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AIM: To determine (i) prevalence and the risk factors for acute kidney injury (AKI) in children hospitalised for febrile urinary tract infection (fUTI) and (ii) role of AKI as indicator of an underlying VUR. AKI, in fact, is favoured by a reduced nephron mass, often associated to VUR. METHODS: This retrospective Italian multicentre study enrolled children aged 18 years or younger (median age = 0.5 years) discharged with a primary diagnosis of fUTI. AKI was defined using Kidney Disease/Improving Global Outcomes serum creatinine criteria. RESULTS: Of 849 children hospitalised for fUTI (44.2% females, median age 0.5 years; IQR = 1.8), 124 (14.6%) developed AKI. AKI prevalence rose to 30% in the presence of underlying congenital anomalies of the kidney and urinary tract (CAKUT). The strongest AKI predictors were presence of CAKUT (OR = 7.5; 95%CI: 3.8-15.2; p = 9.4e-09) and neutrophils levels (OR = 1.13; 95%CI: 1.08-1.2; p = 6.8e-07). At multiple logistic regression analysis, AKI during fUTI episode was a significant indicator of VUR (OR = 3.4; 95%CI: 1.7-6.9; p = 0.001) despite correction for the diagnostic covariates usually used to assess the risk of VUR after the first fUTI episode. Moreover, AKI showed the best positive likelihood ratio, positive predictive value, negative predictive value and specificity for VUR. CONCLUSION: AKI occurs in 14.6% of children hospitalised for fUTI and is a significant indicator of VUR.
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Injúria Renal Aguda , Infecções Urinárias , Humanos , Infecções Urinárias/epidemiologia , Infecções Urinárias/complicações , Feminino , Masculino , Estudos Retrospectivos , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/epidemiologia , Injúria Renal Aguda/diagnóstico , Lactente , Pré-Escolar , Hospitalização , Febre/etiologia , Prevalência , Criança , Fatores de Risco , Itália/epidemiologia , AdolescenteRESUMO
Nutrition management is fundamental for children with chronic kidney disease (CKD). Fluid balance and low-protein and low-sodium diets are the more stressed fields from a nutritional point of view. At the same time, the role of micronutrients is often underestimated. Starting from the causes that could lead to potential micronutrient deficiencies in these patients, this review considers all micronutrients that could be administered in CKD to improve the prognosis of this disease.
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Hipersensibilidade a Leite , Humanos , Criança , Lactente , Pré-Escolar , Feminino , Animais , Masculino , BovinosRESUMO
In the last decades, our understanding of the genetic disorders of inherited podocytopathies has advanced immensely; this has been possible thanks to the development of next-generation sequencing technologies that offer the possibility to evaluate targeted genes at a lower cost than in the past. Identifying new genetic mutations has helped to recognize the key role of the podocyte in the health of the glomerular filter and to understand the mechanisms that regulate the cell biology and pathology of the podocyte. Here we describe a patient with congenital nephrotic syndrome due to a mutation in PODXL. This gene encodes podocalyxin, a podocyte-specific surface sialomucin known to maintain the characteristic architecture of the foot processes and the patency of the filtration slits.
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Nefropatias , Síndrome Nefrótica , Podócitos , Humanos , Nefropatias/metabolismo , Glomérulos Renais/patologia , Síndrome Nefrótica/genética , Podócitos/metabolismoRESUMO
Background and Objectives: Hypertension and vascular damage can begin in adolescents affected by Autosomal Dominant Polycystic Kidney Disease (ADPKD). This study aimed to evaluate markers of vascular damage and left ventricular geometry in a sample of children with ADPKD. Materials and Methods: Several vascular measurements were obtained: ambulatory blood pressure monitoring (ABPM), carotid intima-media thickness (cIMT), carotid distensibility coefficient (cDC), pulse wave velocity (PWV), and echocardiographic measurements (relative wall thickness (RWT) and left ventricular mass index (LVMI)). Results: Eleven ADPKD children were recruited (four females and seven males, mean age 9.5 ± 3.2 years). Four children were hypertensive at the ABPM, five were normotensive, and for two ABPM was not available. RWT was tendentially high (mean 0.47 ± 0.39). Eight patients had concentric cardiac remodeling, while one patient had cardiac hypertrophy. cIMT was above the 95° percentile for sex and height in 80% of the children (0.5 ± 0.005 mm). The average PWV and cDC were between the normal range (5.5 ± 4.6 m/s and 89.6 ± 16.1 × 10-3/KPa, respectively). We observed a positive correlation between the PWV and RWT (r = 0.616; p = 0.044) and a negative correlation between cDC and RWT (r = -0.770; p = 0.015). Cardiovascular damages (cIMT > 95° percentile) were found in normotensive patients. Conclusions: Increased RWT and high cIMT, indicating subclinical organ damage, are already present in ADPKD children. RWT was significantly correlated to that of cDC and PWV, implying that vascular stiffening is associated with cardiac remodeling. None of the children had an alteration in renal function. Subclinical cardiovascular damage preceded the decline in glomerular filtration rate.
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Hipertensão , Rim Policístico Autossômico Dominante , Masculino , Feminino , Adolescente , Humanos , Criança , Rim Policístico Autossômico Dominante/complicações , Projetos Piloto , Espessura Intima-Media Carotídea , Monitorização Ambulatorial da Pressão Arterial , Análise de Onda de Pulso , Remodelação Ventricular , Hipertensão/complicações , Pressão Sanguínea , Hipertrofia Ventricular Esquerda/etiologiaRESUMO
BACKGROUND: The efficacy of continuous antibiotic prophylaxis in preventing urinary tract infection (UTI) in infants with grade III, IV, or V vesicoureteral reflux is controversial. METHODS: In this investigator-initiated, randomized, open-label trial performed in 39 European centers, we randomly assigned infants 1 to 5 months of age with grade III, IV, or V vesicoureteral reflux and no previous UTIs to receive continuous antibiotic prophylaxis (prophylaxis group) or no treatment (untreated group) for 24 months. The primary outcome was the occurrence of the first UTI during the trial period. Secondary outcomes included new kidney scarring and the estimated glomerular filtration rate (GFR) at 24 months. RESULTS: A total of 292 participants underwent randomization (146 per group). Approximately 75% of the participants were male; the median age was 3 months, and 235 participants (80.5%) had grade IV or V vesicoureteral reflux. In the intention-to-treat analysis, a first UTI occurred in 31 participants (21.2%) in the prophylaxis group and in 52 participants (35.6%) in the untreated group (hazard ratio, 0.55; 95% confidence interval [CI], 0.35 to 0.86; P = 0.008); the number needed to treat for 2 years to prevent one UTI was 7 children (95% CI, 4 to 29). Among untreated participants, 64.4% had no UTI during the trial. The incidence of new kidney scars and the estimated GFR at 24 months did not differ substantially between the two groups. Pseudomonas species, other non-Escherichia coli organisms, and antibiotic resistance were more common in UTI isolates obtained from participants in the prophylaxis group than in isolates obtained from those in the untreated group. Serious adverse events were similar in the two groups. CONCLUSIONS: In infants with grade III, IV, or V vesicoureteral reflux and no previous UTIs, continuous antibiotic prophylaxis provided a small but significant benefit in preventing a first UTI despite an increased occurrence of non-E. coli organisms and antibiotic resistance. (Funded by the Italian Ministry of Health and others; PREDICT ClinicalTrials.gov number, NCT02021006; EudraCT number, 2013-000309-21.).
Assuntos
Antibacterianos , Antibioticoprofilaxia , Infecções Urinárias , Refluxo Vesicoureteral , Feminino , Humanos , Lactente , Masculino , Antibioticoprofilaxia/efeitos adversos , Antibioticoprofilaxia/métodos , Glomerulonefrite , Análise de Intenção de Tratamento , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/tratamento farmacológico , Antibacterianos/administração & dosagem , Antibacterianos/efeitos adversos , Antibacterianos/uso terapêutico , Infecções Urinárias/etiologia , Infecções Urinárias/microbiologia , Infecções Urinárias/prevenção & controle , Farmacorresistência Bacteriana/efeitos dos fármacosRESUMO
Nephrotic syndrome (NS) is a common pediatric disease characterized by a dysfunction in the glomerular filtration barrier that leads to protein, fluid, and nutrient loss in urine. Corticosteroid therapy is the conventional treatment in children. Long-term complications of NS and prolonged exposure to steroids affect bones, growth, and the cardiovascular system. Diet can play an important role in preventing these complications, but there is a scarcity of scientific literature about nutritional recommendations for children with NS. They need individualized nutrition choices not only during the acute phase of the disease but also during remission to prevent the progression of kidney damage. The correct management of diet in these children requires a multidisciplinary approach that involves family pediatricians, pediatric nephrologists, dietitians, and parents.
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Líquidos Corporais , Nefrose Lipoide , Síndrome Nefrótica , Humanos , Criança , Síndrome Nefrótica/complicações , Barreira de Filtração GlomerularRESUMO
We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.
Assuntos
Perda Auditiva Neurossensorial , Hérnias Diafragmáticas Congênitas , Miopia , Humanos , Criança , Perda Auditiva Neurossensorial/genética , Miopia/genética , Hérnias Diafragmáticas Congênitas/diagnóstico , Proteinúria/diagnóstico , Proteína-2 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genéticaRESUMO
BACKGROUND: The first Covid-19 pandemic affected the epidemiology of several diseases. A general reduction in the emergency department (ED) accesses was observed during this period, both in adult and pediatric contexts. METHODS: This retrospective study was conducted on the behalf of the Italian Society of Pediatric Nephrology (SINePe) in 17 Italian pediatric EDs in March and April 2020, comparing them with data from the same periods in 2018 and 2019. The total number of pediatric (age 0-18 years) ED visits, the number of febrile urinary tract infection (UTI) diagnoses, and clinical and laboratory parameters were retrospectively collected. RESULTS: The total number of febrile UTI diagnoses was 339 (73 in 2020, 140 in 2019, and 126 in 2018). During the first Covid-19 pandemic, the total number of ED visits decreased by 75.1%, the total number of febrile UTI diagnoses by 45.1%, with an increase in the UTI diagnosis rate (+ 121.7%). The data collected revealed an increased rate of patients with two or more days of fever before admission (p = 0.02), a significant increase in hospitalization rate (+ 17.5%, p = 0.008) and also in values of C reactive protein (CRP) (p = 0.006). In 2020, intravenous antibiotics use was significantly higher than in 2018 and 2019 (+ 15%, p = 0.025). Urine cultures showed higher Pseudomonas aeruginosa and Enterococcus faecalis percentages and lower rates of Escherichia coli (p = 0.02). CONCLUSIONS: The first wave of the Covid-19 pandemic had an essential impact on managing febrile UTIs in the ED, causing an absolute reduction of cases referring to the ED but with higher clinical severity. Children with febrile UTI were more severely ill than the previous two years, probably due to delayed access caused by the fear of potential hospital-acquired Sars-Cov-2 infection. The possible increase in consequent kidney scarring in this population should be considered.
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COVID-19 , Infecções Urinárias , Adolescente , Adulto , Antibacterianos/uso terapêutico , Proteína C-Reativa , COVID-19/epidemiologia , Criança , Pré-Escolar , Surtos de Doenças , Serviço Hospitalar de Emergência , Escherichia coli , Febre/tratamento farmacológico , Febre/epidemiologia , Febre/etiologia , Humanos , Lactente , Recém-Nascido , Pandemias , Estudos Retrospectivos , SARS-CoV-2 , Infecções Urinárias/diagnósticoRESUMO
BACKGROUND: In recent years, several studies have been published on the prognosis of children with congenital solitary kidney (CSK), with controversial results, and a worldwide consensus on management and follow-up is lacking. In this consensus statement, the Italian Society of Pediatric Nephrology summarizes the current knowledge on CSK and presents recommendations for its management, including diagnostic approach, nutritional and lifestyle habits, and follow-up. We recommend that any antenatal suspicion/diagnosis of CSK be confirmed by neonatal ultrasound (US), avoiding the routine use of further imaging if no other anomalies of kidney/urinary tract are detected. A CSK without additional abnormalities is expected to undergo compensatory enlargement, which should be assessed by US. We recommend that urinalysis, but not blood tests or genetic analysis, be routinely performed at diagnosis in infants and children showing compensatory enlargement of the CSK. Extrarenal malformations should be searched for, particularly genital tract malformations in females. An excessive protein and salt intake should be avoided, while sport participation should not be restricted. We recommend a lifelong follow-up, which should be tailored on risk stratification, as follows: low risk: CSK with compensatory enlargement, medium risk: CSK without compensatory enlargement and/or additional CAKUT, and high risk: decreased GFR and/or proteinuria, and/or hypertension. We recommend that in children at low-risk periodic US, urinalysis and BP measurement be performed; in those at medium risk, we recommend that serum creatinine also be measured; in high-risk children, the schedule has to be tailored according to kidney function and clinical data.
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Nefrologia , Rim Único , Anormalidades Urogenitais , Criança , Feminino , Humanos , Lactente , Recém-Nascido , Rim , Gravidez , Fatores de Risco , Rim Único/congênito , Anormalidades Urogenitais/diagnósticoRESUMO
BACKGROUND: GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in Gsα result in constitutive cAMP stimulation. Recent research has described a clinical condition characterized by both gain and loss of Gsα function, due to a heterozygous de novo variant of the maternal GNAS allele. PATIENTS AND METHODS: We describe a girl with a complex combination of clinical signs and a new heterozygous GNAS variant. For the molecular analysis of GNAS gene, DNA samples of the proband and her parents were extracted from their peripheral blood samples. In silico analysis was performed to predict the possible in vivo effect of the detected novel genetic variant. The activity of Gsα protein was in vitro analyzed from samples of erythrocyte membranes, recovered from heparinized blood samples. RESULTS: We found a new heterozygous missense c.166A > T-(p.Ile56Phe) GNAS variant in exon 2, inherited from the mother that determined a reduced activity of 50% of Gsα protein function. The analysis of her parents showed a 20-25% reduction in Gsα protein activity in the mother and a normal function in the father. Clinically our patient presented a multisystemic disorder characterized by hyponatremia compatible with a nephrogenic syndrome of inappropriate antidiuresis, subclinical hyperthyroidism, subclinical hypercortisolism, precocious thelarche and pubarche and congenital bone abnormalities. CONCLUSIONS: This is the first time that the new variant c.166A > T (p.Ile56Phe) on exon 2 of GNAS gene, originated on maternal allele, has been described as probable cause of a multisystemic disorder. Although the mutation is associated with a reduced activity of the function of Gsα protein, this unusual phenotype on the contrary suggests a mild functional gain.
Assuntos
Cromograninas , Pseudo-Hipoparatireoidismo , Cromograninas/genética , Éxons , Feminino , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Heterozigoto , Humanos , Mutação , Pseudo-Hipoparatireoidismo/genéticaRESUMO
Suprasellar arachnoid cysts represent a rare occurrence in the pediatric population and usually cause symptoms related to mass effect and can occasionally cause endocrine dysfunctions. The association between SAC and the syndrome of inappropriate antidiuretic hormone (SIADH) in the pediatric population has rarely been described previously. In most cases, SIADH is temporary and resolves by treating the underlying cause. The first-line treatment consists of fluid restriction in asymptomatic children. Oral urea and demeclocycline are other effective treatment options. Vaptans are a new class of medication for the management of SIADH. These agents are a nonpeptide vasopressin V2 receptor antagonist that selectively antagonizes the antidiuretic effect of AVP, resulting in excretion of diluted urine or "aquaresis." Their efficacy has been shown in adult patients with euvolemic or hypervolemic hyponatremia. However, evidence is lacking in pediatric patients with SIADH. We report the case of a 9-year-old female child with a SAC, who underwent endoscopic fenestration at the age of 2 years. After surgery she developed chronic hyponatremia due to SIADH. Hyponatremia was refractory to treatment with fluid restriction, oral sodium, and urea. In order to normalize serum sodium levels, tolvaptan treatment was started on a compassionate-use basis; 24-48 h later serum sodium levels returned to normal. To date, tolvaptan has been used regularly for 6 years with no side effects occurring during the treatment period. This is the first case of a child with chronic SIADH secondary to SAC successfully treated with tolvaptan. Further studies are needed to demonstrate its usefulness on a broader case series.
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AIM: Our aim was to update the recommendations for the diagnosis, treatment and follow-up of the first febrile urinary tract infection in young children, which were endorsed in 2012 by the Italian Society of Pediatric Nephrology. METHODS: The Italian recommendations were revised on the basis of a review of the literature published from 2012 to October 2018. We also carried out an ad hoc evaluation of the risk factors to identify children with high-grade vesicoureteral reflux or renal scarring, which were published in the previous recommendations. When evidence was not available, the working group held extensive discussions, during various meetings and through email exchanges. RESULTS: Four major modifications have been introduced. The method for collecting urine for culture and its interpretation has been re-evaluated. We have reformulated the algorithm that guides clinical decisions to proceed with voiding cystourethrography. The suggested antibiotics have been revised, and we have recommended further restrictions of the use of antibiotic prophylaxis. CONCLUSION: These updated recommendations have now been endorsed by the Italian Society of Pediatric Nephrology and the Italian Society for Pediatric Infectivology. They can also be used to compare other recommendations that are available, as a worldwide consensus in this area is still lacking.
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Infecções Urinárias , Refluxo Vesicoureteral , Criança , Pré-Escolar , Febre/diagnóstico , Febre/etiologia , Febre/terapia , Seguimentos , Humanos , Lactente , Itália , Infecções Urinárias/diagnóstico , Infecções Urinárias/tratamento farmacológico , Refluxo Vesicoureteral/diagnóstico , Refluxo Vesicoureteral/terapiaRESUMO
BACKGROUND: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is caused by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII gene encoding the AVP preprohormone. AIM: To describe the clinical and molecular features of Italian unrelated families with central diabetes insipidus. PATIENTS AND METHODS: We analyzed AVP-NPII gene in 13 families in whom diabetes insipidus appeared to be segregating. RESULTS: Twenty-two patients were found to carry a pathogenic AVP-NPII gene mutation. Two novel c.173 G>C (p.Cys58Ser) and c.215 C>A (p.Ala72Glu) missense mutations and additional eight different mutations previously described were identified; nine were missense and one non-sense mutation. Most mutations (eight out of ten) occurred in the region encoding for the NPII moiety; two mutations were detected in exon 1. No mutations were found in exon 3. Median age of onset was 32.5 months with a variability within the same mutation (3 to 360 months). No clear genotype-phenotype correlation has been observed, except for the c.55 G>A (p.Ala19Thr) mutation, which led to a later onset of disease (median age 120 months). Brain magnetic resonance imaging (MRI) revealed the absence of posterior pituitary hyperintensity in 8 out of 15 subjects, hypointense signal in 4 and normal signal in 2. Follow-up MRI showed the disappearance of the posterior pituitary hyperintensity after 6 years in one case. CONCLUSION: adNDI is a progressive disease with a variable age of onset. Molecular diagnosis and counseling should be provided to avoid unnecessary investigations and to ensure an early and adequate treatment.
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Diabetes Insípido Neurogênico/diagnóstico por imagem , Diabetes Insípido Neurogênico/genética , Mutação/genética , Neurofisinas/genética , Precursores de Proteínas/genética , Vasopressinas/genética , Adolescente , Adulto , Criança , Pré-Escolar , Diabetes Insípido Neurogênico/sangue , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Neurofisinas/sangue , Linhagem , Precursores de Proteínas/sangue , Vasopressinas/sangue , Adulto JovemAssuntos
Anormalidades Múltiplas/genética , Coloboma/genética , Mutação de Sentido Incorreto , Vítreo Primário Hiperplásico Persistente/genética , Fatores de Processamento de RNA/genética , Proteínas Repressoras/genética , Pré-Escolar , Humanos , Iris/anormalidades , Masculino , Nervo Óptico/anormalidades , Linhagem , Retina/anormalidadesRESUMO
A shear wave velocity (SWV) value obtained by the acoustic radiation force impulse technique depends on tissue elasticity. We investigated the relationship between SWV values and the estimated glomerular filtration rate (eGFR) in children with chronic kidney disease. A total of 29 patients were enrolled in the study. There were 18 primary and 11 secondary cases of vesicoureteral reflux. eGFR was calculated using Schwartz's formulas (2012). Partial eGFR for each kidney was assessed by multiplying the eGFR by the percentage of renal function measured by means of renal (99m)Tc-dimercaptosuccinic acid scintigraphy. All ultrasound tests were done by a single qualified technician using a convex probe (frequency 4 MHz) on an S-2000 system. The mean SWV values of the two kidneys were significantly and negatively correlated with eGFR calculated with both univariate (cystatin C [Cys C] and multivariate (creatinine, Cys C, and nitrogen) equations. Of all the formulae, the strongest correlation was obtained with eGFR (Cys C). SWV of the renal cortex correlates with the eGFR of patients affected by malformative uropathies. Nevertheless, this technique needs standardization and validation.
Assuntos
Insuficiência Renal Crônica , Criança , Creatinina , Cistatina C , Taxa de Filtração Glomerular , Humanos , RimRESUMO
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila. RESULTS: We found increased expression of components and targets of the Wnt and Notch signaling pathways in the SIOD patient kidney, increased levels of unphosphorylated ß-catenin and Notch1 intracellular domain in the glomeruli of most SIOD patient kidneys, and genetic interaction between the Drosophila SMARCAL1 homologue Marcal1 and genes of the Wnt and Notch signaling pathways. CONCLUSIONS: We conclude that increased Wnt and Notch activity result from SMARCAL1 deficiency and, as established causes of FSGS, contribute to the renal disease of most SIOD patients. This further clarifies the pathogenesis of SIOD and will hopefully direct potential therapeutic approaches for SIOD patients.
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Arteriosclerose/metabolismo , Glomerulosclerose Segmentar e Focal/metabolismo , Síndromes de Imunodeficiência/metabolismo , Nefropatias/metabolismo , Síndrome Nefrótica/metabolismo , Osteocondrodisplasias/metabolismo , Embolia Pulmonar/metabolismo , Receptores Notch/metabolismo , Proteínas Wnt/metabolismo , Animais , Arteriosclerose/genética , Criança , Pré-Escolar , DNA Helicases/genética , DNA Helicases/metabolismo , Drosophila melanogaster/genética , Drosophila melanogaster/metabolismo , Técnica Indireta de Fluorescência para Anticorpo , Glomerulosclerose Segmentar e Focal/genética , Humanos , Síndromes de Imunodeficiência/genética , Nefropatias/genética , Masculino , Síndrome Nefrótica/genética , Osteocondrodisplasias/genética , Doenças da Imunodeficiência Primária , Embolia Pulmonar/genética , Proteínas Wnt/genéticaRESUMO
Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of the T-cell immunodeficiency is unclear. Here, we demonstrate that the T cells of SIOD patients have undetectable levels of protein and mRNA for the IL-7 receptor alpha chain (IL7Rα) and are unresponsive to stimulation with IL-7, indicating a loss of functional receptor. No pathogenic mutations were detected in the exons of IL7R in these patients; however, CpG sites in the IL7R promoter were hypermethylated in SIOD T cells. We propose therefore that the lack of IL7Rα expression, associated with hypermethylation of the IL7R promoter, in T cells and possibly their earlier progenitors, restricts T-cell development in SIOD patients.
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Arteriosclerose/genética , Síndromes de Imunodeficiência/genética , Síndrome Nefrótica/genética , Osteocondrodisplasias/genética , Embolia Pulmonar/genética , Receptores de Interleucina-7/genética , Linfócitos T/metabolismo , Adolescente , Adulto , Arteriosclerose/metabolismo , Arteriosclerose/patologia , Células Cultivadas , Criança , Pré-Escolar , DNA Helicases/genética , Metilação de DNA , Citometria de Fluxo , Expressão Gênica , Humanos , Imuno-Histoquímica , Síndromes de Imunodeficiência/metabolismo , Síndromes de Imunodeficiência/patologia , Interleucina-17/farmacologia , Leucócitos Mononucleares/efeitos dos fármacos , Leucócitos Mononucleares/metabolismo , Mutação , Síndrome Nefrótica/metabolismo , Síndrome Nefrótica/patologia , Osteocondrodisplasias/metabolismo , Osteocondrodisplasias/patologia , Doenças da Imunodeficiência Primária , Regiões Promotoras Genéticas/genética , Embolia Pulmonar/metabolismo , Embolia Pulmonar/patologia , Receptores de Interleucina-7/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sequência de DNA , Adulto JovemRESUMO
For centuries, clinicians have used palpation to evaluate abdominal organs. After exploring almost all the different methods of interaction between x-rays, ultrasound, and magnetic fields on tissues, recent interest has focused on the evaluation of their mechanical properties.Acoustic radiation force impulse (ARFI) is a recent, established ultrasound-based diagnostic technique that allows physicians to obtain a measure of the elastic properties of an organ. Shear wave velocity, obtained by the ARFI technique, depends on the elasticity of tissues.To date, there are studies on the ARFI technique applied to normal kidneys, chronic kidney diseases, and kidney transplants. Mechanical properties of the kidney, such as stiffness and deformity, depend on various conditions that alter its histology, in particular the amount of fibrosis in the renal parenchyma; urinary pressure and renal blood perfusion may be other important contributing factors. Unfortunately, the ARFI technique applied to native renal pathologies is still limited, and not all studies are comparable because they used different methods. Therefore, the results reported in recent literature encourage further improvement of this method and the drawing up of standardized guidelines of investigation.