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1.
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
2.
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
4.
Pan Afr Med J ; 32: 161, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31303930

RESUMO

Serum protein electrophoresis (SPE) is a routine analysis in the daily practice of a medical biology laboratory. This study aimed to analyze the different electrophoretic profiles seen in our current practice. We conducted a cross-sectional study of 410 serum samples collected during the routine analyses in the Laboratory of Biochemistry at the University Hospital Mohammed VI in Oujda. Serum protein electrophoresis was performed using automated instrument CAPILLARYS 2 FLEX-PIERCING, SEBIA. 241 sera from women and 169 sera from men were collected. Patients were aged between 1-91 years, with an average age of 49 years; 19.5% of SPEs were normal, hypoalbuminemia was found in 34% of cases, chronic inflammatory syndrome in 19.5% of cases, nephrotic syndrome in 2% of cases, 5.8% of our patients had betagamma block, hypogammaglobulinemia was found in 8.5% of cases and 29 monoclonal peaks were noted, bisalbuminemia was found in 2 patients. Out of 410 collections: 92 immunofixations were performed, of whom 23 were positive (showing monoclonal gammopathy). This study highlights the variability in prescribing serum protein electrophoresis as well as the importance of clinical data for a better interpretation.


Assuntos
Eletroforese das Proteínas Sanguíneas/métodos , Hipoalbuminemia/diagnóstico , Inflamação/diagnóstico , Paraproteinemias/diagnóstico , Adolescente , Adulto , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos Transversais , Feminino , Hospitais Universitários , Humanos , Hipoalbuminemia/epidemiologia , Lactente , Inflamação/epidemiologia , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/epidemiologia , Paraproteinemias/epidemiologia , Adulto Jovem
6.
BMJ ; 365: l1800, 2019 05 23.
Artigo em Inglês | MEDLINE | ID: mdl-31335316

RESUMO

OBJECTIVE: To determine whether extending initial prednisolone treatment from eight to 16 weeks in children with idiopathic steroid sensitive nephrotic syndrome improves the pattern of disease relapse. DESIGN: Double blind, parallel group, phase III randomised placebo controlled trial, including a cost effectiveness analysis. SETTING: 125 UK National Health Service district general hospitals and tertiary paediatric nephrology centres. PARTICIPANTS: 237 children aged 1-14 years with a first episode of steroid sensitive nephrotic syndrome. INTERVENTIONS: Children were randomised to receive an extended 16 week course of prednisolone (total dose 3150 mg/m2) or a standard eight week course of prednisolone (total dose 2240 mg/m2). The drug was supplied as 5 mg tablets alongside matching placebo so that participants in both groups received the same number of tablets at any time point in the study. A minimisation algorithm ensured balanced treatment allocation by ethnicity (South Asian, white, or other) and age (5 years or less, 6 years or more). MAIN OUTCOME MEASURES: The primary outcome measure was time to first relapse over a minimum follow-up of 24 months. Secondary outcome measures were relapse rate, incidence of frequently relapsing nephrotic syndrome and steroid dependent nephrotic syndrome, use of alternative immunosuppressive treatment, rates of adverse events, behavioural change using the Achenbach child behaviour checklist, quality adjusted life years, and cost effectiveness from a healthcare perspective. Analysis was by intention to treat. RESULTS: No significant difference was found in time to first relapse (hazard ratio 0.87, 95% confidence interval 0.65 to 1.17, log rank P=0.28) or in the incidence of frequently relapsing nephrotic syndrome (extended course 60/114 (53%) v standard course 55/109 (50%), P=0.75), steroid dependent nephrotic syndrome (48/114 (42%) v 48/109 (44%), P=0.77), or requirement for alternative immunosuppressive treatment (62/114 (54%) v 61/109 (56%), P=0.81). Total prednisolone dose after completion of the trial drug was 6674 mg for the extended course versus 5475 mg for the standard course (P=0.07). There were no statistically significant differences in serious adverse event rates (extended course 19/114 (17%) v standard course 27/109 (25%), P=0.13) or adverse event rates, with the exception of behaviour, which was poorer in the standard course group. Scores on the Achenbach child behaviour checklist did not, however, differ. Extended course treatment was associated with a mean increase in generic quality of life (0.0162 additional quality adjusted life years, 95% confidence interval -0.005 to 0.037) and cost savings (difference -£1673 ($2160; €1930), 95% confidence interval -£3455 to £109). CONCLUSIONS: Clinical outcomes did not improve when the initial course of prednisolone treatment was extended from eight to 16 weeks in UK children with steroid sensitive nephrotic syndrome. However, evidence was found of a short term health economic benefit through reduced resource use and increased quality of life. TRIAL REGISTRATION: ISRCTN16645249; EudraCT 2010-022489-29.


Assuntos
Assistência de Longa Duração , Síndrome Nefrótica , Prednisolona , Qualidade de Vida , Prevenção Secundária , Adolescente , Criança , Pré-Escolar , Análise Custo-Benefício , Relação Dose-Resposta a Droga , Método Duplo-Cego , Esquema de Medicação , Monitoramento de Medicamentos/métodos , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/efeitos adversos , Glucocorticoides/economia , Humanos , Imunossupressores/uso terapêutico , Lactente , Análise de Intenção de Tratamento , Assistência de Longa Duração/economia , Assistência de Longa Duração/métodos , Masculino , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/economia , Síndrome Nefrótica/psicologia , Prednisolona/administração & dosagem , Prednisolona/efeitos adversos , Prednisolona/economia , Prevenção Secundária/economia , Prevenção Secundária/métodos , Resultado do Tratamento
7.
Hum Genet ; 138(10): 1105-1115, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31230195

RESUMO

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33-34) has been implicated in vesicoureteral reflux (VUR), but mutations in COL4A1 have not been reported in CAKUT. We hypothesized that COL4A1 mutations cause CAKUT in humans. We performed whole exome sequencing (WES) in 550 families with CAKUT. As negative control cohorts we used WES sequencing data from patients with nephronophthisis (NPHP) with no genetic cause identified (n = 257) and with nephrotic syndrome (NS) due to monogenic causes (n = 100). We identified a not previously reported heterozygous missense variant in COL4A1 in three siblings with isolated VUR. When examining 549 families with CAKUT, we identified nine additional different heterozygous missense mutations in COL4A1 in 11 individuals from 11 unrelated families with CAKUT, while no COL4A1 mutations were identified in a control cohort with NPHP and only one in the cohort with NS. Most individuals (12/14) had isolated CAKUT with no extrarenal features. The predominant phenotype was VUR (9/14). There were no clinical features of the COL4A1-related disorders (e.g., HANAC syndrome, porencephaly, tortuosity of retinal arteries). Whereas COL4A1-related disorders are typically caused by glycine substitutions in the collagenous domain (84.4% of variants), only one variant in our cohort is a glycine substitution within the collagenous domain (1/10). We identified heterozygous COL4A1 mutations as a potential novel autosomal dominant cause of CAKUT that is allelic to the established COL4A1-related disorders and predominantly caused by non-glycine substitutions.


Assuntos
Colágeno Tipo IV/genética , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Rim/anormalidades , Mutação , Fenótipo , Sistema Urinário/anormalidades , Alelos , Substituição de Aminoácidos , Biologia Computacional/métodos , Análise Mutacional de DNA , Bases de Dados Genéticas , Evolução Molecular , Feminino , Estudos de Associação Genética , Loci Gênicos , Genômica/métodos , Heterozigoto , Humanos , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Masculino , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/genética , Navegador , Sequenciamento Completo do Exoma
8.
ScientificWorldJournal ; 2019: 4274856, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31210755

RESUMO

Background: Accumulation of extracellular water (ECW) is a major clinical manifestation of nephrotic syndrome (NS) in children. Bioimpedance spectroscopy (BIS) is a simple, noninvasive technique that reflects body water volumes. BIS can further measure cell membrane capacitance (CM), which may be altered in NS. The aims of the study were to explore how BIS measurements could reflect disease status in NS, while avoiding prediction equations which are often only validated in adult populations. Methods: The study involved 8 children (2-10 years) with active NS (ANS group), 5 of which were also studied at NS remission (NSR group), as well as 38 healthy children of similar age (HC group). BIS measurements determined resistances RINF, RE, and RI (reflecting total body water, extracellular water, and intracellular water) and CM. Also resistance indices based on height (H) were considered, RI = H2/R. Results: It was found that RE and RINF were significantly lower in the ANS group than in both NSR and HC groups (p < 0.001). Corresponding resistance indices were significantly higher in the ANS group than in the NSR (p < 0.01) and the HC (p < 0.05) groups, in accordance with elevated water volumes in NS patients. Indices of intracellular water were not significantly different between groups. CM was significantly lower in the ANS group than in NSR and HC groups (p < 0.05). Conclusion: BIS could distinguish children with active NS from well-treated and healthy children. Studies with more children are warranted.


Assuntos
Membrana Celular/metabolismo , Impedância Elétrica , Fenômenos Eletrofisiológicos , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/metabolismo , Antropometria , Biomarcadores , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome Nefrótica/diagnóstico , Índice de Gravidade de Doença , Análise Espectral
9.
Klin Lab Diagn ; 64(4): 196-203, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31108030

RESUMO

To study and analyze the cardiorenal relationships in nephrotic syndrome, taking into account sex differences. A total of 272 patients with nephrotic syndrome (NS) aged 16 to 65 years were examined. All patients underwent general clinical examination, electro-and echocardiography, assessment of peripheral and biochemical blood counts. NS was determined with daily proteinuria of more than 3.5 g/1.73 m2 per day, hypoalbuminemia (albumin less than 30 g/l) and hyperlipidemia (total cholesterol more than 5.1 mmol/l). The duration of the National Assembly ranged from 3 months or more. Depending on the gender, the total sample (n=272) was divided into two subgroups: the 1st subgroup - patients with female NS (n=88), the 2nd subgroup - males with NS (n=184). The mean systolic, diastolic, pulse and mean arterial pressure (BP) were significantly higher in male NS patients (p<0.05). Supraventricular and ventricular ectopic activity was significantly more common in males. In the subgroup of women with NA, sinus tachycardia was significantly more frequently detected, a slowing down of the impulse conduction along the bundle of His, a violation of the processes of repolarization of the LV (p<0.05). The final systolic and diastolic sizes of the left ventricle (LV), the thickness of the interventricular septum and the posterior wall of the left ventricle, the diameter of the aorta, the longitudinal size of the left atrium and the right ventricle were significantly larger in the group of males with NA. Significantly lower concentrations of hemoglobin, hematocrit, erythrocyte counts were observed in the subgroup of females with NS compared with men (p<0.05). In the cohort of men with HC, there was a significant decrease in the content of total serum protein (44.8±11.0 g/l versus 49.2±11.2 g/l; p=0.003) as compared with females. In the male subgroup of HC, serum creatinine concentration [97 (81;143) mmol/l versus 86 (68;123) mmol/l; p=0.005] and the degree of daily protein excretion [6,490 (4,865;9,661) g versus 5,585 (4,168;7,625) g; p=0.034] with urine were significantly higher compared with the female subgroup (Table 2). At the same time, in the cohort of men with HC, there was a significant decrease in the calculated GFR [62.3 (46.2; 114.9) ml/min versus 87.0 (67.7;127.5) ml/min; p=0.002]. In case of NS in females, factors of deterioration of cardiorenal interrelations are anemia, sinus tachycardia, slowing down of impulse conduction along the bundle of His. Whereas in the NA subgroup of men, negative factors of cardiorenal interrelations are hypoproteinemia, increased systolic, diastolic, pulse and mean blood pressure, creatinine concentration and daily proteinuria, which was accompanied by a decrease in glomerular filtration rate and an increase in the linear dimensions of the heart.


Assuntos
Miocárdio/patologia , Síndrome Nefrótica/complicações , Fatores Sexuais , Taquicardia/complicações , Adolescente , Adulto , Idoso , Pressão Sanguínea , Fascículo Atrioventricular/fisiopatologia , Creatinina/sangue , Feminino , Taxa de Filtração Glomerular , Coração , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/diagnóstico , Proteinúria/diagnóstico , Adulto Jovem
10.
Praxis (Bern 1994) ; 108(5): 347-355, 2019.
Artigo em Alemão | MEDLINE | ID: mdl-30940036

RESUMO

CME: Nephrotic Syndrome in Adults: Presentation, Diagnosis, Therapy Abstract. The nephrotic syndrome is defined by renal protein loss with hypalbuminaemia and edema. Hyperlipoproteinemia and thrombophilia are not diagnostic criteria, but are frequently associated conditions. Patients with nephrotic syndrome are at higher risk for infections. Primary causes of a nephrotic syndrome are differentiated from secondary glomerulopathies due to systemic diseases. To confirm the diagnosis and for prognostic reasons, a kidney biopsy is performed in most cases. Steroids and other immunosuppressive agents are frontline therapies in primary forms. Secondary forms are treated by addressing the underlying disease. Therapeutic cornerstones include an adequate RAAS blockade with ACE inhibitors or AT-II receptor blockers. Loop diuretics are used to control edemas. In addition, the need for anticoagulation and statin therapy must be evaluated.


Assuntos
Síndrome Nefrótica , Adulto , Inibidores da Enzima Conversora de Angiotensina , Edema , Humanos , Rim , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/terapia
11.
Internist (Berl) ; 60(5): 450-457, 2019 05.
Artigo em Alemão | MEDLINE | ID: mdl-30887070

RESUMO

Minimal change disease (MCD) or minimal change glomerulonephritis and focal segmental glomerulosclerosis (FSGS) are the two major causes of nephrotic syndrome in children and young adults. Both disease entities resemble each other and can sometimes only be discriminated on the basis of their clinical courses. MCD and FSGS display two classical examples that share a common pathophysiology in which the glomerular podocyte and the cytoskeleton of its foot processes play important roles. Therefore, the term "podocytopathy" was introduced for both diseases. In this article, we compare their differences and similarities, and summarized new data on pathophysiology and treatment. In adults, only a renal biopsy including electron microscopy allows for the discrimination of MCD and FSGS and other differential diagnoses. The identification of a primary or secondary form of the disease is based on the clinical course. Data from studies on the treatment are sparse; hence, treatment is still based on high-dose steroids followed by additional immunosuppressive agents. In secondary forms, treatment of the underlying disease is elementary.


Assuntos
Glomerulosclerose Segmentar e Focal/diagnóstico , Rim/patologia , Nefrose Lipoide/diagnóstico , Síndrome Nefrótica/diagnóstico , Criança , Glomerulosclerose Segmentar e Focal/complicações , Glomerulosclerose Segmentar e Focal/tratamento farmacológico , Humanos , Imuno-Histoquímica , Imunossupressores/uso terapêutico , Nefrose Lipoide/complicações , Nefrose Lipoide/tratamento farmacológico , Síndrome Nefrótica/complicações , Síndrome Nefrótica/tratamento farmacológico , Esteroides/uso terapêutico , Adulto Jovem
12.
J Pediatr Adolesc Gynecol ; 32(3): 337-338, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30742909

RESUMO

BACKGROUND: We present the case of an adolescent girl with prominent clitoral swelling as the first symptom when she presented to the emergency department, and who was subsequently diagnosed with nephrotic syndrome. CASE: A 14-year-old adolescent girl was admitted with painless clitoral swelling. She denied recent masturbation, itching, or discharge. She was within the last few days of menstruation. Physical examination revealed clitoral edema without erythema or genital edema. Urine dipstick test and microscopic evaluation revealed protein 2+, blood 3+, abundant erythrocytes and 9-10 leukocytes. A few days later, additional clinical findings, such as pretibial and facial edema, were diagnosed as nephrotic syndrome. SUMMARY AND CONCLUSION: This case is a reminder that clitoral swelling is to be considered a sign in the diagnosis of nephrotic syndrome, even when it occurs alone.


Assuntos
Clitóris/patologia , Edema/etiologia , Síndrome Nefrótica/diagnóstico , Adolescente , Feminino , Humanos , Síndrome Nefrótica/sangue , Síndrome Nefrótica/complicações
14.
BMJ Case Rep ; 12(1)2019 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-30635300

RESUMO

We report a 63-year-old man with well-controlled type 2 diabetes mellitus and hypertension, who presented with new onset nephrotic proteinuria and rapid deterioration in renal function. The atypical clinical presentation prompted us to consider a non-diabetic and non-hypertensive cause and to perform a renal biopsy. A diagnosis of fibrillarglomerulonephritis (FGn) was made based on electronic microscopy. Proteinuria remained in nephrotic range despite treatment with prednisolone, and renal function deteriorated. We suggest that other causes of proteinuria should be considered in patients with diabetes who present with the nephrotic syndrome when there is no other evidence of microvascular disease. We review the spectrum of fibrillar glomerulopathies including FGn, primary and secondary amyloidosis and immunotactoid glomerulonephritis.


Assuntos
Glomerulonefrite/patologia , Síndrome Nefrótica/diagnóstico , Proteinúria/diagnóstico , Amiloidose/diagnóstico , Biópsia/métodos , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Glucocorticoides/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/patologia , Prednisolona/administração & dosagem , Prednisolona/uso terapêutico , Proteinúria/etiologia , Doenças Raras , Resultado do Tratamento , Dispositivos de Acesso Vascular/normas
15.
J Am Soc Nephrol ; 30(2): 187-200, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30642877

RESUMO

Inhibition of vascular endothelial growth factor A (VEGFA)/vascular endothelial growth factor receptor 2 (VEGFR2) signaling is a common therapeutic strategy in oncology, with new drugs continuously in development. In this review, we consider the experimental and clinical evidence behind the diverse nephrotoxicities associated with the inhibition of this pathway. We also review the renal effects of VEGF inhibition's mediation of key downstream signaling pathways, specifically MAPK/ERK1/2, endothelial nitric oxide synthase, and mammalian target of rapamycin (mTOR). Direct VEGFA inhibition via antibody binding or VEGF trap (a soluble decoy receptor) is associated with renal-specific thrombotic microangiopathy (TMA). Reports also indicate that tyrosine kinase inhibition of the VEGF receptors is preferentially associated with glomerulopathies such as minimal change disease and FSGS. Inhibition of the downstream pathway RAF/MAPK/ERK has largely been associated with tubulointerstitial injury. Inhibition of mTOR is most commonly associated with albuminuria and podocyte injury, but has also been linked to renal-specific TMA. In all, we review the experimentally validated mechanisms by which VEGFA-VEGFR2 inhibitors contribute to nephrotoxicity, as well as the wide range of clinical manifestations that have been reported with their use. We also highlight potential avenues for future research to elucidate mechanisms for minimizing nephrotoxicity while maintaining therapeutic efficacy.


Assuntos
Bevacizumab/uso terapêutico , Terapia de Alvo Molecular/métodos , Síndrome Nefrótica/tratamento farmacológico , Inibidores de Proteínas Quinases/uso terapêutico , Receptores de Fatores de Crescimento do Endotélio Vascular/uso terapêutico , Proteínas Recombinantes de Fusão/uso terapêutico , Fator A de Crescimento do Endotélio Vascular/genética , Animais , Modelos Animais de Doenças , Feminino , Humanos , Masculino , Camundongos , Síndrome Nefrótica/diagnóstico , Prognóstico , Ensaios Clínicos Controlados Aleatórios como Assunto , Receptores de Fatores de Crescimento do Endotélio Vascular/efeitos dos fármacos , Receptores de Fatores de Crescimento do Endotélio Vascular/genética , Transdução de Sinais , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/efeitos dos fármacos
16.
Pediatr Clin North Am ; 66(1): 73-85, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30454752

RESUMO

Nephrotic syndrome is characterized by edema, proteinuria, hypoalbuminemia, and hyperlipidemia. Minimal change disease, the most common cause in childhood, generally responds to corticosteroids, although most patients experience disease relapses. Focal segmental glomerulosclerosis is usually resistant to corticosteroids and carries a significant risk of kidney failure, necessitating renal transplantation. Nephrotic syndrome may also be secondary to gene mutations and systemic diseases such as lupus. Clinical evaluation involves distinguishing primary and secondary causes and monitoring for disease complications, including blood clots and serious infections such as spontaneous bacterial peritonitis. Immunosuppressive medications are used to prevent relapses and treat corticosteroid-resistant disease.


Assuntos
Corticosteroides/uso terapêutico , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/tratamento farmacológico , Criança , Diagnóstico Diferencial , Humanos , Síndrome Nefrótica/etiologia , Fatores de Risco
18.
Clin Exp Nephrol ; 23(5): 669-675, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30584653

RESUMO

BACKGROUND: Recently, comprehensive genetic approaches for steroid-resistant nephrotic syndrome (SRNS) using next-generation sequencing (NGS) have been established, but causative gene mutations could not be detected in almost 70% of SRNS patients. Main reason for the low variant detection rate is that most of them are SRNS caused not by genetic but by immunological factors. But some of them are probably because of the difficulty of detecting copy number variations (CNVs) in causative genes by NGS. METHODS: In this study, we performed two analytical methods of NGS data-dependent pair analysis and custom array comparative genomic hybridization (aCGH) in addition to NGS analysis in an infantile nephrotic syndrome case. RESULTS: We detected only one known pathogenic heterozygous missense mutation in exon 7 of COQ6 c.782C > T, p.(Pro261Leu) by NGS. With pair analysis, heterozygous exon 1-2 deletion was suspected and was confirmed by custom aCGH. As a result, a small CNV was successfully detected in the COQ6 gene. Because we could detect variants in COQ6 and could start treatment by coenzyme Q10 (CoQ10) in his very early stage of SRNS, the patient achieved complete remission. CONCLUSIONS: These relatively novel methods should be adopted in cases with negative results in gene tests by NGS analysis. Especially, in cases with CoQ10 deficiency, it is possible to delay initiating dialysis by starting treatment at their early stages.


Assuntos
Rim/patologia , Síndrome Nefrótica/genética , Ubiquinona/genética , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA , Humanos , Lactente , Masculino , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/patologia , Análise de Sequência de DNA
19.
Medicine (Baltimore) ; 97(41): e12349, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30313030

RESUMO

RATIONALE: Chronic thromboembolic pulmonary hypertension (CTEPH) is rare in children and determining the underlying etiologies is essential for treatment. Venous thromboembolism, a well-known complication in nephrotic syndrome (NS), always occurrs during the treatment in course of the disease. However, CTEPH as the first manifestation of NS has not been reported till now. PATIENT CONCERNS: A 12-year-old boy initially complained of hemoptysis, cough and shortness of breath with exertion, any symptoms regarding NS such as edema were not presented. Due to the identification of P2 enhancement, liver enlargement (2 cm below the rib) and jugular vein distension, pulmonary hypertension (PH) was firstly suspected and ultimately confirmed by detection of enlargement of right atrium (RA) and right ventricle (RV) enlargement (RA = 45mm, RV = 30mm), mild tricuspid valve regurgitation (TR) and elevation of pulmonary arterial pressure (63 mmHg) on echocardiogram. In order to search the underlying causes of PH, series of targeted laboratory evaluation and imaging were conducted, and pulmonary arterial embolism (PE) in inferior lobes of double lungs was found on chest contrast-enhanced computed tomography. DIAGNOSIS: NS was unexpectedly discovered by detection of lower serum albumin level (24.4 g/L), severe proteinuria (+++, 4.62 g/24 h) when we were searching for the predisposing factors causing thromboembolism. INTERVENTIONS AND OUTCOMES: After treatment of NS, the symptom regarding shortness of breath with exertion gradually became less apparent and was relieved one month later. Proteinuria and microscopic hematuria also disappeared. Encouragingly, RA and RV dilation, and the pulmonary arterial pressure almost returned to a normal range half a year later, with alleviation of MR. LESSONS: CTEPH can occur rarely in children and NS is an important predisposing factor. PE could be the first manifestation of NS. When pediatricians encounter children with PE or CTEPH, NS as the underlying etiology should be considered. Except for renal venous thrombosis, the possibility of PE needs to be paid more attention in children with NS.


Assuntos
Hipertensão Pulmonar/etiologia , Síndrome Nefrótica/diagnóstico , Embolia Pulmonar/etiologia , Criança , Doença Crônica , Humanos , Hipertensão Pulmonar/diagnóstico , Masculino , Síndrome Nefrótica/complicações , Embolia Pulmonar/diagnóstico
20.
BMC Ophthalmol ; 18(1): 234, 2018 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-30176830

RESUMO

BACKGROUND: Nocardia infection is uncommon in clinical practice, with most cases occuring as the result of opportunistic infection in immunocompromsed patients. Here, we report a case of disseminated nocardiosis with subretinal abscess in a patient with nephrotic syndrome, and whom is receiving immunosuppressive therapy. CASE PRESENTATION: A 58-year-old male presented with decreased vision in his left eye, without redness or floaters, which had persisted for three days. The patient had previously been diagnosed with membranous nephropathy, and as such, had received systemic corticosteroid therapy for four months. Further, the patient had developed pneumonia three weeks prior to this presentation. The ocular lesion appeared as a creamy-white subretinal abscess, with overlying retinal hemorrhages. Subsequent administration of three intravitreal injections of vancomycin and ceftazidime ultimately led to eradication of the intraocular infection, however, two months later, the patient developed a brain abcess. Pathogens isolated from the blood were subsequently identified as Nocardia. The patient was successfully treated via systemic administration of imipenem and trimethoprim-sulfamethoxazole. CONCLUSIONS: Clinicians should be aware of the possibility of Nocardia infections within all immunocompromised patients, as well as the tendency of this infection to disseminate--particularly in the brain. The early detection of Nocardia infections and prolonged treatment of the proper antibiotics may significantly improve the prognosis of this life-threatening infection.


Assuntos
Abscesso/diagnóstico , Infecções Oculares Bacterianas/diagnóstico , Hospedeiro Imunocomprometido , Síndrome Nefrótica/complicações , Nocardiose/diagnóstico , Nocardia/isolamento & purificação , Doenças Retinianas/diagnóstico , Abscesso/etiologia , Infecções Oculares Bacterianas/etiologia , Infecções Oculares Bacterianas/microbiologia , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/imunologia , Nocardiose/etiologia , Nocardiose/microbiologia , Doenças Retinianas/etiologia , Doenças Retinianas/microbiologia , Tomografia de Coerência Óptica , Tomografia Computadorizada por Raios X
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