Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 56
Filtrar
1.
Artigo em Inglês | MEDLINE | ID: mdl-37123344

RESUMO

Background: Urinary tract infection (UTI) is common after pediatric renal transplantation, and the emergence of multidrug-resistant (MDR) bacteria causing UTI is a therapeutic challenge in this regard. The main purpose of this study was to determine the UTI frequency, its etiologic agents, and the antibiotic susceptibility pattern in the first year following renal transplantation in Iranian pediatric recipients. Methods: In a retrospective cohort study, all of the 81 children who had undergone renal transplantation in Hazrat Rasoul Akram Hospital between 2012 and 2017 were enrolled. Confirmed episodes of UTI during the first year following renal transplantation were analyzed. The pattern of antibiotic resistance was determined for the causative agents of UTI. The data were analyzed using the IBM SPSS Statistics software (version 20). and the P < 0.05 was considered significant. Results: Totally, from 81 enrolled cases, 37(44.7%) cases were in the age group of 11-15 years. Overall, 19, 10, and 3 UTI episodes had occurred in the first month, from the first to sixth month, and between the sixth month and one year after transplantation, respectively. The four most common isolated bacteria were Escherichia coli (E. coli; 31.2%), Pseudomonas aeruginosa (P. aeruginosa; 25%), Enterococci (21.9%) and Klebsiella pneumoniae (K. pneumoniae; 12.5%). The highest rate of resistance was reported to trimethoprim/sulfamethoxazole (TMP/SMX), cephalosporins, and fluoroquinolones among gram-negative bacteria. However, none of the Enterococci isolates were resistant to linezolid and nitrofurantoin. Conclusion: Resistance to antibiotics is increasing among the pathogens causing UTI in pediatric renal transplanted cases. It is suggested to stop the administration of TMP/SMX and third-generation cephalosporins for empiric treatment of UTI in Iranian pediatric renal transplant recipients. Ciprofloxacin might be administered cautiously secondary to the increasing rate of antibiotic resistance in this group.

2.
Clin Case Rep ; 10(12): e6698, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36514463

RESUMO

An Iranian girl with clinical symptoms of Bartter syndrome like hypokalemia, polyuria, polydipsia, hyponatremia, and hypochloremic alkalosis was referred to us in whom the CLCNKB gene was genetically evaluated using Sanger sequencing. A homozygous pathogenic variant of c.1332_1335delCTCT was detected in this patient.

3.
Med J Islam Repub Iran ; 36: 15, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35999937

RESUMO

Background: Cystinosis is a multisystemic disease caused by the accumulation of cystine crystals in the kidney and many other organs. This disease most often involves children. Recent developments in the treatment procedures have improved the chance of patients surviving as long as puberty. This study discusses the importance of immediate diagnosis and early treatment of the disease with cystagon, which reduces gastrointestinal complications in such patients. Methods: This descriptive study was performed on 19 adult patients (over 18 years old) with cystinosis who were observed by nephrologists from medical universities throughout Iran. Gastrointestinal complications were studied in the patients. Data were analyzed using SPSS Version 22. Results: The mean age of patients at the time of enrollment was 23.89 ± 5.06 years. Seventeen (89.4%) patients of this group had received renal replacement therapy (3 dialysis, 14 renal transplantation) due to end-stage renal disease and 2 (10.5%) of them were in stages 2 and 3 of chronic kidney disease. Three patients (15.7%) had hepatomegaly and splenomegaly; liver enzymes were normal in all patients. One patient (5.2%) had increased portal vein flow velocities, 2 of the patients (10.5%) underwent percutaneous endoscopic gastrostomy implantation due to severe dysphagia and eventually died. Most gastrointestinal symptoms in patients were nausea and abdominal pain. Conclusion: Early diagnosis and treatment with the proper dose of cystagon can increase life expectancy, reduce complications, and improve the patient's quality of life.

4.
Exp Clin Transplant ; 20(10): 895-900, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-33928879

RESUMO

OBJECTIVES: End-stage kidney disease has dramatic health effects and life consequences in children. Presently, kidney transplant has been globally accepted as a treatment of choice for end-stage kidney disease in both children and adults, leading to better quality of life and longer patient survival. Because of lack of comprehensive information on the outcome of kidney transplant among children in Iran, we aimed to present a proper vision of pediatric kidney transplant in Iran by systematically reviewing the current literature. MATERIALS AND METHODS: Major databases were searched, including Medline, Web of Knowledge, Google Scholar, Scopus, Cochrane, and the Iranian Scientific Information Database for all eligible studies in accordance with specific keywords. The inclusion criteria forthe retrieved studies were determination of graft survival, patient survival, and reasons for graft failure. The exclusion criteria were as follows: (1) a lack of clearresults; (2) non-English or non-Persian language format; (3) lack of access to the full-text manuscripts; and (4) case reports, case series, and review papers. A total of 115 studies were initially assessed based on the keywords; of these, 8 met inclusion criteria and were considered for final analysis; these were published between 2005 and 2017. RESULTS: According to our results, 1-year graft survival rates were overall 89.7%, and 5-year graft survival rates were 65.4%. The 1-year patient survival rates were estimated to be 97.1%, and 5-year patient survival rates were estimated to be 89.8%. Acute rejection, dialysis status before transplant, and inappropriate immunosuppression were the main risk factors. CONCLUSIONS: Our systematic review and meta-analysis indicated a high success rate of childhood kidney transplant in Iran according to long-term graft and patient survival rates.


Assuntos
Falência Renal Crônica , Transplante de Rim , Humanos , Adulto , Criança , Transplante de Rim/efeitos adversos , Irã (Geográfico) , Qualidade de Vida , Resultado do Tratamento , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/cirurgia , Falência Renal Crônica/etiologia
5.
Med J Islam Repub Iran ; 35: 91, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34956937

RESUMO

Background: Diarrhea-associated-hemolytic-uremic-syndrome (D+HUS) is a common from of HUS. Central-nervous-system (CNS) involvement is one of the most common extrarenal organ involvements in children with D+HUS. This systematic review and meta-analysis aim to recognize the frequency of neurological complications in pts with HUS. Methods: Databases of PubMed, Embase, and Web of Science were searched systematically to find the papers on neurological involvement in HUS pts. Two researchers independently assessed the papers' quality and extracted data. CMA v. 2.2.064. was used for data analysis. Heterogeneity was evaluated using the I-squared (I2) test, and a fixed/random-effects model was used when appropriate. Results: In this review, 21 studies including 2,189 participants with a median age between 1.3-40-year-old, entered the meta-analysis. The meta-analysis in D+HUS patients indicated 27.0% with neurological complications (95% CI, 22.0%-32.6%), 25.5% of symptoms weren't categorized (95% CI, 15.9%-38.3%), 20.8% of them developed the seizures (95% CI, 2.3%-74.4%). In D-HUS pts, 20.8% of them were presented neurological symptoms (95% CI, 17.9%-24.0%), of which 29.0% weren't categorized (95% CI, 19.2%-41.2%), 17.5% of pts got into coma (95% CI, 9.6%-29.7%), 5.6 % showed hemiparesis (95% CI, 2.8%-10.9%), 17.2% experienced lethargy (95% CI, 5.2%-44.1%), 30.5% developed the seizures (95% CI, 18.2%-46.2%), 7.4% manifested speech abnormalities (95% CI, 0.2%-7.22%), 6.4% of D-HUS pts presented visual-disturbances (95% CI, 3.4%-11.6%). Conclusion: This systematic review and meta-analysis indicated more than one-fourth of both D+HUS and D-HUS patients were presented with neurological symptoms, and the most prevalent symptoms were seizures, which can lead to an epilepsy sequel.

6.
Clin Genet ; 100(1): 59-78, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33713422

RESUMO

Hearing loss (HL) is one of the most common sensory defects affecting more than 466 million individuals worldwide. It is clinically and genetically heterogeneous with over 120 genes causing non-syndromic HL identified to date. Here, we performed exome sequencing (ES) on a cohort of Iranian families with no disease-causing variants in known deafness-associated genes after screening with a targeted gene panel. We identified likely causal variants in 20 out of 71 families screened. Fifteen families segregated variants in known deafness-associated genes. Eight families segregated variants in novel candidate genes for HL: DBH, TOP3A, COX18, USP31, TCF19, SCP2, TENM1, and CARMIL1. In the three of these families, intrafamilial locus heterogeneity was observed with variants in both known and novel candidate genes. In aggregate, we were able to identify the underlying genetic cause of HL in nearly 30% of our study cohort using ES. This study corroborates the observation that high-throughput DNA sequencing in populations with high rates of consanguineous marriages represents a more appropriate strategy to elucidate the genetic etiology of heterogeneous conditions such as HL.


Assuntos
Exoma/genética , Predisposição Genética para Doença/genética , Perda Auditiva/genética , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem , Sequenciamento do Exoma/métodos , Adulto Jovem
7.
Pediatr Nephrol ; 36(7): 1803-1808, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33459936

RESUMO

BACKGROUND: Thromboembolism is one of the most important and dangerous complications of nephrotic syndrome. This study aimed to determine the value of albumin, anti-thrombin III, fibrinogen and D-dimer factors in the prediction of asymptomatic pulmonary embolism in patients with nephrotic syndrome in non-remission period. METHODS: Plasma levels of albumin, anti-thrombin III, fibrinogen and D-dimer were assessed in 30 nephrotic children in non-remission period (including new case-patient or relapse period), and the results were compared with chest X-ray and lung perfusion scintigraphy (Q scan). RESULTS: The mean age of patients was 6.22 ± 3.5 years (range 2-12 years). Of patients, 23.3% had abnormal findings in perfusion scan suggestive of pulmonary emboli despite absence of any respiratory manifestations. Median plasma albumin and anti-thrombin III levels in patients with asymptomatic pulmonary embolism were lower than in patients without pulmonary embolism. Also, median fibrinogen and D-dimer levels in patients with asymptomatic pulmonary embolism were higher than in patients without pulmonary embolism, with no statistically significant differences between sex, age, hemoglobin and hematocrit of patients and lung perfusion scan results. CONCLUSION: Patients with abnormal blood levels of albumin (< 3.5 g/dl), anti-thrombin III (< 80 ml/dl), fibrinogen (> 400 ml/dl) and D-dimer (> 0.5 µg/dl) underwent CXR/Q scan and were treated with heparin if there was pulmonary embolism.


Assuntos
Síndrome Nefrótica , Embolia Pulmonar , Criança , Pré-Escolar , Produtos de Degradação da Fibrina e do Fibrinogênio , Fibrinogênio , Humanos , Síndrome Nefrótica/complicações , Síndrome Nefrótica/diagnóstico , Embolia Pulmonar/diagnóstico , Albumina Sérica , Trombina
8.
BMC Med Genet ; 21(1): 169, 2020 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-32838746

RESUMO

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS is a dysregulation in the alternative complement pathway. Mutations in none complement genes such as diacylglycerol kinase epsilon (DGKE) can also result in this syndrome. CASE PRESENTATION: Here, we report on a 19-year-old female with the clinical diagnosis of aHUS, who has unaffected consanguineous parents and an older sibling who was deceased from aHUS when she was seven months old. We performed whole exome sequencing (WES) followed by evaluation of detected variants for functional significance, using several online prediction tools. Next, in order to confirm the detected pathogenic variant in proband and segregation analysis in her family, Sanger sequencing was done. The novel variant was analyzed in terms of its impact on the protein 3-dimensional structure by computational structural modeling. The results revealed that the proband carried a novel homozygous missense variant in DGKE located in exon 6 of the gene (NM_003647.3, c.942C > G [p.Asn314Lys]), and in silico analysis anticipated it as damaging. Protein computational study confirmed the influence of potential pathogenic variant on structural stability and protein function. CONCLUSION: We suggest that some variations in the catalytic domain of DGKE like p.Asn314Lys which can cause alterations in secondary and 3-D structure of protein, might lead to aHUS.


Assuntos
Síndrome Hemolítico-Urêmica Atípica/genética , Diacilglicerol Quinase/genética , Sequenciamento do Exoma/métodos , Mutação de Sentido Incorreto , Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Domínio Catalítico , Consanguinidade , Diacilglicerol Quinase/química , Feminino , Homozigoto , Humanos , Masculino , Linhagem , Adulto Jovem
9.
Iran Biomed J ; 24(6): 405-8, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32660933

RESUMO

Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polydipsia and chronic kidney disease and was clinically suspected of NPHP. After the collection of blood sample from proband and her parents, whole exome sequencing (WES) was performed to identify the possible variants in the proband from a consanguineous marriage. The functional importance of variants was estimated by bioinformatic analysis. In the affected proband and her parents, Sanger sequencing was conducted for variants' confirmation and segregation analysis. Results: Clinical and paraclinical investigations of the patient was not informative. Using WES, we could detect a novel homozygous frameshift mutation in XPNPEP3 (NM_022098.2: c.719_720insA; p. Q241Tfs*13), and by Sanger sequencing, we demonstrated an insertion in XPNPEP3. Conclusion: The homozygous genotype of the novel p.Q241Tfs*31 variant in XPNPEP3 may cause NPHP in the early childhood age.


Assuntos
Aminopeptidases/genética , Sequenciamento do Exoma , Doenças Renais Císticas/congênito , Mutação/genética , Sequência de Bases , Criança , Feminino , Humanos , Doenças Renais Císticas/genética
10.
Saudi J Kidney Dis Transpl ; 31(2): 448-453, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32394918

RESUMO

Significant weight gain following renal transplantation is common in adult and pediatric recipients and mostly depends on receiving higher doses of steroids, changes in mood and feelings, as well as their level of physical activities. This study was performed to evaluate body weight and body mass index (BMI) before and after kidney transplantation in children and adolescents. In this cross-sectional study, 71 pediatric renal transplant recipients (42 boys and 29 girls) were included. World Health Organization criteria were used for comparing Z-score BMI for age in our cases. Overweight was defined as Z-score BMI >+1 SD (standard deviation) and obesity as >+2 SD. At the time of transplantation, the mean age was 10.8 ± 3 years (5-16 years) and based on BMIZ-score, the patients were found to be thin (BMIZs <-2 SD) in 16.9%, normal (BMIZs = -2 to +1 SD) in 67.6%, overweight (>+1 SD to +2 SD) in 9.9%, and obese (BMIZs >+2 SD) in 5.6%.The mean follow-up duration after transplantation was 3.57 ± 1.68 years (1-7 years) and at the time of reevaluation after transplant, their mean age was 14.4 years (6-18 years). The mean BMI was 22 ± 5.3 kg/m2, and for BMI grouping, the patients were thin in 7%, normal in 54.9%, overweight in 21.1%, and obese in 17%. Pretransplant thinness (BMIZs <-2 SD) was found in 12 patients (16.9%), equally in boys and girls, and in most of them (83.3%), BMIZs changed to normal or even >+1 SD after transplant. Chronic continuous decrease of glomerular filtration rate (CCD/GFR) was found in 27 cases (38%); 74.1% were male (P = 0.045), hypertriglyceridemia was found in 74.1% (P = 0.023%), hypercholesterolemia in 63% (P = 0.032),and obesity in 18.5% (p = 0.5). The incidence of obesity has tripled after kidney transplantation. It was not a risk factor for graft or patient survival in our experience, whereas pretransplant obesity had some effects on long-term graft outcome.


Assuntos
Índice de Massa Corporal , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Obesidade Infantil/epidemiologia , Magreza/epidemiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Incidência , Irã (Geográfico)/epidemiologia , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/fisiopatologia , Masculino , Obesidade Infantil/diagnóstico , Obesidade Infantil/fisiopatologia , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Magreza/diagnóstico , Magreza/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , Aumento de Peso
11.
Iran J Kidney Dis ; 13(1): 32-35, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30851717

RESUMO

INTRODUCTION: Central nervous system (CNS) involvement is the most common extrarenal involvement in hemolytic uremic syndrome (HUS). There are limited reports on clinical cause of chronic neurologic problems in HUS. We evaluated residual neurologic involvement in children with HUS. MATERIALS AND METHODS: This cross-sectional study was conducted on 58 patients with a diagnosis of HUS referred to 2 tertiary pediatric centers. Neurological examinations was performed on all of the patients and they were followed up between 2001 and 2015. Data including demographic variables, type of HUS, neurological symptoms, and other complications were recorded. Neurological involvements that occurred after 6 months from the acute phase of HUS were considered as chronic neurological involvement. RESULTS:  Among 58 patients who were included in the study, 31 (53.4%) had neurological manifestations (31 with acute and 19 with chronic complications). There was no significant difference in acute neurological manifestations between typical and atypical HUS, while chronic neurological manifestations were more frequents in patients with atypical HUS (P = .05). The most common presentations were seizure and decreased level of consciousness. Chronic neurologic problems were found in follow-up visits of 11 patients with acute and 8 without acute involvement. Hypertension was associated with chronic manifestations (P = .01). CONCLUSIONS: According to our results, residual neurological problems were not infrequent in HUS and they were more related with atypical form of disease. Evidence of hypertension is a significant variable for persistence of neurologic problems.


Assuntos
Sistema Nervoso Central/fisiopatologia , Síndrome Hemolítico-Urêmica/complicações , Hipertensão/etiologia , Convulsões/etiologia , Inconsciência/etiologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Diálise Renal/efeitos adversos
12.
Pediatr Transplant ; 22(2)2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29388291

RESUMO

IGRA has been approved as an alternative in vitro test to diagnose Mycobacterium TB infection. This study aimed to assess the diagnostic value of TST in comparison with QFT assay to detect LTBI among Iranian children candidate for renal transplantation. This cross-sectional study was performed on 31 children who were candidate for renal transplantation admitted to Ali Asghar Children's Hospital and Rasoul Akram Hospital, Tehran, Iran, from 2013 to 2014. TST and QFT were performed for all patients. QFT was negative in all patients, while TST was positive only in one case. Both tests results were negative in 30 patients, yielding an accuracy rate of 96.7% for TST to diagnose LTBI when compared to QFT. In conclusion, compared to QFT, TST is still a valuable diagnostic tool with high accuracy rate for diagnosis of LTBI in children candidates for renal transplantation and can still be used as an accurate test for screening Mycobacterium TB infection.


Assuntos
Testes de Liberação de Interferon-gama , Transplante de Rim , Tuberculose Latente/diagnóstico , Cuidados Pré-Operatórios/métodos , Teste Tuberculínico , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Irã (Geográfico) , Masculino
13.
Iran J Kidney Dis ; 12(1): 27-32, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29421774

RESUMO

INTRODUCTION: There is evidence of the effectiveness of rituximab in treatment of nephrotic syndrome in children. The present study aimed to assess safety and the therapeutic effectiveness of rituximab in steroid- and cyclosporine-resistant pediatric nephrotic syndrome. MATERIALS AND METHODS: Forty-three children with steroid- and cyclosporine-resistant or steroid- and cyclosporine-dependent noncongenital nephrotic syndrome were included in the study to receive intravenous rituximab, 375 mg/m2/wk, for 4 weeks. The children were followed up for 2 years. Effectiveness was defined as remission of proteinuria in response to rituximab. Side effects of rituximab were monitored. RESULTS: Overall, 23 (57.1%) of the children had steroid- and cyclosporine-resistant nephrotic syndrome, of whom 8 (34.8%) revealed complete response and 3 (13%) revealed partial response. Seven children (16.7%) had late-resistant nephrotic syndrome, of whom 6 (85.7%) revealed complete response and none revealed partial response. Ten children (26.2%) had steroid- and cyclosporine-dependence all of whom revealed complete response to rituximab. Complete response rate was significantly higher in those with drug-dependent pattern than the other groups (P = .002). There was no association between response to rituximab and pathological basis of disease. Side effects were found in 4 patients as leukopenia in 2, alopecia in 1, and eosinophilia in 1. CONCLUSIONS: Rituximab is effective for children with nephrotic syndrome with high efficacy and well tolerability, especially in those with steroid- and cyclosporine-dependent nephrotic syndrome.


Assuntos
Ciclosporina/uso terapêutico , Imunossupressores/uso terapêutico , Rim/efeitos dos fármacos , Síndrome Nefrótica/congênito , Rituximab/uso terapêutico , Esteroides/uso terapêutico , Adolescente , Fatores Etários , Criança , Pré-Escolar , Ciclosporina/efeitos adversos , Feminino , Humanos , Imunossupressores/efeitos adversos , Rim/patologia , Rim/fisiopatologia , Masculino , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/fisiopatologia , Proteinúria/diagnóstico , Proteinúria/tratamento farmacológico , Proteinúria/fisiopatologia , Indução de Remissão , Rituximab/efeitos adversos , Esteroides/efeitos adversos , Fatores de Tempo , Resultado do Tratamento
14.
BMC Nephrol ; 18(1): 210, 2017 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-28673276

RESUMO

BACKGROUND: Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management of cystinosis. The aim of this study was to assess the management characteristics in DiN compared with developed nations [DeN]. METHODS: A questionnaire was sent between April 2010 and May 2011 to 87 members of the International Pediatric Nephrology Association, in 50 countries. RESULTS: A total of 213 patients were included from 41 centres in 30 nations (109 from 17 DiN and 104 from 13 DeN). 7% of DiN patients died at a median age of 5 years whereas no death was observed in DeN. DiN patients were older at the time of diagnosis. In DiN, leukocyte cystine measurement was only available in selected cases for diagnosis but never for continuous monitoring. More patients had reached end-stage renal disease in DiN (53.2 vs. 37.9%, p = 0.03), within a shorter time of evolution (8 vs. 10 yrs., p = 0.0008). The earlier the cysteamine treatment, the better the renal outcome, since the median renal survival increased up to 16.1 [12.5-/] yrs. in patients from DeN treated before the age of 2.5 years of age (p = 0.0001). However, the renal survival was not statistically different between DeN and DiN when patients initiated cysteamine after 2.5 years of age. The number of transplantations and the time from onset of ESRD to transplantation were not different in DeN and DiN. More patients were kept under maintenance dialysis in DiN (26% vs.19%, p = 0.02); 79% of patients from DiN vs. 45% in DeN underwent peritoneal dialysis. CONCLUSIONS: Major discrepancies between DiN and DeN in the management of nephropathic cystinosis remain a current concern for many patients living in countries with limited financial resources.


Assuntos
Cistinose/epidemiologia , Saúde Global , Internacionalidade , Falência Renal Crônica/epidemiologia , Médicos , Inquéritos e Questionários , Adolescente , Adulto , Criança , Pré-Escolar , Cistinose/diagnóstico , Cistinose/terapia , Países em Desenvolvimento , Feminino , Seguimentos , Humanos , Lactente , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/terapia , Masculino , Estudos Retrospectivos , Adulto Jovem
15.
Minerva Pediatr ; 69(3): 200-205, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28452212

RESUMO

BACKGROUND: Hypertension (HTN) is a late outcome of congenital or acquired renal scar. We used ambulatory blood pressure to assess the early blood pressure abnormalities in children with history of urinary tract infection with various degrees of renal scars. METHODS: Between 2009 and 2011, 60 (45 females, 15 males) children aged 5-15 years and height equal or more than 120 cm with previous history of febrile urinary tract infection were entered into the study. All children went on 24-hour ambulatory blood pressure monitoring (24-H ABPM). Updated classification of 24-H ABPM was used to interpret the results. RESULTS: Masked hypertension was detected in 5% of cases, hypertension in 8.4%, and white coat hypertension in 11.7%. Pre-hypertension was seen in 23.3% of children. There was significant correlation between abnormal blood pressure and the severity of renal parenchymal scar (r=0.39, P value=0.004), vesicoureteral reflux (r= 0.34, P value=0.009), microalbuminuria (r= 0.39, P value=0.004), and carotid intima media thickness (r=0.41, P value=0.006). CONCLUSIONS: This study revealed the utility of 24-H ABPM in early detection of hypertension and pre-hypertension in children with severe renal scars and past history of urinary tract infection.


Assuntos
Cicatriz/complicações , Hipertensão/epidemiologia , Rim/patologia , Infecções Urinárias/complicações , Adolescente , Monitorização Ambulatorial da Pressão Arterial , Espessura Intima-Media Carotídea , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão/diagnóstico , Hipertensão/etiologia , Masculino , Pré-Hipertensão/diagnóstico , Pré-Hipertensão/epidemiologia , Pré-Hipertensão/etiologia , Prevalência , Índice de Gravidade de Doença , Infecções Urinárias/epidemiologia , Refluxo Vesicoureteral/epidemiologia
16.
J Med Genet ; 52(12): 823-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26445815

RESUMO

BACKGROUND: Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed deafness-causing genes. DESIGN: Using a custom targeted genomic enrichment (TGE) panel, we simultaneously interrogated all known genetic causes of NSHL in a cohort of 302 GJB2-negative Iranian families. RESULTS: We established a genetic diagnosis for 67% of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15. As a reflection of the power of consanguinity mapping, 26 genes were identified as causative for NSHL in the Iranian population for the first time. In total, 179 deafness-causing variants were identified in 40 genes in 201 probands, including 110 novel single nucleotide or small insertion-deletion variants and three novel CNV. Several variants represent founder mutations. CONCLUSION: This study attests to the power of TGE and massively parallel sequencing as a diagnostic tool for the evaluation of hearing loss in Iran, and expands on our understanding of the genetics of HHL in this country. Families negative for variants in the genes represented on this panel represent an excellent cohort for novel gene discovery.


Assuntos
Perda Auditiva/genética , Conexina 26 , Conexinas , Consanguinidade , Efeito Fundador , Frequência do Gene , Genes Recessivos , Estudos de Associação Genética , Predisposição Genética para Doença , Perda Auditiva/patologia , Humanos , Irã (Geográfico)
19.
J Pediatr Urol ; 10(6): 1032-6, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24953543

RESUMO

OBJECTIVE: Our aim was to evaluate the efficacy and safety of single endoscopic injection of Vantris in young girls affected by primary vesicoureteral reflux (VUR) at more than 2 years of prospective follow-up. MATERIAL AND METHODS: Over the last 4 years, 73 girls with primary VUR of grades (G) I-IV underwent a single endoscopic injection of Vantris. The mean age was 8.48 (SD=4.8) years. VUR was unilateral in 73 and bilateral in 13 patients, comprising 86 renal refluxing units (RRUs). Pre-operative evaluation consisted of: blood biochemistry, urine analysis and culture, ultrasound scan, voiding cystourethrogram (VCUG), and dimercaptosuccinic acid (DMSA) renal isotope scan. Patients were followed using ultrasound scans at 1 month and every 3 months for the first year and then 2 years after injection. Direct radionuclide cystography with technetium pertechnetate was performed at 3 and 12 months after injection. VCUG was performed only in confirmed cases of failure and downgraded VUR at 3, 12, and 24 months after endoscopic correction. RESULTS: Sixty-nine (95%), 61 (83.4%), and 52 (71%) patients completed 3, 12, and 24 months' follow-up respectively. VUR was corrected and downgraded to G I in 81% and 3.3% of RRUs at 3 months' follow-up. The corrected and downgraded RRUs at 12 and 24 months' follow-up were 77%, 10%, and 77%, 11% respectively. De novo contralateral G I VUR was demonstrated in 8.6% of normal ureters. Contralateral GI VUR with normal DMSA isotope renal scans was resolved in 71% of RRUs. Febrile urinary tract infection decreased to 4.1% in the patients. CONCLUSION: According to our study, a single Vantris injection provides a high level of efficacy and safety in the treatment of primary G I-IV VUR in young girls, at 2 years' prospective follow-up.


Assuntos
Resinas Acrílicas/administração & dosagem , Ureteroscopia/métodos , Refluxo Vesicoureteral/terapia , Materiais Biocompatíveis , Criança , Feminino , Seguimentos , Humanos , Injeções , Estudos Prospectivos , Fatores de Tempo , Resultado do Tratamento
20.
Iran J Kidney Dis ; 8(2): 105-8, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24685732

RESUMO

INTRODUCTION: Procalcitonin is a reliable and specific marker of bacterial infections such as urinary tract infection. Some authors suggest measurement of serum procalcitonin as a predictor of vesicoureteral reflux (VUR). We investigated this association in children admitted because of acute pyelonephritis. MATERIALS AND METHODS: Forty-eight children with the first febrile urinary tract infection were included. Twelve patients had low-grade VUR, 9 patients had high-grade VUR, and 27 patients did not have any VUR in their imaging assessment. RESULTS: There was a significant association between high-grade VUR and higher levels of procalcitonin (P = .04). The sensitivity of a procalcitonin level of 0.31 ng/mL or greater was 90% and the specificity was 32% for diagnosis of high-grade VUR. CONCLUSIONS: We concluded that serum procalcitonin concentration is a sensitive and promising predictor of high-grade VUR.


Assuntos
Calcitonina/sangue , Precursores de Proteínas/sangue , Pielonefrite/complicações , Refluxo Vesicoureteral/etiologia , Doença Aguda , Biomarcadores/sangue , Peptídeo Relacionado com Gene de Calcitonina , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Valor Preditivo dos Testes , Estudos Prospectivos , Pielonefrite/sangue , Pielonefrite/diagnóstico , Fatores de Risco , Índice de Gravidade de Doença , Regulação para Cima , Refluxo Vesicoureteral/sangue , Refluxo Vesicoureteral/diagnóstico
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...