Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of malformation at birth and represent the cause of 40-50% of pediatric and 7% of adult end-stage renal disease ...worldwide. The pathogenesis of CAKUT is based on the disturbance of normal nephrogenesis, secondary to environmental and genetic causes. Often CAKUT is the first clinical manifestation of a complex systemic disease, so an early molecular diagnosis can help the physician identify other subtle clinical manifestations, significantly affecting the management and prognosis of patients. The number of sporadic CAKUT cases explained by highly penetrant mutations in a single gene may have been overestimated over the years and a genetic diagnosis is missed in most cases, hence the importance of identifying new genetic approaches which can help unraveling the vast majority of unexplained CAKUT cases. The aim of our review is to clarify the current state of play and the future perspectives of the genetic bases of CAKUT.
Background
Subjects with a congenital solitary kidney (CSK) are believed to be at risk of hypertension due to their low number of nephrons. However, as CSK is a congenital abnormality of the kidney ...or urinary tract (CAKUT), subtle dysplastic changes contributing to hypertension cannot be excluded.
Methods
We retrospectively compared office blood pressure (OBP) and ambulatory blood pressure monitoring (ABPM) between two groups of children with CAKUT, aged 6–18 years: Group A with a CSK and Group B with two kidneys. All had normal renal parenchyma on scintigraphy and normal renal function. OBP and mean systolic and diastolic 24-h, daytime and nighttime ambulatory BP records were analyzed. The distribution of OBP and APBM as continuous values and the prevalence of hypertension (ambulatory/severe ambulatory or masked hypertension) in the two groups were compared.
Results
There were 81 patients in Group A and 45 in Group B. Median OBP standard deviation scores were normal in both groups, without significant differences. Median ABPM standard deviation scores, although normal, were significantly higher in Group A and the prevalence of hypertension was higher (ambulatory/severe ambulatory or masked) (33.3 vs. 13.3%,
p
= 0.019), mainly because of the greater occurrence of masked hypertension.
Conclusions
Our data show that a CSK per se can be associated with an increased risk of hypertension from the pediatric age. Therefore, ABPM, which has proved valuable in the screening of hypertension, is warranted in children with a CSK, even if laboratory and imaging assessment is otherwise normal.
Primary hyperoxaluria type 1 (PH1) is a rare disease with autosomal recessive transmission, characterized by increased urinary excretion of oxalate, resulting in chronic kidney disease secondary to ...recurrent urolithiasis, nephrocalcinosis, and accumulation of oxalate in various organs and tissues (systemic oxalosis). Since 2020, an innovative pharmacological approach, namely, lumasiran, has been added to the therapeutic armamentarium (dialysis and liver-kidney transplantation). The purpose of this paper is to describe the effect of lumasiran initiated at 10 days of life in a newborn with prenatally diagnosed PH1. A female fetus was prenatally diagnosed with hyperoxaluria type 1, based on family history and genetic testing. Her brother had the onset of the disease at 2 months of age and underwent liver and kidney transplantation at 13 months and 8 years of age, respectively. The baby was born late preterm at 36 weeks + 4 days of gestation via spontaneous labor, and lumasiran for compassionate use was started on the tenth day of life. At 20 months of age, the baby showed normal urinary oxalate values and kidney function, while the plasma oxalate level was under the threshold of oversaturation. There were no signs of systemic oxalosis.
Early use of lumasiran in young infants, who do not yet show signs of the disease, represents a therapeutic challenge for the pediatric nephrologist. The ability of the drug to act on the hepatocyte of the newborn and the most appropriate dosage to be used in these very young babies have yet to be clarified.
Prevention of postnatal growth restriction of very preterm infants still represents a challenge for neonatologists. As standard feeding regimens have proven to be inadequate. Improved feeding ...strategies are needed to promote growth. Aim of the present study was to evaluate whether a set of nutritional strategies could limit the postnatal growth restriction of a cohort of preterm infants.
We performed a prospective non randomized interventional cohort study. Growth and body composition were assessed in 102 very low birth weight infants after the introduction of a set of nutritional practice changes. 69 very low birth weight infants who had received nutrition according to the standard nutritional feeding strategy served as a historical control group. Weight was assessed daily, length and head circumference weekly. Body composition at term corrected age was assessed using an air displacement plethysmography system. The cumulative parenteral energy and protein intakes during the first 7 days of life were higher in the intervention group than in the historical group (530 ± 81 vs 300 ± 93 kcal/kg, p<0.001 and 21 ± 2.9 vs 15 ± 3.2 g/kg, p<0.01). During weaning from parenteral nutrition, the intervention group received higher parental/enteral energy and protein intakes than the historical control group (1380 ± 58 vs 1090 ± 70 kcal/kg; 52.6 ± 7 vs 42.3 ± 10 g/kg, p<0.01). Enteral energy (kcal/kg/d) and protein (g/kg/d) intakes in the intervention group were higher than in the historical group (130 ± 11 vs 100 ± 13; 3.5 ± 0.5 vs 2.2 ± 0.6, p<0.01). The negative changes in z score from birth to discharge for weight and head circumference were significantly lower in the intervention group as compared to the historical group. No difference in fat mass percentage between the intervention and the historical groups was found.
The optimization and the individualization of nutritional intervention promote postnatal growth of preterm infants without any effect on percentage of fat mass.
Preterm small for gestational age (SGA) infants may be at risk for increased adiposity, especially when experiencing rapid postnatal weight gain. Data on the dynamic features of body weight and fat ...mass (FM) gain that occurs early in life is scarce. We investigated the postnatal weight and FM gain during the first five months after term in a cohort of preterm infants.
Changes in growth parameters and FM were prospectively monitored in 195 infants with birth weight ≤1500 g. The infants were categorized as born adequate for gestational age (AGA) without growth retardation at term (GR-), born AGA with growth retardation at term (GR+), born SGA. Weight and FM were assessed by an air displacement plethysmography system. At five months, weight z-score was comparable between the AGA (GR+) and the AGA (GR-), whereas the SGA showed a significantly lower weight.The mean weight (g) differences (95% CI) between SGA and AGA (GR-) and between SGA and AGA (GR+) infants at 5 months were -613 (-1215; -12) and -573 (-1227; -79), respectively. At term, the AGA (GR+) and the SGA groups showed a significantly lower FM than the AGA (GR-) group. In the first three months, change in FM was comparable between the AGA (GR+) and the SGA groups and significantly higher than that of the AGA (GR-) group.The mean difference (95% CI) in FM change between SGA and AGA (GR-) and between AGA (GR+) and AGA (GR-) from term to 3 months were 38.6 (12; 65); and 37.7 (10; 65). At three months, the FM was similar in all groups.
Our data suggests that fetal growth pattern influences the potential to rapidly correct anthropometry whereas the restoration of fat stores takes place irrespective of birth weight. The metabolic consequences of these findings need to be elucidated.
The aim of this study was to investigate viral shedding in otherwise healthy children with pandemic A/H1N1/2009 influenza in order to define how long children with pandemic A/H1N1/2009 influenza shed ...the virus, and also plan adequate measures to control the spread of the disease within households.
In 74 otherwise healthy children with pandemic A/H1N1/2009 influenza, nasopharyngeal swabs were taken for virus detection upon hospital admission and every two days until negative. The nasopharyngeal swabs of all of the children were positive for pandemic A/H1N1/2009 influenza virus in the first three days after the onset of infection, and only 21.6% and 13.5% remained positive after respectively 11 and 15 days. No child was positive after more than 15 days. Viral load also decreased over time, and was not associated with patient age or the risk of pneumonia. Those who shed the virus for ≥ 9 days were not at any increased risk of suffering from more severe disease in comparison with those who shed the virus for a shorter time, but their households experienced a significantly higher number of influenza-like illness during the two weeks after the onset of the initial disease (72.3% vs 41.4%; p < 0.05).
Regardless of their age, healthy children can shed pandemic A/H1N1/2009 influenza virus for up to two weeks after illness onset, and the households of the children who shed the virus for ≥ 9 days suffered a higher number of influenza-like illness in the two weeks following the onset of the first disease. This could suggest that when a completely unknown influenza virus is circulating, isolation period of infected children has to be longer than the 7 days recommended for the infections due to seasonal influenza viruses.
Early amino acid administration has been recommended in preterm neonates to avoid protein catabolism. In the present work, blood urea nitrogen (BUN) was used to evaluate the quantity of protein ...intake in preterm infants. The aim of the study was to investigate the relation between protein intake and BUN during the entire duration of parenteral and enteral nutrition.
We conducted a prospective, longitudinal, observational study. BUN was assessed in 92 preterm newborns on days 2, 5, and 15 of parenteral nutrition, on the day when infants consumed 160 mL/kg of milk, and at 36 weeks of postmenstrual infants' age. Protein intakes were calculated from the 24-hour period preceding the time the BUN specimens were collected. The effects of gestational age and protein intakes on BUN concentrations during parenteral nutrition were ascertained by multiple regression analyses. The relation between BUN and protein intakes during enteral feeding was evaluated by a simple correlation analysis.
Using linear regression analyses, gestational age showed a significant negative correlation with BUN concentrations during parenteral nutrition, whereas protein intakes at 2, 5, and 15 days did not correlate with BUN. A moderately positive correlation between BUN and protein intake was found when the infants consumed 160 mL/kg of milk and at 36 weeks of postmenstrual age (r = 0.5, P = 0.001 and r = 0.49, P = 0.012, respectively).
In the early postnatal period, high BUN could be the effect of many factors other than amino acid intolerance. In contrast, BUN may represent a useful index in monitoring the adequacy of protein intake during enteral nutrition.
Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement ...with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome.
Nutrition in early life, growth, and subsequent health over a lifetime are significantly interrelated. The aim of this study was to assess body composition changes in exclusively breast-fed infants ...from birth up to 6 mo of age. An observational, prospective, cohort study was conducted. Fifty-nine full-term, healthy, exclusively breast-fed infants underwent assessment of growth and body composition, using air-displacement plethysmograph (i.e. PEA POD) by Life Measurement, Inc. (Concord, CA). Body composition was assessed at birth, 2 wk, and 1, 2, 3, 4, 5, and 6 mo of age. Mean birth weight (g) and gestational age (wk) of the infants were 3170 ± 420 and 39.21 ± 1.29, respectively. Percentage of fat mass increased significantly over the first 4 mo (p < 0.001), both in boys and girls, with no differences detected between boys and girls at any time point. This article provides preliminary in-depth data on whole-body composition, in exclusively breast-fed infants during the first months of life. Further studies assessing larger sample sizes are desirable to develop reference body composition data.
Little is known about the proportion of pediatric pandemic A/H1N1/2009 influenza cases who showed seroconversion, the magnitude of this seroconversion, or the factors that can affect the antibody ...level evoked by the pandemic A/H1N1/2009 influenza. Aims of this study were to analyse antibody responses and the factors associated with high antibody titres in a cohort of children with naturally acquired A/H1N1/2009 influenza infection confirmed by reverse-transcriptase polymerase chain reaction (RT-PCR).
Demographic, clinical and virologic data were collected from 69 otherwise healthy children with pandemic A/H1N1/2009 influenza (27 females, mean age ± SD: 5.01 ± 4.55 years). Their antibody levels against pandemic A/H1N1/2009 and seasonal A/H1N1 influenza viruses were evaluated by measuring hemagglutination-inhibiting antibodies using standard assays. Sixty-four patients (92.8%) with pandemic A/H1N1/2009 influenza had A/H1N1/2009 antibody levels of ≥ 40, whereas only 28/69 (40.6%) were seroprotected against seasonal A/H1N1 influenza virus. Those who were seroprotected against seasonal A/H1N1 virus were significantly older, significantly more often hospitalised, had a diagnosis of pneumonia significantly more frequently, and were significantly more often treated with oseltamivir than those who were not seroprotected (p < 0.05). The children with the most severe disease (assessed on the basis of a need for hospitalisation and a diagnosis of pneumonia) had the highest antibody response against pandemic A/H1N1/2009 influenza virus.
Otherwise healthy children seem to show seroprotective antibody titres after natural infection with pandemic A/H1N1/2009 influenza virus. The strength of the immune response seems to be related to the severity of the disease, but not to previous seasonal A/H1N1 influenza immunity.
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