Changes in Prevalence and Phenotype of Hypertension in Children Suspected of Hypertension Using the 2022 American Heart Association Guidelines.

Objective: The American Heart Association (AHA) launched the 2022 guidelines for the diagnosis of hypertension (HT) by ambulatory blood pressure monitoring (ABPM). The present study aimed to evaluate the impacts of the 2022 AHA guidelines on the changes in the prevalence and phenotype of HT in children suspected of HT.

Methods: Consecutive 100 children aged 6 to 20 suspected of HT who underwent 24-hour ABPM were recruited.

Control of blood pressure in hypertensive children and adolescents assessed by ambulatory blood pressure monitoring.

Background: There have been few studies evaluating the control of hypertension (HT) in children. This study aimed to assess the control of HT using ambulatory blood pressure monitoring (ABPM) and to compare the parameters between the uncontrolled HT and controlled HT groups.

Methods: Hypertensive patients aged ≥ 5 years who underwent ABPM to assess the control of HT were enrolled.

Waist-to-height-ratio is associated with sustained hypertension in children and adolescents with high office blood pressure.

Background: Waist-to-height-ratio (WHtR) has been proposed as another indicator for cardiometabolic risk factors including hypertension. Normally, hypertension can be diagnosed in the office setting by detecting high blood pressure for three occasions. However, patients with high office blood pressure may not exhibit high blood pressure outside the office.

Clinical Outcomes of Renal Replacement Therapy in Pediatric Acute Kidney Injury: A 10-Year Retrospective Observational Study.

Children with severe acute kidney injury (AKI) have had a high mortality rate despite the use of advanced renal replacement therapy (RRT). This study aims to determine the clinical outcomes and the predictors of survival in pediatric AKI requiring RRT in Thailand. All patients aged 1 month to 18 years with AKI requiring RRT in the Department of Pediatrics, Ramathibodi Hospital from January 1st, 2010 to December 31st, 2019 were enrolled.

Outcomes of Empirical Antimicrobial Therapy for Pediatric Community-onset Febrile Urinary Tract Infection in the Era of Increasing Antimicrobial Resistance.

Background: Urinary tract infection (UTI) is a common cause of fever in children. Despite the increasing numbers of extended-spectrum beta-lactamase-producing organisms in the community, the empirical therapy of choice is still third-generation cephalosporins. This study was performed to investigate whether inappropriate empirical therapy (IAT) of community-onset UTI results in adverse clinical outcomes.

Inadequate blood pressure control demonstrated by ambulatory blood pressure monitoring in pediatric renal transplant recipients.

Background: Adequate BP control in RT recipients should not rely only by normal office BP but also on normal 24-hour BP. This study aims to assess adequacy of BP control by ABPM and to assess ABPM parameters associated with LVMI in pediatric RT recipients.

Materials And Methods: Patients aged 5-20 years who have been followed after RT were enrolled.

Unusual cause of anemia in a child with end-stage renal disease: Questions.

This is the case of a 5-year-old girl diagnosed with end-stage renal disease due to bilateral renal hypoplasia who developed anemia of unknown cause.

Henoch-Schönlein purpura from vasculitis to intestinal perforation: A case report and literature review.

Henoch-Schönlein purpura (HSP) is generally a self-limited vasculitis disease and has a good prognosis. We report a 4-year-old Thai boy who presented with palpable purpura, abdominal colicky pain, seizure, and eventually developed intestinal ischemia and perforation despite adequate treatment, including corticosteroid and intravenous immunoglobulin therapy. Imaging modalities, including ultrasonography and contrast-enhanced computed tomography, could not detect intestinal ischemia prior to perforation.

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

Background And Objectives: In steroid-resistant nephrotic syndrome (SRNS), >21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost intensive. This report describes a new high-throughput method of mutation analysis using a PCR-based microfluidic technology that allows rapid simultaneous mutation analysis of 21 single-gene causes of SRNS in a large number of individuals.

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% of children with ESRD in the United States. Hitherto, mutations in 23 genes have been described as causing autosomal dominant isolated CAKUT in humans. However, >90% of cases of isolated CAKUT still remain without a molecular diagnosis.

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations; however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of genotype-phenotype correlation.

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US. However, its genetic etiology remains mostly elusive. VACTERL association is a rare disorder that involves congenital abnormalities in multiple organs including the kidney and urinary tract in up to 60% of the cases.

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.

Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS are not well understood, genetic mapping studies suggest a multitude of unknown single-gene causes.

Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.

In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel re-sequencing. The mutation segregated with affected members of this family and was absent from 92 healthy individuals, thereby identifying a recessive mutation in CUBN as the single-gene cause of proteinuria in this sibship. Cubulin mutations cause a hereditary form of megaloblastic anemia secondary to vitamin B(12) deficiency, and proteinuria occurs in 50% of cases since cubilin is coreceptor for both the intestinal vitamin B(12)-intrinsic factor complex and the tubular reabsorption of protein in the proximal tubule.

Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.

Congenital abnormalities of the kidney and urinary tract (CAKUT) are the most frequent cause of chronic kidney disease in children, accounting for about half of all cases. Although many forms of CAKUT are likely caused by single-gene defects, mutations in only a few genes have been identified. In order to detect new contributing genes we pooled DNA from 20 individuals to amplify all 313 exons of 30 CAKUT candidate genes by PCR analysis and massively parallel exon resequencing.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however, additional genes and disease mechanisms remain obscure, and SRNS continues to be treatment refractory. Here we have identified 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping.

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.

Background And Objectives: The risk of developing Wilms tumor (WT) can be present or absent in patients with nephrotic syndrome (NS) caused by WT1 mutations. Here, the genotype/phenotype correlation regarding the outcome and risk for WT in 52 patients from 51 families with NS due to WT1 mutations is described.

Design, Setting, Participants, & Measurements: This study followed 19 patients with mutations in intron 9 splice donor site (KTS mutations), 27 patients with missense mutations, 4 patients with nonsense mutations, 1 patient with a splice site mutation in intron 8, and 1 patient with a deletion.

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

Background: Recessive mutations in the NPHS1 gene encoding nephrin account for approximately 40% of infants with congenital nephrotic syndrome (CNS). CNS is defined as steroid-resistant nephrotic syndrome (SRNS) within the first 90 days of life. Currently, more than 119 different mutations of NPHS1 have been published affecting most exons.

Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous studies have mapped autosomal dominant loci for CAKUT. We here report a genome-wide search for linkage in a large pedigree of Somalian descent containing eight affected individuals with a non-syndromic form of CAKUT.