Arthrogryposis, renal dysfunction, and cholestasis syndrome is a rare autosomal recessive disorder caused by mutations in the VPS33B and VIPAR genes. Most cases are fatal within the first year of ...life. Here we describe one of the two oldest patients with arthrogryposis, renal dysfunction, and cholestasis syndrome. This is a 12-year-old Hispanic female, from a non-consanguineous parents, diagnosed with an incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome with arthrogryposis and renal tubular dysfunction but without cholestasis. At 11 years of age, she was found to have impaired renal function, nephrotic-range proteinuria, Fanconi syndrome, and distal renal tubular acidosis. She also had hypercalciuria, nephrogenic diabetes insipidus, and small kidneys by renal ultrasound. Genetic analysis using whole exome sequencing showed a mutation and a partial deletion in the VPS33B gene. Further studies showed that the mother has a partial deletion in the VPS33B gene. Her medication regimen includes potassium citrate and enalapril.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, SIK, UILJ, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
We report a 7-month-old female infant who presented with anuric acute kidney injury and severe hyponatremia (serum sodium 110 mEq/L). The patient was treated with low-dose continuous kidney ...replacement therapy (CKRT), that is, 85% of total clearance dose divided equally between normonatric (Na 140 mEq/L) replacement and dialysate fluids. The remaining 15% of the clearance was provided by peripheral infusion of dextrose 5% (D5W). The patient’s sodium was maintained between 119 mEq/L and 121 mEq/L for the first 24 hours of CKRT. Over the next 2 days, the rate of D5W infusion was slowly decreased while replacement and dialysis flow rates were proportionately increased. Serum sodium was normalised by day 2 of the therapy. The patient had no neurologic sequelae associated with this therapy.
Background
Acute kidney injury (AKI) is common in lupus nephritis (LN) and a risk factor for development of chronic kidney disease. In adults with LN, AKI severity correlates with the incidence of ...kidney failure and patient survival. Data on AKI outcomes in children with LN, particularly those requiring kidney replacement therapy (KRT), are limited.
Methods
A multicenter, retrospective cohort study was performed in children diagnosed between 2010 and 2019 with LN and AKI stage 3 treated with dialysis (AKI stage 3D). Descriptive statistics were used to characterize demographics, clinical data, and kidney biopsy findings; treatment data for LN were not included. Logistic regression was used to examine the association of these variables with kidney failure.
Results
Fifty-nine patients (mean age 14.3 years, 84.7% female) were identified. The most common KRT indications were fluid overload (86.4%) and elevated blood urea nitrogen/creatinine (74.6%). Mean follow-up duration was 3.9 ± 2.9 years. AKI recovery without progression to kidney failure occurred in 37.3% of patients. AKI recovery with later progression to kidney failure occurred in 25.4% of patients, and there was no kidney recovery from AKI in 35.6% of patients. Older age, severe (> 50%) tubular atrophy and interstitial fibrosis, and National Institutes of Health (NIH) chronicity index score > 4 on kidney biopsy were associated with kidney failure.
Conclusions
Children with LN and AKI stage 3D have a high long-term risk of kidney failure. Severe tubular atrophy and interstitial fibrosis at the time of AKI, but not AKI duration, are predictive of kidney disease progression.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, SIK, UILJ, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
Acute kidney injury (AKI) is common in critically ill infants and is associated with long-term sequelae including hypertension and chronic kidney disease. The etiology of AKI in infants is ...multifactorial. There is robust literature highlighting the risk of AKI after cardiothoracic surgery in infants. However, risk factors and outcomes for AKI in infants after abdominal surgery remains limited. This article reviews the epidemiology and association of abdominal surgery with postoperative AKI and suggests methods for AKI management and prevention. Postoperative AKI may result from hemodynamic shifts, hypoxia, exposure to nephrotoxic medications, and inflammation. Infants in the intensive care unit after intraabdominal surgeries have a unique set of risk factors that predispose them to AKI development. Prematurity, sepsis, prolonged operation time, emergent nature of the procedure, and diagnosis of necrotizing enterocolitis increase risk of AKI after intrabdominal surgeries. Prevention, early diagnosis, and management of AKI post-abdominal surgery is imperative to clinical practice. Close monitoring of urine output, serum creatinine, and fluid status is necessary in infants after abdominal surgery. A recent study suggests elevated levels of a urinary biomarker, neutrophil gelatinase-associated lipocalin (NGAL), 24 h after an abdominal procedure may improve early prediction of AKI. Identification of risk factors, avoidance of nephrotoxic medications, careful fluid balance, early detection of AKI, and maintenance of hemodynamic stability is imperative to potentially prevent and/or mitigate AKI.
Background
Prevalence of obstructive sleep apnea (OSA) in children with adenotonsillar hypertrophy is high and related to the occlusion of the upper airway. The main treatments of OSA in these ...children is adenotonsillectomy. However, this intervention is an invasive method with a various success rate. Thus, the indications of tonsillectomy remain debatable and non-invasive treatment is still a potential choice in these patients.
Methods
It was a cross-sectional and interventional study. This study included children aged from 2 to 12 years-old who were diagnosed with OSA by respiratory polygraphy and had tonsillar hypertrophy with/without adenoid hypertrophy. All main data including age, gender, height, weight, body mass index (BMI), clinical symptoms, and medical history were recorded for analysis. Physical examination and endoscopy were done to evaluate the size of tonsillar and adenoid hypertrophy by using Brodsky and Likert classifications, respectively. The severity of OSA was done by using the classification of AHI severity for children.
Results
There were 114 patients (2–12 years old) with a mean age of 5.5 ± 2.1 years included in the present study. The main reasons for consultations were snoring (96.7%), a pause of breathing (57.1%), an effort to breathe (36.8%), unrefreshing sleep (32%), doziness (28.2%), and hyperactivity (26.3%). There were 36% of subjects with tonsillar hypertrophy grade 1–2, 48.2% with grade 3, and 15.8% with grade 4 (Brodsky classification); among them, there were 46.5% of subjects with grades 1–2 of adenoid hypertrophy, 45.6% with grade 3, and 7.0% with grade 4 (Likert classification). The mean AHI was 12.6 ± 11.2 event/h. There was a significant correlation between the mean AHI and the level of tonsillar and adenoid hypertrophy severity (r = 0.7601 and r = 0.7903;
p
< 0.05 and
p
< 0.05, respectively). The improvement of clinical symptoms of study subjects was found in both groups treated with ALR (antileukotriene receptor) or ST (surgery therapy). The symptoms related to OSA at night including snoring, struggle to breathe, sleeping with the mouth open, and stopping breathing during sleep were significantly improved after treatment with ATR and with ST (
p
< 0.001 and
p
= 0.001, respectively). The mean AHI was significantly reduced in comparison with before treatment in study subjects treated with ALR (0.9 ± 1.0 vs. 3.9 ± 2.7 events/h;
p
= 0.001) or with ST (3.5 ± 1.4 vs. 23.4 ± 13.1 events/h;
p
< 0.001).
Conclusion
The treatment of OSA due to adeno-tonsillar hypertrophy with ALR for moderate OSA or surgery for severe OSA might reduce the symptoms related to OSA at night and during the day.
Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI) disorder that results from defects in the respiratory burst activity in phagocytes, leading to the inability to kill bacterial ...and fungal microorganisms. CGD patients usually have a high incidence of morbidity such as infections and autoinflammatory diseases and a high mortality rate. Allogeneic bone marrow transplantation (BMT) is the only definitive cure for patients who suffer from CGD.
We report the first transplant case of chronic granulomatous disease in Vietnam. A 25-month-old boy with X-linked CGD underwent bone marrow transplantation from his 5-year-old, full-matched human leukocyte antigen (HLA)-carrier sibling after myeloablative conditioning regimen with busulfan 5.1 mg/kg/day for 4 days, fludarabine 30 mg/m
/day for 5 days, and rATG (Grafalon-Fresenius) 10 mg/kg/day for 4 days. Neutrophil was engrafted on day 13 posttransplant, donor chimerism was 100% on day 30 with the dihydrorhodamine-1,2,3 (DHR 123) flow cytometric assay test that reached 38% of the normal 45 days posttransplant. Five months after transplant, the patient was free of infection with stable DHR 123 assay at 37%, and donor chimerism remained 100%. No sign of a graft-versus-host disease had been observed posttransplant.
We suggest that bone marrow transplantation is a safe and effectual cure for CGD patients, especially for patients with HLA-identical siblings.
The presentation of novel coronavirus disease 2019 (COVID-19) in children with kidney disease is largely unknown. We report on 2 children with kidney disease not receiving long-term immunosuppression ...who were hospitalized due to COVID-19. The first case is an infant with end-stage kidney disease secondary to bilateral cystic dysplastic kidneys and posterior urethral valves receiving peritoneal dialysis, with a history of prematurity previously requiring mechanical ventilation in the neonatal intensive care unit, who presented with fever, hypertension, and emesis. He had no respiratory symptoms and recovered with supportive care. His hypertension was managed well with amlodipine. The second case is a child with steroid-sensitive nephrotic syndrome who presented with a relapse of nephrotic syndrome with concurrent peritonitis and sepsis caused by Streptococcus agalactiae. He was treated with antibiotics and prophylactic anticoagulation therspy. Steroid therapy was initiated after 48 hours of antibiotic therapy. Neither child required mechanical ventilation or developed COVID-19–related multisystem inflammatory syndrome.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Case-based surveillance of antimicrobial resistance (AMR) provides more actionable data than isolate- or sample-based surveillance. We developed A Clinically Oriented antimicrobial Resistance ...surveillance Network (ACORN) as a lightweight but comprehensive platform, in which we combine clinical data collection with diagnostic stewardship, microbiological data collection and visualisation of the linked clinical-microbiology dataset. Data are compatible with WHO GLASS surveillance and can be stratified by syndrome and other metadata. Summary metrics can be visualised and fed back directly for clinical decision-making and to inform local treatment guidelines and national policy.
An ACORN pilot was implemented in three hospitals in Southeast Asia (1 paediatric, 2 general) to collect clinical and microbiological data from patients with community- or hospital-acquired pneumonia, sepsis, or meningitis. The implementation package included tools to capture site and laboratory capacity information, guidelines on diagnostic stewardship, and a web-based data visualisation and analysis platform.
Between December 2019 and October 2020, 2294 patients were enrolled with 2464 discrete infection episodes (1786 community-acquired, 518 healthcare-associated and 160 hospital-acquired). Overall, 28-day mortality was 8.7%. Third generation cephalosporin resistance was identified in 54.2% (39/72) of
and 38.7% (12/31) of
isolates
Almost a quarter of
isolates were methicillin resistant (23.0%, 14/61). 290/2464 episodes could be linked to a pathogen, highlighting the level of enrolment required to achieve an acceptable volume of isolate data. However, the combination with clinical metadata allowed for more nuanced interpretation and immediate feedback of results.
ACORN was technically feasible to implement and acceptable at site level. With minor changes from lessons learned during the pilot ACORN is now being scaled up and implemented in 15 hospitals in 9 low- and middle-income countries to generate sufficient case-based data to determine incidence, outcomes, and susceptibility of target pathogens among patients with infectious syndromes.
Acute Postinfectious Glomerulonephritis Duong, Minh Dien; Reidy, Kimberly J
Pediatric clinics of North America/The Pediatric clinics of North America,
12/2022, Volume:
69, Issue:
6
Journal Article
Peer reviewed
Open access
Postinfectious glomerulonephritis (PIGN) is a leading cause of acute glomerulonephritis in children. The presentation of PIGN can vary from asymptomatic microscopic hematuria incidentally detected on ...routine urinalysis to nephritic syndrome and a rapidly progressive glomerulonephritis. Treatment involves supportive care with salt and water restriction, and the use of diuretic and/or antihypertensive medication, depending on the severity of fluid retention and the presence of hypertension. PIGN resolves completely and spontaneously in most children, and the long-term outcomes are typically good with preserved renal function and no recurrence.
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