flegmão)/complicações , Celulite (Flegmão)/epidemiologia , Celulite (Flegmão)/microbiologia , Criança , Pré-Escolar , Feminino , Hospitalização/tendências , Humanos , Imunossupressores/efeitos adversos , Incidência , Índia/epidemiologia , Infecções/etiologia , Masculino , Insuficiência de Múltiplos Órgãos/epidemiologia , Insuficiência de Múltiplos Órgãos/mortalidade , Síndrome Nefrótica/diagnóstico , Peritonite/sangue , Peritonite/complicações , Peritonite/epidemiologia , Peritonite/microbiologia , Pneumonia/complicações , Pneumonia/epidemiologia , Pneumonia/microbiologia , Estudos Prospectivos , Fatores de Risco , Sepse/epidemiologia , Sepse/mortalidade , Streptococcus pneumoniae/isolamento & purificação , Infecções Urinárias/complicações , Infecções Urinárias/epidemiologia , Infecções Urinárias/microbiologia
16.
J Stroke Cerebrovasc Dis ; 28(11): 104322, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31427188

RESUMO

BACKGROUND: To determine if the nephrotic syndrome (NS) is an independent risk factor of ischemic stroke. METHODS: This is a retrospective nationwide cohort study through an analysis of the National Health Insurance Research Database in Taiwan. To evaluate the risk of stroke, the corresponding controls were selected at a 4:1 ratio in the number of subjects, and they were matched with the study group in age, gender, Charlson comorbidity index (CCI), and index date. RESULTS: From a total of 16,245 surveyed subjects, ischemic stroke occurred in 1235 (7.6%) and hemorrhagic stroke in 129 (.74%) of them. The incidence of ischemic stroke was significantly higher in patients with NS (n = 3496) compared to control patients without NS (n = 13,984) (9.92 versus 7.10, per 1000 person-year, P < .001). In the multivariate analysis, the overall adjusted hazard ratio (aHR) of stroke in NS patients was 1.37 (95% CI, 1.21-1.54, P < .001). The risk factors of ischemic stroke were NS (aHR, 1.38 [95% confidence interval {CI}, 1.21-1.57]; P < .001), age greater than 45 years (aHR, 7.98 [95% CI, 6.47-9.48]; P < .001), male gender (aHR, 1.23 [95% CI, 1.10-1.38]; P < .001), CCI greater than or equal to 1 (aHR ≥ 1.25 in different CCI score groups, all at P ≤ .003), ischemic heart disease (aHR, 1.95 [95% CI, 1.67-2.29]; P < .001), heart failure (HR, 1.77 [95% CI, 1.30-2.42]; P < .001). Risk factors of hemorrhagic stroke were those aged greater than 45 years, or with systemic lupus erythematosus, but not NS. CONCLUSIONS: We provided the first evidence that patients with NS had an increased risk of ischemic stroke.


Assuntos
Isquemia Encefálica/epidemiologia , Hemorragias Intracranianas/epidemiologia , Síndrome Nefrótica/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Adolescente , Adulto , Fatores Etários , Isquemia Encefálica/diagnóstico , Comorbidade , Bases de Dados Factuais , Feminino , Humanos , Incidência , Hemorragias Intracranianas/diagnóstico , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/diagnóstico , Sistema de Registros , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores Sexuais , Acidente Vascular Cerebral/diagnóstico , Taiwan/epidemiologia , Adulto Jovem
17.
Saudi J Kidney Dis Transpl ; 30(4): 769-774, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31464232

RESUMO

Nephrotic syndrome (NS) is one of the most common kidney diseases seen in children. It is a disorder characterized by severe proteinuria, hypoproteinemia, hyperlipidemia, and generalized edema resulting from alterations of permeability at the glomerular capillary wall. Endothelin-1 (ET1) has a central role in the pathogenesis of proteinuria and glomerulosclerosis and has a role in assessment of the clinical course of NS in children. This study aims to investigate the relationship between ET1 serum level and the response to steroid therapy in children with primary NS. Serum ET1 levels were evaluated in 55 children with NS. They were classified into two groups: 30 patients with steroid-sensitive NS (SSNS) and 25 patients with steroid-resistant NS (SRNS). The SSNS group was further divided into infrequent-relapsing NS (IFRNS) and steroid-dependent NS (SDNS), while the SRNS group was subdivided into two groups according to renal pathology. ET1 levels were significantly higher in the SRNS group (52.5 ± 45.8 pg/dL) compared to the SSNS group (18.3 ± 17 pg/dL) (P <0.001). Furthermore, ET1 levels were significantly higher in SDNS (54.3 ± 18.6) compared to IFRNS (11.9 ± 7.8, P = 0.001). There was no statistically significant difference in ET1 levels between minimal change disease group and focal segmental glomerulosclerosis group, (P = 0.28). Serum ET1 can be considered as a predictor for response to steroid therapy.


Assuntos
Endotelina-1/sangue , Glomerulosclerose Segmentar e Focal/tratamento farmacológico , Nefrose Lipoide/tratamento farmacológico , Síndrome Nefrótica/congênito , Esteroides/uso terapêutico , Idade de Início , Biomarcadores/sangue , Criança , Pré-Escolar , Resistência a Medicamentos , Feminino , Glomerulosclerose Segmentar e Focal/sangue , Glomerulosclerose Segmentar e Focal/diagnóstico , Humanos , Masculino , Nefrose Lipoide/sangue , Nefrose Lipoide/diagnóstico , Síndrome Nefrótica/sangue , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/tratamento farmacológico , Recidiva , Indução de Remissão , Esteroides/efeitos adversos , Resultado do Tratamento , Regulação para Cima
18.
Saudi J Kidney Dis Transpl ; 30(4): 978-981, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31464259

RESUMO

Melanonychia is described as a brown to black pigmentation of nail, due to stimulation and hyperplasia of nail matrix. Various systemic disorders, trauma, inflammatory disorders, fungal infections, drugs, benign melanocytic hyperplasia, etc., are responsible for this condition, and most of them are benign. A number of chemotherapeutic agents can cause melanonychia. Cases of cyclophosphamide-induced melanonychia are not frequent. We report a 38-year-old female, a known case of steroid dependent nephrotic syndrome, who developed melanonychia on starting treatment with cyclophosphamide. It is a benign condition, which resolves on discontinuation of the drug.


Assuntos
Ciclofosfamida/efeitos adversos , Melaninas/metabolismo , Doenças da Unha/induzido quimicamente , Unhas/efeitos dos fármacos , Síndrome Nefrótica/tratamento farmacológico , Transtornos da Pigmentação/induzido quimicamente , Esteroides/uso terapêutico , Adulto , Feminino , Humanos , Doenças da Unha/diagnóstico , Doenças da Unha/metabolismo , Unhas/metabolismo , Síndrome Nefrótica/diagnóstico , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/metabolismo
19.
Kidney Blood Press Res ; 44(4): 754-764, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31387105

RESUMO

BACKGROUND: Henoch-Schönlein purpura nephritis (HSPN) is a common vasculitis involving the kidneys, with a lower incidence in adults. Meanwhile, nephrotic syndrome (NS) can appear in HSPN. However, the clinicopathological features and renal outcome of adult-onset HSPN presenting with NS (NS-HSPN) have not been well clarified. METHODS: A total of 191 HSPN patients were prospectively analyzed and comparisons were made between NS-HSPN and non-NS-HSPN. Multivariate Cox regression analysis was carried out to find the unfavorable factors of renal outcome of NS-HSPN. RESULTS: Among the 191 patients, 44 (23.0%) had NS-HSPN. Apart from edema and abdominal pain, patients with NS-HSPN tended to have lower levels of erythrocytes and hemoglobulin in blood as well as a greater number of erythrocytes in urine (p < 0.05). Mesangial proliferation was the most common pathological lesion in HSPN and the rates of crescent formation were significantly different, with 54.5% in NS-HSPN and 33.3% in non-NS-HSPN (p < 0.05). Notably, 18.2 and 4.8% of patients reached the composite endpoints in the NS-HSPN and non-NS-HSPN groups, respectively (p < 0.05), demonstrating that NS-HSPN patients were more likely to progress to end-stage renal disease and had a worse outcome. We also found that hypertension, estimated glomerular filtration rate (eGFR), cystatin, and tubular atrophy/interstitial fibrosis (HR > 1, p < 0.05) at onset were correlated with adverse outcome in NS-HSPN. CONCLUSION: NS-HSPN had more severe clinicopathological manifestations and poorer prognosis. The adverse predictors of NS-HSPN principally depend on clinicopathological presentation rather than on different therapies, and hypertension, eGFR, cystatin, and tubular atrophy/interstitial fibrosis can serve as independent risk factors in NS-HSPN.


Assuntos
Síndrome Nefrótica/complicações , Púrpura de Schoenlein-Henoch/complicações , Adolescente , Adulto , Idade de Início , Idoso , Atrofia , Estudos de Casos e Controles , Cistatinas , Fibrose , Taxa de Filtração Glomerular , Humanos , Hipertensão , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/patologia , Prognóstico , Estudos Prospectivos , Púrpura de Schoenlein-Henoch/diagnóstico , Púrpura de Schoenlein-Henoch/patologia , Fatores de Risco , Adulto Jovem
20.
Am J Kidney Dis ; 74(6): 822-836, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31331759

RESUMO

Dysproteinemic kidney diseases occur when B- or plasma cell clones produce pathogenic monoclonal immunoglobulins or light chains that cause kidney damage. The clinical presentation of these disorders ranges from sub-nephrotic-range proteinuria or microscopic hematuria with preserved kidney function to severe nephrotic syndrome to severe acute kidney injury or rapidly progressive glomerulonephritis. These monoclonal immunoglobulins can cause a variety of histologic patterns of injury, including cast nephropathy, glomerular and tubular deposition diseases, amyloidosis, and inflammatory glomerulonephritis. The underlying clonal disorder may meet criteria for overt multiple myeloma or systemic lymphoma. In recent years, there has been increased recognition and study of dysproteinemic kidney diseases that occur in the setting of smaller clonal plasma and B-cell populations, which are classified as monoclonal gammopathies of renal significance. Regardless of clonal cell burden, the goal of treatment is to achieve a hematologic response (ie, improvement or resolution of the monoclonal protein) by eradicating the underlying clone. Organ-specific responses are dependent on achieving hematologic response. Without appropriate treatment, many of these disorders are associated with high rates of progressive kidney disease and end-stage kidney disease. In this installment of AJKD's Core Curriculum in Nephrology, we review the pathogenesis, diagnosis, and treatment of dysproteinemic kidney diseases.


Assuntos
Competência Clínica , Currículo , Educação de Pós-Graduação em Medicina/métodos , Nefrologia/educação , Paraproteinemias/diagnóstico , Paraproteinemias/terapia , Amiloidose/diagnóstico , Amiloidose/terapia , Antineoplásicos/uso terapêutico , Biópsia por Agulha , Feminino , Humanos , Imuno-Histoquímica , Imunossupressores/uso terapêutico , Masculino , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/terapia , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/terapia , Medição de Risco , Resultado do Tratamento
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA