scholarly journals Attualità in nefrologia pediatrica: le conoscenze di rilievo per il nefrologo dell’adulto

2021 ◽  
Vol 33 ◽  
pp. 67-76
Author(s):  
Alberto Edefonti ◽  
Antonio Vergori ◽  
Giovanni Montini ◽  
Francesco Emma

Examples of innovative research in pediatric nephrology include: a) the typically pediatric field of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), which has benefited from the discovery of numerous gene mutations responsible for the various malformations and the demonstration of the congenital origin of most of the renal damage, resulting in a decrease of invasive imaging, antibiotic prophylaxis and surgery; b) the approach to glomerular diseases that appear in childhood, like idiopathic nephrotic syndrome (INS), IgA nephropathy (IgAN) and C3 glomerulopathies (C3G). B and T lymphocyte disregulations and molecular podocyte alterations of immunological and genetic origin have been described in INS as main determinants of proteinuria. In IgAN, the discovery of an abnormal IgA glycosilation in the mucosal B cells has driven to new trials with Budesonide and Sparsentan and to innovative therapies, like atacicept. A new classification of C3G has been proposed after the description of genetic mutations of factors inhibiting activation of the alternative complement pathway, and monoclonal anti-C5 antibody Eculizumab has consequently entered the therapeutic armamentarium; c) the initial attempts at gene therapy, with promising results obtained in Alport syndrome, nephropathic cystinosis and Dent syndrome. Moreover, a clear example of precision medicine is represented by the refinement of the dosage of Eculizumab in the treatment of atypical HUS, while slow-medicine recommendations exist for common clinical conditions, like urinary tract infections, microscopic hematuria and proteinuria.  

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Dina Ismail ◽  
Vidya Madhwapathi ◽  
Evmorfia Ladoyanni

Hyperhidrosis affects almost 3% of the population and is characterized by sweating that occurs in excess of that needed for normal thermoregulation. It can occur as a primary disease or secondary to underlying clinical conditions. Hyperhidrosis can stem from neurogenic sympathetic over activity involving normal eccrine glands. We report the interesting case of a 75-year-old male patient with a 6-month history of new onset secondary focal hyperhidrosis of buttocks, pelvis, and upper thighs. Each time his symptoms worsened he was found to have culture positive urine samples forEscherichia coli(E. coli). He underwent urological investigation and was found to have urethral strictures and cystitis. The hyperhidrosis improved each time his urinary tract infection (UTI) was treated with antibiotics and continued to remain stable with a course of prophylactic trimethoprim. We hypothesize that the patient’s urethral strictures led to inhibition in voiding which in turn increased the susceptibility to UTIs. Accumulation of urine and increased bladder pressure in turn raised sympathetic nerve discharge leading to excessive sweating. We recommend that a urine dip form part of the routine assessment of patients presenting with new onset focal hyperhidrosis of pelvis, buttocks, and upper thighs. Timely urological referral should be made for all male patients with recurrent UTI. To the authors’ knowledge, there have been no other reports of UTI-associated focal hyperhidrosis.


Author(s):  
Patricia L. Weng ◽  
Katherine Wesseling Perry

This chapter on pediatric nephrology and urology examines normal renal physiology and urological anatomy along with common manifestations of renal and urological dysfunction in children. It reviews the clinical presentation, diagnosis, and management of fluid, electrolyte, and acid-base disorders. It describes the presentation and management of glomerular diseases associated with proteinuria, hematuria, and chronic kidney disease. Inherited diseases and syndromes affecting the kidney, bladder, and urinary tract are described. In addition, age-related changes in glomerular filtration, common pathogens associated with urinary tract infection, the diagnosis and management of inguinal masses and vaginal discharge, and the management of acute kidney injury are discussed. This chapter is written for pediatric residents in training.


2013 ◽  
Vol 59 (1) ◽  
pp. 28-30
Author(s):  
Zsuzsanna Moréh ◽  
Lucia Sanda Voicu

Abstract Introduction: Congenital malformations of the urinary system are risk factors for the development of urinary tract infections (UTI). Besides the severity of the malformation, urinary infection is always associated with poor prognosis for these patients. Late discovery of the malformation background, after several urinary tract infection episodes, contributes to the development of chronic pyelonephritis that may lead to chronic renal failure. Material and method: The study involved patients with renal and urinary tract congenital malformations treated at the Pediatric Nephrology Department from Tîrgu Mureș over a period of 6 years, who associated urinary tract infection. Results: Out of the total of 432 patients with congenital malformations of the urinary system, 270 had had at least one or several episode(s) of urinary tract infections in their medical history. Vesico-ureteral reflux and obstructive lesions of the urinary tract were most frequently associated with urinary infections. During the time when no ultrasound screening had been performed, the malformation background was usually diagnosed at the time of the first urinary infection episodes. Conclusions: The incidence of urinary tract infections in patients with renal and urinary tract congenital malformations depends on the type of the underlying malformation, and the time of diagnosis of the malformation background. Prevention of irreversible complications requires early diagnosis of the urinary system malformations that can be performed through ultrasound screening in the neonatal period.


2021 ◽  
Vol 3 (2) ◽  
Author(s):  
Claudia M. Barberis ◽  
Germán M. Traglia ◽  
Marisa N. Almuzara ◽  
Danilo J. P. G. Rocha ◽  
Carolina S. Santos ◽  
...  

Corynebacterium spp. are Gram-positive rods that are recognized to cause opportunistic diseases under certain predisposing clinical conditions. Some species have been described in urinary tract infections. In this report we document a new episode of urinary tract infection caused by Corynebacterium phoceense and describe the whole-genome sequencing, phenotypic characteristics and mass spectra obtained by matrix-assisted desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Based on genome identification and DNA-to-DNA hybridization, we can assume that our strain is the second isolate of C. phoceense to be described in a urine sample. No other infectious diseases have been reported to be associated with this species.


2021 ◽  
Vol 32 (01) ◽  
pp. 32-36
Author(s):  
Farzana Latif ◽  
Rai Muhammad Hammad Arif ◽  
Arif Zaheer ◽  
Agha Shabbir Ali

BACKGROUND: Haematuria is the most common urinary finding that bring children to the attention of the paediatric nephrologists. It can be caused by glomerular & non-glomerular diseases. The main causes of Haematuria are urinary tract infections, trauma to abdomen, acute post streptococcal glomerulonephritis and congenital hydronephrosis. OBJECTIVE: The objective of this study was to identify the distribution of factors in children with haematuria in age group of 1 to 14 years METHODS: A total of 84 admitted patients of haematuria, who fulfill the inclusive criteria,were enrolled in this study after consent from their parents. Each patient was evaluated through history, examination and investigated. Urine sample of each patient was analyzed for a microscopic examination. Investigations / imaging were performed in clinical laboratory of LGH / PGMI, Lahore. The collected information was entered into SPSS version 20, and analyzed. RESULTS:  There were 47(44.05%) male and 37(55.95%) female patients in this study. The mean age of patients was 8.69 ± 3.63 years.We found 14 patients (16.66%) has urological anomalies,6 boys have posterior urethral valves.2 girls and one boy has vesicoureteral reflux.One boy and one girl has ureterovesical junction obstruction,one boy has hypospadias and 2 girls , ureteropelvic junction obstruction.History of recent bladder catheterization was seen in 5(5.59%), urinary tract infection 17(20.23%) and 14 patients has urological anomalies(16.66%). CONCLUSION: According to this study ,most common factors causing haematuria was urinary tract infection 17(20.23%) , acute poststreptococcal glomerulonephritis 16(19.04%) and congenital urological anomalies 14(16.66%).Renal stones were found in 10(11.90%).   


2020 ◽  
pp. 927-932
Author(s):  
I TROCHANOVÁ ◽  
D STANÍKOVÁ ◽  
M ŠKOPKOVÁ ◽  
K HAŠTOVÁ ◽  
D GAŠPERÍKOVÁ ◽  
...  

MEHMO syndrome is a rare X-linked syndrome characterized by Mental retardation, Epilepsy, Hypogenitalism, Microcephaly, and Obesity associated with the defect of protein synthesis caused by the EIF2S3 gene mutations. We hypothesized that the defect in protein synthesis could have an impact on the immune system. We describe immunologic phenotype and possible treatment outcomes in patient with MEHMO syndrome carrying a frame-shift mutation (I465fs) in the EIF2S3 gene. The proband (currently 9-year-old boy) had normal IgG and IgM levels, but had frequent respiratory and urinary tract infections. On subcutaneous immunoglobulin therapy achieving supra-physiological IgG levels the frequency of infections significantly decreased in Poisson regression by 54.5 % (CI 33.2-89.7, p=0.017). The MEHMO patient had had frequent acute infections despite normal IgG and IgM serum levels and responded well to the immunoglobulin treatment.


2012 ◽  
Vol 52 (3) ◽  
pp. 170
Author(s):  
Risky Vitria Prasetyo ◽  
Ninik Asmaningsih Soemyarso ◽  
Mohammad Sjaifullah Noer

Background Urinary tract infections (UTIs) are the secondleading cause of infection in children, following respiratorytract infections. Repeat urine cultures after antibiotic treatmentare routinely obtained in clinical practice to verify proof ofbacteriologic cure. The American Academy of Pediatrics doesnot recommended repeat cultures, due to increased cost anddiscomfort to patients.Objective To determine the frequency of positive repeat urinecultures after 3 days of antibiotics in children 'With UTIs.Methods We conducted a retrospective study on childrenwith UTIs who visited the Division of Pediatric Nephrology,Department of Child Health at Dr. Soetomo Hospital, Surabayafrom January 2006 to December 2011. Results of repeat urinecultures were obtained after 3 days of antibiotic treatment.Descriptive statistics were used to analyze the data.Results Of the 779 pediatric UTI cases, repeat urine cultureswere performed in 264 (33.9%) cases. Of the 264 patients whocomprised our study, there were similar numbers of girls and boys(50.4% vs. 49.6%, respectively). The mean age of patients was43.9 (SD 1.59) months and 35.5% of subjects were aged under 1year. In the initial urine cultures of our subjects, Escherichia coliwas the most common organism found, v,ith 92 cases (34.8%),compared to 58 cases (21.9%) of Klebsiella pneumoniae and 29cases (10.9%) of Pseudom.onas aeruginosa. Repeat urine culturesshowed no bacterial growth in 168 cases (63.6%).Conclusion Mostly negative repeat urine cultures v,ill probablyobviate the need of this test in daily routine practice. [PaediatrIndanes.2012,52:170·4].


2007 ◽  
Vol 177 (4S) ◽  
pp. 102-103
Author(s):  
Shinya Uehara ◽  
Koichi Monden ◽  
Koichiro Wada ◽  
Ayano Ishii ◽  
Reiko Kariyama ◽  
...  

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