Scielo RSS http://scielo.pt/rss.php?pid=0872-016920210003&lang=pt vol. 35 num. 3 lang. pt http://scielo.pt/img/en/fbpelogp.gif http://scielo.pt http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300142&lng=pt&nrm=iso&tlng=pt http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300144&lng=pt&nrm=iso&tlng=pt ABSTRACT Molecular genetic testing in human traits has traditionally relied on affiliated academic facilities, been focused on specific phenotypes and supported by research funding. We report the experience of the Kidney Genetics Clinic (“consulta de Doenças Renais Hereditárias”) for the past 5 years, a period during which we have outsourced genetic testing. We evaluated the impact of molecular testing in patients’ care, but we also assessed disease‑specific imaging procedures and medicines provided. During the study period, 293 individuals were evaluated. Autosomal Dominant Polycystic Kidney Disease was the most frequent diagnosis (61.8%). In 125 patients, a genetic test was available, and for 76 of these (60.8%) a pathogenic/likely pathogenic variant was identified. Depending on the phenotype, the mutation detection rate ranged from 100% (Tuberous Sclerosis Complex) to 15.4% (Autosomal Dominant Tubulointerstitial Kidney Disease). The impact of genetic testing on patients’ diagnosis and treatments is discussed. Total kidney volume was calculated in 6 patients with Autosomal Dominant Polycystic Kidney Disease and the combined volume for selected angiomyolipoma monitored in 3 individuals with the Tuberous Sclerosis Complex. Currently, 4 patients are being treated with Everolimus/Votubia™, 3 with Eculizumab/Soliris™ and 2 with Tolvaptan/Jinarc™. Our results demonstrate the feasibility of genetic molecular testing in a clinical setting while relying on outsourced sites for gene testing. We emphasize that it was only because the Kidney Genetics Clinic was given the opportunity to look after several patients affected by the same specific orphan or rare diseases (cohort enrichment) that we were able to improve diagnostic skills and deliver personalized medicines. http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300153&lng=pt&nrm=iso&tlng=pt ABSTRACT Aims: Assess the incidence of COVID-19 during the first wave of the pandemic in 40 hemodialysis units in Spain. Material and methods: We analyzed 396 Rt-PCR performed March 14th to April 28th, 2020 in a cohort of 2398 hemodialysis (HD) patients corresponding to 19 hospital units and 21 satellite centers. Results: We performed Rt-PCR in 14% of the patients, with a marked variability depending on the location. The overall COVID-19 incidence was 3.2% (range 0-15.9%). It was significantly higher in the hospital units (4.5%) than in the satellite units (1.9%) (p=0.0003). There was a positive and significant correlation between the COVID-19 incidence in the units and their proximity to Madrid (R2=0.6235, p=0.0013), which was the main epidemic focus. Conclusion: Our study showed a low incidence of COVID-19 in HD, higher in hospital units and closer to Madrid. http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300160&lng=pt&nrm=iso&tlng=pt ABSTRACT Objective: Permanent access in the form of a fistula is the preferred form of vascular access for most pediatric patients on maintenance hemodialysis (HD) therapy; however, the technical aspects of the procedure that are unique to the pediatric population, the expectation of a short waiting time for kidney transplantation and the need to cannulate every other day (with the pain and fear associated with it) limit its use. Our objective was to analyze the long-term outcomes of pediatric arteriovenous fistulas in our institution. Methods: A retrospective review was performed of all arteriovenous fistula (AVF) created in a HD population aged 0 to 18 years at a single institution from 2007 to 2019. Data abstracted included age, weight, etiology of renal failure, time on dialysis, central venous catheter history and transplantation history. Data were analyzed to determine the primary and secondary patency. Results: During the study period, 19 AVFs were performed in 16 patients, of whom 9 patients (56.3%) were male. Mean patient age was 12.3 years (range 5-17 years), and mean weight was 38.3kg (range 12-83kg). At the time of AVF creation, 9 patients were on dialysis and 7 patients had a central venous catheter (CVC), with a median length of CVC dependence of 10 months. Procedures performed included 4 radiocephalic fistulas, 11 brachiocephalic fistulas and 4 brachiobasilic. Five accesses failed to mature (26.3%). Mean follow-up was 6 years. The 2-year primary and secondary patency rates were 92.3% and 100%, respectively. The 4-year primary and secondary patency rates were 76.9% and 100%, respectively. No thrombosis was documented during follow-up. During the postoperative period, 10 patients (62.5%) received a kidney transplant, in a mean time of 23 months. Conclusions: AVFs demonstrate excellent long-term patency in pediatric HD patients. No significant complications were reported and no thrombosis occurred. http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300164&lng=pt&nrm=iso&tlng=pt ABSTRACT Introduction: Antenatal hydronephrosis (ANH) is common in fetal ultrasounds. Though mostly transient, it can be associated with congenital abnormalities and kidney injury. The authors went to assess the evolution of children with ANH and identify risk groups. Methods: Retrospective cohort study of children with ANH from 2013‑2017. Renal pelvis anteroposterior diameter (APD) of 4 and 7mm or more in the second and third trimester, respectively, defined diagnosis of ANH. APD also defined severity stratification. The primary outcomes included occurrence of urinary tract infection (UTI) and congenital anomalies of the kidney and urinary tract (CAKUT). Results: We identified 198 cases, with male predominance (76.8%) and a 2.1% incidence. It resolved antenatally in 12.1%, with a lower mean value of APD in these cases (p=0.017), and persisted in 43.4%. CAKUT were found in 8.6% of the patients. At least 1 episode of UTI occurred in 9.1% of patients during follow‑up. The degree of ANH in the 3rd trimester was related to postnatal persistence and degree (p<0.001) and the postnatal degree was related to the occurrence of UTI (p=0.008). The 3rd trimester and postnatal degree were also associated to the presence of CAKUT (p=0.036; p=0.001), although not with vesicoureteral reflux (VUR). The persistence of ANH through the 2nd and 3rd trimester was related to postnatal persistence (p=0.002) and degree (p=0.007), and the presence of CAKUT excluding VUR (p=0.034). The optimal cut‑off for the APD in the 3rd trimester to predict the occurrence of negative outcomes (CAKUT and/or UTI), through a receiver operating characteristic (ROC) curve, was 8.225mm with 76% sensitivity and 59% specificity. Discussion: ANH is frequent and reflects a wide range of conditions, requiring follow‑up. Most cases resolve spontaneously and require no further intervention other than ultrasounds. 3rd trimester and postnatal degree are related to prognosis, allowing the definition of risk groups and the improvement of patient management. http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300179&lng=pt&nrm=iso&tlng=pt ABSTRACT Cardiovascular disease continues to be the most frequent cause of death in peritoneal dialysis patients and an important obstacle for the improvement of technique survival. Heart failure diagnosis and management is particularly challenging among dialysis patients, and this condition remains underdiagnosed and undertreated in this population. The most common phenotype of heart failure among peritoneal dialysis patients is heart failure with preserved ejection fraction, diastolic disfunction and left ventricular hypertrophy. Unfortunately, unlike what happens with heart failure with reduced ejection fraction, there is lack of evidence to support a specific drug regimen to treat heart failure with preserved ejection fraction. Several conditions associated with end stage kidney disease, such as anemia, hyperphosphatemia, secondary hyperparathyroidism, inflammation, and insulin resistance seem to be involved in the pathogenesis of heart failure with preserved ejection fraction and for this reason, the term uremic cardiomyopathy has been proposed. There is a lack of evidence regarding the optimal heart failure treatment for peritoneal dialysis patients and more studies are needed to assess the efficacy and safety of the new drugs available for heart failure treatment. This review explores the spectrum of heart failure on peritoneal dialysis, its pathogenesis, risk factors and possible therapeutic and preventive measures. http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300192&lng=pt&nrm=iso&tlng=pt ABSTRACT SARS-Cov2 infection is a highly transmissible disease associated with serious pulmonary disease. Renal involvement is frequent and associated with poor prognosis; however, mechanisms of kidney injury are not well established. We present a SARS-Cov2 patient with severe acute kidney injury. Kidney biopsy findings revealed a pattern of acute tubular necrosis with isometric vacuolization of the proximal tubule. The interstitium and glomeruli were normal. Electronic microscopy showed multiple viral-like particles in both the glomeruli and proximal tubule. This case study shows how SARS-Cov 2 infection can result in different kinds of kidney lesion. http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300196&lng=pt&nrm=iso&tlng=pt ABSTRACT Ureteral obstruction (ureteropelvic or ureterovesical junction obstruction) is frequently diagnosed during the workup investigation of na asymptomatic infant or child with upper urinary tract dilatation, commonly identified in a prenatal ultrasound. In older children, recurrent lumbar pain is a red flag for ureteral obstruction. Although less frequent, hypertension may be the initial and only manifestation of ureteral obstruction. The authors present two pediatric cases of unilateral ureteral obstruction with hypertension, in which the surgical treatment of the obstruction leads to blood pressure normalisation. In all pediatric age groups, a systematic investigation for secondary causes of hypertension is of paramount importance. In some cases, especially those of an obstructive nature, early surgical management can be curative, with normalization of blood pressure levels and prevention of renal injury. http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300203&lng=pt&nrm=iso&tlng=pt ABSTRACT Alagille syndrome (AGLS) is a rare genetic disorder caused by mutations in the Notch signaling pathway. Multiple organ dysfunction is frequent despite phenotypic variability. We report the case of an AGLS patient with right heart failure and persistent fluid overload who started peritoneal ultrafiltration, without initial benefit. Possible pathophysiological mechanisms related to the underlying genetic condition, namely vascular abnormalities, that could help explain the poor ultrafiltration are provided, while other ultrafiltration failure causes are briefly discussed. New evidence is necessary for a better understanding of this syndrome in PD modality.