Nephropathy in a Child with Severe Recessive Dystrophic Epidermolysis Bullosa Treated with Cyclophosphamide: A Case Report.

Long-term inflammation and recurrent skin infection in recessive dystrophic epidermolysis bullosa (RDEB) are associated with the presence of immunoglobulin A (IgA)-containing immune complexes in the glomerulus. Only eight pediatric RDEB cases with IgA nephropathy (IgAN) have been documented in English-language literature. Most RDEB patients with IgAN progress to kidney failure within 5 years of diagnosis, indicating that these patients may require more intensive early treatment compared to those with primary IgAN. However, diagnosing IgAN in RDEB cases with severe cutaneous manifestations can be challenging. Herein, we report a rare case of nephropathy in an 11-year-old boy with severe RDEB and a frameshift mutation on the COL7A1 gene, which may manifest as kidney disorders. He presented with persistent hematuria and progressing proteinuria. A presumptive IgAN diagnosis was based on clinical features and increased IgA serum levels, as kidney biopsy was refused by his parents. Nephrotic-range proteinuria persisted despite initial steroid and lisinopril treatment. Monthly intravenous cyclophosphamide (IV CPA; 500 mg/m2) led to proteinuria remission and preservation of kidney function for 2 years posttreatment. We conclude that COL7A1 mutations may result in extracutaneous manifestations, including kidney disorders. The association between IgA-containing immune complex deposits in the glomerulus and recurrent skin infection in RDEB may indicate IgAN, particularly when kidney biopsy is infeasible due to severe skin manifestations. In our case, positive results with IV CPA suggest further investigation is needed to explore its potential role in non-rapidly progressing IgAN in children with RDEB.

Assessing Health-related Quality of Life in Children with Chronic Kidney Disease in Indonesia: A Single Tertiary Hospital Study.

Health-related quality of life (HRQOL) is an important patient-reported outcome. However, HRQOL research in pediatric patients with chronic kidney disease (CKD) in developing countries is limited. This cross-sectional study involved children with CKD who attended Dr. Sardjito General Hospital between January 2017 and September 2018. In total, 82 child-parent pairs were enrolled. Total HRQOL scores were significantly lower in children with Stages 3a-5 CKD than in children with Stages 1-2 CKD in the child (69.89 vs. 82.12, P = 0.004) and parent questionnaires (72.26 vs. 81.20, P = 0.02). The scores for the physical, school, and social function domains were significantly decreased. This study showed that children with Stages 3a-5 CKD had significantly lower HRQOL scores compared with children in the Stages 1-2 CKD group. Multidisciplinary teams can provide patient-centered and comprehensive management to optimize HRQOL scores during childhood and in future adult life.

Point-of-Care (POC) Urinary L-Type Fatty Acid-Binding Protein (u-LFABP) Use in Critically Ill, Very Preterm Neonates.

Preterm neonates are born with fewer functional nephrons, rendering them vulnerable to secondary insult. These insults are associated with acute kidney injury (AKI); thus, structural damage must be detected as early as possible. Urinary L-type fatty acid-binding protein (u-LFABP) has been proposed as a highly suitable kidney injury biomarker during prematurity. We aimed to analyze the use of POC u-LFABP in critically ill, very preterm neonates. This study was conducted at the neonatal intensive care unit (NICU), Dr. Cipto Mangunkusumo General Hospital, from November to December 2020. Baseline characteristics were recorded from electronic medical records. u-LFABP examination utilized stored urine samples from a previous study and was performed using a LFABP POC test kit. The proportion of abnormal u-LFABP (83.3%) was highest at 72 hours. Neonates with older gestational age (0-48 hours; p=0.017) and higher birth weight (0-48 hours; p=0.022, 72 hours; p=0.013) had normal u-LFABP levels. Neonates exposed to nephrotoxic agents showed higher proportion of abnormal u-LFABP (0-48 hours; p=0.006). Longer invasive mechanical ventilation (IMV) period was observed in neonates with abnormal u-LFABP levels at 0-48 hours (7.44 ± 7.9 vs. 1.50 ± 2.9 days; p=0.011). We found an association between complication rates and poorer disease outcome trends with abnormal u-LFABP; however, this relationship was not supported statistically. In conclusion, this study demonstrated that u-LFABP can be detected using bedside POC kit in critically ill very preterm neonates and those exposed to nephrotoxic agents may be at risk for kidney injury, confirmed by abnormal u-LFABP levels.

High Fibroblast Growth Factor 23 as a Biomarker for Severe Cardiac Impairment in Children with Chronic Kidney Disease: A Single Tertiary Center Study.

INTRODUCTION: Left ventricular hypertrophy (LVH) is the most common cardiac abnormality in chronic kidney disease (CKD). Changes in cardiac geometry and functions may occur in an early stage and worsen as CKD progresses. Recently, the role of fibroblast growth factor 23 (FGF23) is being highlighted and investigated in CKD-related cardiomyopathy. However, only a few studies have reviewed the utilization of FGF23 as a diagnostic biomarker in the pediatric CKD population. PURPOSE: This study aimed to identify the role of FGF23 as a biomarker in assessing cardiac changes in children with CKD. PATIENTS AND METHODS: We conducted a cross-sectional study that involved children aged 2 to 18 years old with CKD stages 2 to 5D in Dr. Sardjito General Hospital, Yogyakarta, Indonesia. The level of FGF23 was measured using an immunometric enzyme-linked immunosorbent assay. LVMI, RWT, and left ventricular ejection fraction (LVEF) were assessed with echocardiography. Receiver-operating characteristic (ROC) analyses were conducted to assess the diagnostic performance of FGF23 in detecting LVH with impaired contractility. RESULTS: A total of 43 children with CKD stages 2 to 5D were included, among whom the prevalence of LVH diagnosis was 95.35%. The area under the curve (AUC) of FGF23 to assess LVH and systolic dysfunction was 0.82 (95% CI 0.62-1.0), and the optimal cutoff point was 1413 RU/mL (sensitivity 80%, specificity 78.95%). The median concentration of FGF23 increased with the decreasing eGFR and the increasing LVMI although the systolic and diastolic functions were preserved. CONCLUSION: FGF23 might be used as an early biomarker to detect cardiac changes in pediatric CKD patients, particularly for LVH and impaired systolic function among children with CKD stage 2 and higher.

Diarrhea among hospitalized children under five: A call for inclusion of rotavirus vaccine to the national immunization program in Indonesia.

CONTEXT: Rotavirus diarrhea is a common disease worldwide which mostly affects children under five years old. Rotavirus infection causes severe diarrhea and leads to substantial health care costs. In Indonesia the rotavirus vaccine has been available since 2011, however it has not been included into the National Immunization Program. This study aims to describe the proportion of rotavirus in children under 5 in Indonesia, the clinical characteristics of rotavirus infections, and the rotavirus strains circulating in the country during 2010-2015. METHODS: Children under five years of age with acute watery diarrhea were prospectively identified and enrolled through the active diarrhea surveillance system in 5 sites in four provinces in Indonesia during 2010-2015. The rotavirus specimens were tested using Enzyme Immunoassay. Bivariate logistic regression tests were performed to compare rotavirus positive and negative results with respect to the collected demographic and clinical variables. RESULTS: From January 2010 to December 2015, the average annual rotavirus prevalence among children hospitalized with acute watery diarrhea in four provinces in Indonesia was 47.5%. Rotavirus diarrhea occurred mostly in children under 2 years of age. Of all age groups, children aged 6-11 and 12-23 months had the highest prevalence of rotavirus diarrhea in all years (54.2% and 50.6%, respectively). This study found that the most prevalent of G and P genotypes were G1P8 in 2010 (63.2%), 2011 (64.1%) and 2012 (74.6%) and G3P8 in 2013 (49.7%), 2014 (82.5%) and 2015 (84.4%) CONCLUSIONS: This study demonstrates that rotavirus is a major cause of diarrhea in hospitalized children in Indonesia. These findings highlight the need for inclusion of the rotavirus vaccine to the National Immunization Program in Indonesia.

Intussusception in Australia: epidemiology prior to the introduction of rotavirus vaccine.

OBJECTIVES: To describe the incidence rate and clinical outcomes of intussusception in Australia in children aged <24 months prior to the use of rotavirus vaccines in Australia, and to explore associations between patient characteristics and outcomes in children with intussusception. METHODS: This study used Australian national hospital discharge data on intussusception from July 2000 to June 2006 for children aged <24 months and data from the Australian Bureau of Statistics (ABS) as a proxy for population numbers to estimate incidence. Logistic regression was used to examine associations between patient characteristics (age, sex, ethnicity) and outcomes (length of hospital stay >2 days and the need for surgical intervention). RESULTS: The overall incidence rate of intussusception was 5.4 per 10,000 child-years in children under 24 months (95%CI 5.17-5.70). There was a declining rate over the study period (p<0.001). Age at time of intussusception was strongly associated with length of hospital stay and surgery. CONCLUSIONS: This study provides an estimate of the pre-rotavirus vaccine incidence of intussusception across Australia, which is important for monitoring the occurrence of intussusceptions post the introduction of rotavirus vaccine.