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1.
Medicine (Baltimore) ; 99(27): e21056, 2020 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-32629733

RESUMO

Primary nephrotic syndrome (PNS) is one of the most common primary glomerular diseases in children. Patients complicated nephrotic syndrome with pancreatic lesions are rarely reported, and the clinical manifestations in children are atypical. This study has observed the incidence, clinical types, and prognosis of acute pancreatitis (AP) in children with primary nephrotic syndrome, and analyzed its related factors, early diagnosis, and treatment.Seven children with PNS and AP in Shanghai Children's Hospital from January 2015 to December 2017 were reviewed. The clinical data including age, height, weight, body mass index (BMI), diet, biliary tract disease, PNS durations, drugs, proteinuria, creatinine, glucose, glycated hemoglobin, amylase and lipase, albumin, cholesterol, triglyceride, ultrasound, computerized tomography (CT), renal pathology and estimated glomerular filtration rate (eGFR) were retrospectively analyzed. All patients were followed for >2 years.Ten in 589 patients with PNS were detected pancreatic lesions by abdominal ultrasound. Seven were diagnosed as AP, which the incidence was 1.2%. Only 1 of 7 patients had elevated serum amylase. Lesions of pancreas were found by ultrasound and/or enhanced CT. Four of 7 patients had been treated with tacrolimus. All patients with AP were improved after octreotide acetate injection and supportive treatment. Only 1 patient suffered recurrent AP during the relapse of PNS 10 months later.AP in children with PNS is not common, and the clinical manifestations are not typical. Abdominal ultrasound and enhanced CT are of high value in diagnosis. The adverse effects of tacrolimus should be concerned. Early diagnosis and timely treatment can be helpful for a prognosis.


Assuntos
Rim/patologia , Síndrome Nefrótica/complicações , Síndrome Nefrótica/metabolismo , Pancreatite/metabolismo , Adolescente , Criança , Pré-Escolar , China/epidemiologia , Feminino , Fármacos Gastrointestinais/administração & dosagem , Fármacos Gastrointestinais/uso terapêutico , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Incidência , Masculino , Síndrome Nefrótica/diagnóstico por imagem , Síndrome Nefrótica/fisiopatologia , Octreotida/administração & dosagem , Octreotida/uso terapêutico , Pancreatite/diagnóstico por imagem , Pancreatite/tratamento farmacológico , Pancreatite/epidemiologia , Prognóstico , Recidiva , Estudos Retrospectivos , Tacrolimo/efeitos adversos , Tacrolimo/uso terapêutico
2.
Brain Dev ; 42(5): 408-413, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32115305

RESUMO

INTRODUCTION: Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropathy and T-cell deficiency. Neurologic manifestations include microcephaly, cognitive impairment, migraine-like headaches and cerebrovascular manifestations such as cerebral atherosclerotic vascular disease and reversible cerebral vasoconstriction. The role of SMARCAL1 deficiency in non-vascular neurological complications is still under debate. Epilepsy has been reported in a few patients, even in the absence of brain abnormalities. Data regarding electroencephalographic (EEG) patterns in SIOD are scarce METHODS: We describe the clinical, neuroradiological and EEG findings in two unrelated patients with SIOD showing a peculiar pseudo-periodic EEG pattern apparently not related to the cerebrovascular complications, since it was recognized both before and after cerebrovascular events CONCLUSION: Our observations support the hypothesis that SMARCAL1plays an important role in neurodevelopment and brain function and expand the spectrum of neurological abnormalities related to SIOD.


Assuntos
Arteriosclerose/fisiopatologia , Encéfalo/fisiopatologia , Síndrome Nefrótica/fisiopatologia , Osteocondrodisplasias/fisiopatologia , Doenças da Imunodeficiência Primária/fisiopatologia , Embolia Pulmonar/fisiopatologia , Arteriosclerose/genética , Criança , DNA Helicases/genética , Eletroencefalografia , Feminino , Humanos , Mutação , Síndrome Nefrótica/genética , Osteocondrodisplasias/genética , Fenótipo , Doenças da Imunodeficiência Primária/genética , Embolia Pulmonar/genética , Adulto Jovem
3.
Atherosclerosis ; 295: 38-44, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-32004823

RESUMO

BACKGROUND AND AIMS: The effect of nephrotic syndrome (NS) and its treatment on endothelial dysfunction is not evident. This study assessed endothelial dysfunction in adult-onset NS and its impact of immunosuppressive therapy. METHODS: Newly diagnosed patients with adult-onset NS (podocytopathy and primary membranous nephropathy (PMN)) and normal renal function were enrolled. Flow mediated vasodilatation (FMD) assessed endothelial function and CD4+CD28null T cells, E-selectin and pulse wave velocities (PWV) were measured at baseline and after treatment to characterize this further. Monitoring included monthly proteinuria, serum albumin, creatinine and lipid profile at baseline and post-treatment. The healthy control (HC) included 25 voluntary kidney donors who were assessed for markers of endothelial dysfunction. RESULTS: Fifty participants with new-onset NS were studied. Amongst the NS group, 26 (52%) patients had PMN, while the remaining 24 (48%) had podocytopathy. Twenty-one (88%) patients in the podocytopathy and 18 (69%) patients in the PMN cohort were in either complete or partial remission at the end of 8 months. FMD at baseline in NS patients was significantly lower as compared to HC (p = 0.002) while PWV (p = 0.007), E-selectin (p < 0.001) and CD4+CD28null T cells (p = 0.003) were significantly higher as compared with HC. Following treatment with immunosuppressive medication, FMD increased from 3 to 8% (p < 0.001). PWV also improved from a baseline of 7.70 to 6.65 m/s (p = 0.001). At the end of 8 months, E-selectin decreased significantly from 127 to 82 ng/ml (p = 0.002) while the CD4+CD28null T cell population reduced from 5.20 to 3.70% (p = 0.032) of total CD4+ cells. In the PMN cohort, despite significant reduction, E-selectin and CD4+CD28null T cells at follow-up remained higher than in healthy controls. CONCLUSION: Immunosuppressive treatment contributes substantially to the improvement of endothelial dysfunction present at baseline in NS patients. Persistent subtle endothelial dysfunction remains in the sub-group of patients with PMN.


Assuntos
Endotélio Vascular/fisiopatologia , Glomerulonefrite Membranosa/fisiopatologia , Imunossupressores/uso terapêutico , Síndrome Nefrótica/fisiopatologia , Vasodilatação/fisiologia , Adulto , Contagem de Linfócito CD4 , Selectina E , Feminino , Glomerulonefrite Membranosa/complicações , Glomerulonefrite Membranosa/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/complicações , Síndrome Nefrótica/tratamento farmacológico , Estudos Prospectivos , Análise de Onda de Pulso , Adulto Jovem
5.
Eur J Endocrinol ; 182(3): C9-C12, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31972544

RESUMO

Primary adrenal insufficiency (PAI) in children is mostly due to genetic defects. The understanding of the molecular genetics of the causes of adrenal insufficiency in the pediatric population has made significant progress during the last years. It has been shown that inherited PAI can lead to certain clinical manifestations and health problems in children beyond the adrenals. Organ dysfunctions associated with different forms of PAI in children include a wide range of organs such as gonads, brain, heart, bone, growth, bone marrow, kidney, skin, parathyroid, and thyroid. Diagnosing the correct genetic cause of PAI in children is therefore crucial to adequately control long-term treatment and follow-up in such patients.


Assuntos
Doença de Addison/genética , Hiperplasia Suprarrenal Congênita/genética , Doença de Addison/complicações , Doença de Addison/diagnóstico , Doença de Addison/fisiopatologia , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/fisiopatologia , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/fisiopatologia , Encefalopatias/etiologia , Encefalopatias/genética , Encefalopatias/fisiopatologia , Cardiomiopatias/etiologia , Cardiomiopatias/genética , Cardiomiopatias/fisiopatologia , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/fisiopatologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Humanos , Hipoadrenocorticismo Familiar/complicações , Hipoadrenocorticismo Familiar/diagnóstico , Hipoadrenocorticismo Familiar/genética , Hipoadrenocorticismo Familiar/fisiopatologia , Síndromes de Imunodeficiência/etiologia , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Técnicas de Diagnóstico Molecular , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/genética , Síndrome Nefrótica/fisiopatologia , Dermatopatias/etiologia , Dermatopatias/genética , Dermatopatias/fisiopatologia
6.
Expert Rev Clin Pharmacol ; 13(2): 147-156, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31847609

RESUMO

Introduction: Glucocorticoids (GCs) are the first-line therapy for patients with nephrotic syndrome (NS), a common glomerular disease, that cause complete remission in most of the cases. In response to the treatment, NS patients are divided into glucocorticoid-sensitive and -resistant. This variation is due to the differences in pharmacokinetics and pharmacodynamics of GCs in each patient that affect the response to the treatment modality. Since the genetic variations in drug-metabolizing enzymes and transporter proteins significantly impact the pharmacokinetics, efficacy and safety of the applied medications, this review highlights the basic mechanisms of genetic variations involved in GCs metabolism in drug-resistant NS patients.Areas covered: This review explains the pharmacogenetic variations that influence the profile of GCs responses and their pharmacokinetics in NS patients. Moreover, the epigenetic variations including histone modifications and miRNA gene regulation that have an influence on GCs responses will review. A comprehensive literature search was performed using different keywords to the reviewed topics.Expert opinion: The accumulative data suggest the importance of pharmacogenetic studies to develop personalized therapies and increase the GCs responsiveness in these patients. It is imperative to know that genetic testing does not give absolute answers to all existing questions in steroid resistance.


Assuntos
Glucocorticoides/administração & dosagem , Síndrome Nefrótica/tratamento farmacológico , Farmacogenética , Resistência a Medicamentos , Epigênese Genética , Testes Genéticos , Variação Genética , Glucocorticoides/farmacocinética , Glucocorticoides/farmacologia , Humanos , Síndrome Nefrótica/genética , Síndrome Nefrótica/fisiopatologia , Medicina de Precisão , Indução de Remissão
7.
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
8.
Med Sci (Paris) ; 35(8-9): 659-666, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31532378

RESUMO

The renal filtration is ensured by the kidney glomeruli selective for filtering the blood. The main actor of the glomerular filter is the podocyte whose interlaced pedicels bear protein complexes (nephrin, podocin, etc.) creating a molecular sieve (slit diaphragm) to achieve the filtration. Alterations of these podocytes lead to massive proteinuria, which characterizes the nephrotic syndrome. The idiopathic form is one of the most malignant and essentially comprises two entities: minimal change disease and focal segmental glomerulosclerosis. Many observations indicated that (1) immune cells are involved and that (2) there are several permeability factors in the blood that affect the morphology and function of podocytes (slit diaphragm with fractional foot processes fusion/effacement). Evidence for a permeability factor was chiefly derived from remission of proteinuria observed after implantation of a kidney with FSGS in healthy recipients or with other kidney diseases. Today, we are moving towards a multifactorial conception of the nephrotic syndrome where all these barely known factors could be associated according to a sequential kinetic mechanism that needs to be determined.


Assuntos
Células Sanguíneas/fisiologia , Proteínas Sanguíneas/fisiologia , Síndrome Nefrótica/etiologia , Proteínas Sanguíneas/efeitos adversos , Glomerulosclerose Segmentar e Focal/sangue , Glomerulosclerose Segmentar e Focal/complicações , Glomerulosclerose Segmentar e Focal/fisiopatologia , Humanos , Rim/patologia , Rim/fisiologia , Glomérulos Renais/patologia , Glomérulos Renais/fisiologia , Síndrome Nefrótica/sangue , Síndrome Nefrótica/fisiopatologia , Podócitos/patologia , Podócitos/fisiologia , Proteinúria/sangue , Proteinúria/complicações , Proteinúria/fisiopatologia , Fatores de Risco
9.
Rev Assoc Med Bras (1992) ; 65(7): 988-992, 2019 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-31389510

RESUMO

OBJECTIVE: The objective of this study was to investigate the effects of low triiodothyronine syndrome (LT3S) on platelet function and clotting factors in patients with nephrotic syndrome(NS). METHODS: Patients with primary nephrotic syndrome were divided into two groups, normal thyroid function (group A) and LT3S (group B), based on whether they had LT3S or not. Healthy subjects were selected as the control group (group C). Blood coagulation function was detected in each group. The platelet activation function (CD62P, CD63) was determined by flow cytometry. The platelet aggregation rate was detected by an optical method using adenosine diphosphate and arachidonic acid as inducers. RESULTS: The proportion of primary nephrotic syndrome with LT3S was 23.2% (69/298). Compared with group C, group A had higher CD62P and PAgTADP, and group B had higher CD62P, CD63, PAgTAA, and PAgTADP; the difference was statistically significant (all P < 0.05). There was no significant difference in renal pathology between group A and group B (X2 = 4.957, P = 0.421). Compared with group A, the 24-hour urine protein, CD63, PAgTAA, and PAgTADP were higher in group B, and APTT and Alb were lower. The difference was statistically significant (P < 0.05). Logistic regression analysis showed that LT3S was associated with CD36 (OR: 3.516; 95% CI: 1.742~8.186; P = 0.004) and PAgTAA (OR: 0.442; 95% CI: 1.001~1.251; P = 0.037). CONCLUSION: NS patients are prone to LT3S. Patients with LT3S may have abnormal platelet activation and increase of platelet aggregation.


Assuntos
Plaquetas/fisiologia , Síndromes do Eutireóideo Doente/sangue , Síndromes do Eutireóideo Doente/fisiopatologia , Síndrome Nefrótica/sangue , Síndrome Nefrótica/fisiopatologia , Tri-Iodotironina/sangue , Adulto , Feminino , Citometria de Fluxo , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/complicações , Ativação Plaquetária/efeitos dos fármacos , Ativação Plaquetária/fisiologia , Agregação Plaquetária/efeitos dos fármacos , Agregação Plaquetária/fisiologia , Contagem de Plaquetas , Testes de Função Plaquetária , Valores de Referência , Análise de Regressão , Tri-Iodotironina/deficiência
10.
Transplant Proc ; 51(7): 2283-2288, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31400976

RESUMO

Congenital nephrotic syndrome (CNS) is a genetic disease that is present in the antenatal period or during the first 3 months of life. In this study, we aimed to compare growth parameters of patients with CNS who received kidney transplants and either (1) had a normal glomerular filtration rate (GFR) at the time of transplant or (2) chronic kidney disease (CKD) at the time of transplant. Patients with a diagnosis of CNS who had a minimum follow-up period of 6 months were evaluated retrospectively. Children at stages 4 or 5 CKD or patients receiving dialysis during the pretransplant period were defined as group 1; patients with normal GFR at the time of transplantation were classified as group 2. Short stature and low weight were defined as less than -2 standard deviation scores (SDS) for height and weight according to their age. A total of 17 patients were included in the study. Thirteen of 17 patients had NPHS1 gene mutations. Group 1 and group 2 consisted of 8 and 9 patients, respectively. Mean height SDS and mean weight SDS in group 2 were higher than group 1 in the pretransplant period (-4.34 ± 1.74 vs -2.84 ± 1.56; P = .011 and -3.54 ± 0.93 vs -1.83 ± 1.13; P = .008). In the post-transplant period, the significant difference in height SDS continued in favor of group 2 (-3.16 ± 1.11 vs -1.16 ± 0.87; P = .002). The short stature rate was 83% in group 1 and 72% in group 2 in the pretransplant period (P = .62), and 83% in group 1 and 27% in group 2 in the post-transplant period (P = .02). Early renal transplantation seems to be effective for optimal height gain in children with CNS.


Assuntos
Transtornos do Crescimento/etiologia , Transplante de Rim/estatística & dados numéricos , Síndrome Nefrótica/cirurgia , Complicações Pós-Operatórias/etiologia , Insuficiência Renal Crônica/cirurgia , Fatores de Tempo , Adolescente , Estatura , Peso Corporal , Criança , Pré-Escolar , Feminino , Taxa de Filtração Glomerular , Humanos , Transplante de Rim/métodos , Masculino , Síndrome Nefrótica/fisiopatologia , Período Pós-Operatório , Diálise Renal/estatística & dados numéricos , Insuficiência Renal Crônica/congênito , Insuficiência Renal Crônica/fisiopatologia , Estudos Retrospectivos
11.
Am J Kidney Dis ; 74(6): 849-852, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31451329

RESUMO

Antibodies against THSD7A (thrombospondin type 1 domain-containing protein 7A) have been proposed to play a causal role in the development of nephrotic syndrome in patients with THSD7A antibody-positive membranous nephropathy. We hypothesized that removal of these antibodies from plasma could lead to a rapid reduction in proteinuria. Using immunoadsorption to reduce THSD7A antibodies led to a rapid reduction in proteinuria in 2 patients with THSD7A antibody-positive membranous nephropathy. Moreover, our findings support and strengthen the pathogenic role of the antibodies in the development of nephrotic syndrome in patients with THSD7A antibody-positive membranous nephropathy. Taken together, these 2 cases suggest that immunoadsorption could be a useful tool in the treatment of patients with THSD7A antibody-positive membranous nephropathy.


Assuntos
Autoanticorpos/imunologia , Glomerulonefrite Membranosa/imunologia , Glomerulonefrite Membranosa/terapia , Síndrome Nefrótica/patologia , Trombospondinas/imunologia , Adulto , Idoso , Biópsia por Agulha , Progressão da Doença , Glomerulonefrite Membranosa/patologia , Humanos , Imuno-Histoquímica , Masculino , Síndrome Nefrótica/fisiopatologia , Plasmaferese , Prognóstico , Proteinúria/imunologia , Proteinúria/fisiopatologia , Medição de Risco , Amostragem , Resultado do Tratamento
13.
Medicina (Kaunas) ; 55(7)2019 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-31336742

RESUMO

Acute kidney injury in the context of nephrotic syndrome is a serious and alarming clinical problem. Largely, acute kidney injury is a relatively frequent complication among patients with comorbidities while it has been independently associated with an increased risk of adverse outcomes, including death and chronic kidney disease. Nephrotic syndrome, without hematuria or with minimal hematuria, includes a list of certain glomerulopathies; minimal change disease, focal segmental glomerulosclerosis and membranous nephropathy. In the light of primary nephrotic syndrome, pathophysiology of acute kidney injury is differentiated by the nature of the primary disease and the severity of the nephrotic state. This review aims to explore the clinical circumstances and pathogenetic mechanisms of acute kidney injury in patients with nephrotic syndrome due to primary glomerulopathies, focusing on newer perceptions regarding the pathogenesis and management of this complicated condition, for the prompt recognition and timely initiation of appropriate treatment in order to restore renal function to its baseline level. Prompt recognition of the precise cause of acute kidney injury is crucial for renal recovery. Clinical characteristics, laboratory and serological findings along with histopathological findings, if required, will reveal the implicated pathway leading to individualized approach and management.


Assuntos
Lesão Renal Aguda/etiologia , Rim/patologia , Síndrome Nefrótica/complicações , Lesão Renal Aguda/epidemiologia , Lesão Renal Aguda/fisiopatologia , Anticoagulantes/efeitos adversos , Anticoagulantes/farmacologia , Anticoagulantes/uso terapêutico , Biópsia/instrumentação , Biópsia/métodos , Inibidores de Calcineurina/efeitos adversos , Inibidores de Calcineurina/uso terapêutico , Glomerulosclerose Segmentar e Focal/etiologia , Glomerulosclerose Segmentar e Focal/fisiopatologia , Humanos , Rim/metabolismo , Rim/fisiopatologia , Nefrite Intersticial/etiologia , Nefrite Intersticial/fisiopatologia , Síndrome Nefrótica/fisiopatologia , Veias Renais/patologia , Veias Renais/fisiopatologia , Trombose/etiologia , Trombose/fisiopatologia , Varfarina/efeitos adversos , Varfarina/farmacologia , Varfarina/uso terapêutico
14.
BMJ Case Rep ; 12(7)2019 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-31300605

RESUMO

Acquired C1-inhibitor (C1-INH) deficiency is a rare and potentially life-threatening disorder, which presents with recurrent attacks of non-pitting oedema to the face, airway, limbs or gastrointestinal tract. It is often associated with underlying B-cell lymphoproliferative disorders. We describe a case of a 73-year-old man with acquired C1-INH deficiency who presented with nephrotic syndrome due to glomerular IgM deposition, secondary to an underlying secretory lymphoplasmacytic lymphoma. Both the acquired C1-INH deficiency and the nephrotic syndrome resolved when the underlying B-cell lymphoma was treated with rituximab and bendamustine, suggesting the underlying lymphoproliferative malignancy was driving both disorders.


Assuntos
Angioedemas Hereditários/diagnóstico , Antineoplásicos Alquilantes/uso terapêutico , Cloridrato de Bendamustina/uso terapêutico , Síndrome Nefrótica/diagnóstico , Rituximab/uso terapêutico , Macroglobulinemia de Waldenstrom/diagnóstico , Idoso , Angioedemas Hereditários/tratamento farmacológico , Angioedemas Hereditários/etiologia , Angioedemas Hereditários/fisiopatologia , Humanos , Masculino , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/fisiopatologia , Qualidade de Vida , Retorno ao Trabalho , Resultado do Tratamento , Macroglobulinemia de Waldenstrom/complicações , Macroglobulinemia de Waldenstrom/tratamento farmacológico , Macroglobulinemia de Waldenstrom/fisiopatologia
15.
J Clin Lipidol ; 13(2): 251-253, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30685233

RESUMO

Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant renal disease with incomplete penetrance, associated with specific protein-modifying mutations in the APOE gene. LPG is associated with poor renal prognosis, in which lipoprotein thrombi are seen in the glomerular capillaries. Dyslipidemia in LPG generally resembles type III hyperlipoproteinemia with elevated serum apolipoprotein E level. Fibrate is the most frequently reported lipid-lowering therapy in LPG as hypertriglyceridemia is common in these individuals. There are few existing case reports on effectiveness of statin monotherapy for LPG. We report a 32-year-old Chinese man who presented with nephrotic syndrome, renal impairment, severe hypercholesterolemia without hypertriglyceridemia, and hypertension. Renal biopsy confirmed lipoprotein glomerulopathy. Genetic testing confirmed APOE Kyoto mutation. Anti-hypertensive therapy, including angiotensin receptor blocker, and statin were initiated. Concomitant with normalization of lipid profile, his proteinuria markedly improved, and his renal function has remained stable up to 3 years, demonstrating sustained benefit with statin monotherapy in LPG.


Assuntos
Nefropatias/complicações , Síndrome Nefrótica/etiologia , Adulto , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/farmacologia , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Rim/efeitos dos fármacos , Rim/fisiopatologia , Lipídeos/sangue , Masculino , Síndrome Nefrótica/sangue , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/fisiopatologia , Recuperação de Função Fisiológica/efeitos dos fármacos
16.
Indian J Pediatr ; 86(2): 180-182, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30128632

RESUMO

A seven-months-old girl under treatment for pneumonia presented with generalized edema, decreased urinary output and was found to have hypertension, muco-cutaneous fungal infection and pulmonary hypertension. Investigations revealed that she had heavy proteinuria, hypertriglyceridemia, hypoalbuminemia and elevated levels of free T3 and T4 with suppression of TSH levels in the serum. A diagnosis of autoimmune thyroiditis (AT) in thyrotoxic phase was made on the basis of clinical presentation and presence of anti-TPO antibodies and reduced uptake in thyroid (technetium) scintigraphy. The child responded to carbimazole therapy and propranolol. The case is presented to remind pediatricians about the rare occurrence of auto-immune thyroiditis in infancy with rare complications such as nephrotic syndrome and pulmonary hypertension.


Assuntos
Síndrome Nefrótica/complicações , Tireoidite Autoimune/complicações , Carbimazol/uso terapêutico , Feminino , Doença de Hashimoto/complicações , Doença de Hashimoto/fisiopatologia , Humanos , Hipertireoidismo/complicações , Hipertireoidismo/fisiopatologia , Hipertrigliceridemia , Hipoalbuminemia , Lactente , Síndrome Nefrótica/fisiopatologia , Pneumonia/terapia , Propranolol/uso terapêutico , Tecnécio/sangue , Tireoidite Autoimune/tratamento farmacológico , Tireoidite Autoimune/fisiopatologia , Tireotropina , Tri-Iodotironina/sangue
18.
Saudi J Kidney Dis Transpl ; 30(6): 1415-1422, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31929289

RESUMO

This cross-sectional analytical study was conducted from January 2012 to November 2014 in the Department of Pediatric Nephrology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh, to evaluate the bone mineral density (BMD) values in children with relapsing nephrotic syndrome (NS). Thirty relapsing nephrotic patients were enrolled in this study. They were divided into two groups: Group I - Frequent Relapse (FR) with 21 patients and Group II - Infrequent Relapse (IFR) with nine patients. Children included were both males and females aged between four and 15 years with relapsing NS with normal renal function. Steroid-resistant NS or those with abnormal renal functions or who were on cyclosporine and calcium supplement with Vitamin D or children with secondary NS were excluded from the study. All the study population underwent dual-energy X-ray absorptiometry scan to see the BMD value. Mean age of the patients of Group I (8.43 ± 2.61 years) was lower than that of Group II (9.41 ± 2.94 years (P = 0.4043). Mean BMD Z-scores of Group I was significantly lower than that of Group II (-2.70 ± 1.28 vs. -1.30 ± 1.54, respectively; P = 0.0317). A significantly higher cumulative dose of prednisolone was administered to Group I compared with Group II (P = 0.00003). On multivariate analysis, the total dose of prednisolone (P = 0.03693), body mass index (BMI) (P = 0.00703), and age of onset of disease (P = 0.03465) had a linear relationship with dependent variable BMD Z-score. On univariate regression analysis, statistically significant inverse relationship was observed between cumulative dose of prednisolone (in grams) (P = 0.049) and BMI (P = 0.00) with BMD Z-score, but no relation was observed with duration of illness. Children with relapsing NS, especially those receiving higher doses of steroids, were at risk for low BMD.


Assuntos
Densidade Óssea , Síndrome Nefrótica/fisiopatologia , Adolescente , Doenças Ósseas Metabólicas/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Hospitais , Humanos , Masculino , Recidiva
19.
Artigo em Inglês | MEDLINE | ID: mdl-30539703

RESUMO

Idiopathic Edema (IE), is a syndrome involving real or perceived weight gain secondary to the pathological retention of fluid. This syndrome of generalized edema is almost solely reported in women. The diagnosis of IE is one of exclusion and requires a careful history, physical exam, and clinical suspicion. The aim of this article is to provide a comprehensive review of the available literature in order to attempt to define IE, identify the possible causes, review the proposed pathophysiology, and discuss potential treatment options.


Assuntos
Edema/etiologia , Edema/patologia , Animais , Edema/fisiopatologia , Edema/terapia , Humanos , Hiponatremia/etiologia , Hiponatremia/patologia , Hiponatremia/fisiopatologia , Hiponatremia/terapia , Linfedema/etiologia , Linfedema/patologia , Linfedema/fisiopatologia , Linfedema/terapia , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/patologia , Síndrome Nefrótica/fisiopatologia , Síndrome Nefrótica/terapia , Síndromes da Apneia do Sono/etiologia , Síndromes da Apneia do Sono/patologia , Síndromes da Apneia do Sono/fisiopatologia , Síndromes da Apneia do Sono/terapia , Ganho de Peso
20.
BMC Nephrol ; 19(1): 302, 2018 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-30382824

RESUMO

BACKGROUND: Idiopathic nephrotic syndrome (INS) is the most common chronic glomerular disease in children. Approximately 80-90% of patients with childhood INS have steroid-sensitive nephrotic syndrome (SSNS), and can obtain remission with steroid therapy, while the remainder have steroid-resistant nephrotic syndrome (SRNS). Furthermore, approximately 50% of children with SSNS develop frequently-relapsing nephrotic syndrome (FRNS) or steroid-dependent nephrotic syndrome (SDNS). Children with FRNS/SDNS are usually treated with immunosuppressive agents such as cyclosporine, cyclophosphamide, or mizoribine in Japan. However, 10-20% of children receiving immunosuppressive agents still show frequent relapse and/or steroid dependence during or after treatment, which is defined as complicated FRNS/SDNS. Furthermore, 30% of SRNS patients who obtain remission after additional treatments such as cyclosporine also turn out to be complicated FRNS/SDNS. For such complicated FRNS/SDNS patients, rituximab (RTX) is currently used; however, recurrence after RTX treatment also remains an open issue. Because long-term use of existing immunosuppressive drugs has limitations, development of a novel treatment for maintenance therapy after RTX is desirable. Mycophenolate mofetil (MMF) is an immunosuppressive drug with fewer side effects than cyclosporine or cyclophosphamide. Importantly, recent studies have reported the efficacy of MMF in children with nephrotic syndrome. METHODS: We conduct a multicenter, double-blind, randomized, placebo-controlled trial to evaluate the efficacy and safety of MMF after RTX therapy in children with complicated FRNS/SDNS. Patients are allocated to either RTX plus MMF treatment group, or RTX plus placebo treatment group. For the former group, MMF is administered at a dose of 1000-1200 mg/m2/day (maximum 2 g/day) twice daily for 17 months after RTX treatment. The primary endpoint is time-to-treatment failure (development of frequent relapses, steroid dependence or steroid resistance). DISCUSSION: The results will provide important data on the use of MMF as maintenance therapy after RTX to prevent complicated FRNS/SDNS patients from declining into treatment failure. In future, MMF in conjunction with RTX treatment may permit increased duration of remission in 'complicated' FRNS/SDNS cases. TRIAL REGISTRATION: This trial was prospectively registered to UMIN Clinical Trials Registry on June 23, 2014 (UMIN Trial ID: UMIN000014347 ).


Assuntos
Fatores Imunológicos/administração & dosagem , Ácido Micofenólico/administração & dosagem , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/tratamento farmacológico , Rituximab/administração & dosagem , Esteroides/administração & dosagem , Criança , Método Duplo-Cego , Quimioterapia Combinada , Humanos , Síndrome Nefrótica/fisiopatologia , Recidiva , Resultado do Tratamento
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