Ocular manifestations of renal ciliopathies
AbstractRenal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human retina (https://www.proteinatlas.org/humanproteome/tissue) and for an ocular phenotype in mouse models (http://www.informatics.jax.org/). Eighty-two of the 86 pediatric-onset renal ciliopathies (95%) have an ocular phenotype, including inherited retinal degeneration, oculomotor di...
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Kidney transplantation in low- and middle-income countries: the Transplant Links experience
AbstractPaediatric kidney failure is a global problem responsible for significant childhood morbidity and mortality. The gold-standard treatment is kidney transplantation. However, the availability of kidney transplantation remains limited in some low- and middle-income countries (LMICs). Transplant Links Community (TLC) is a UK-based charity that mentors units in LMICs wishing to start kidney transplantation; the ultimate goal is for these units to become self-sufficient. TLC provides this support through in-person training visits and skill transfer, plus direct mentorship from the UK that is maintained over many years. F...
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene
AbstractA two-and-a-half-month-old female infant presented with generalized edema for 10 days. At presentation, she had periorbital puffiness, moderate ascites, and pedal edema. Laboratory investigations revealed serum albumin 1.3 g/dL, spot urine protein to creatinine ratio (Up:Uc) 20.87 mg/mg, total cholesterol 380 mg/dL, and serum creatinine 0.31 mg/dL. Exome sequencing reveale d compound heterozygous variants inLAMA5 gene (NM_005560.6). There was a heterozygous likely pathogenic missense variant in exon 2:LAMA5: c.385C > A (depth 195 ×) and another heterozygous pathogenic variant in exon 31:LAMA5: c.3...
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Sleep disturbances in children and adolescents after kidney transplantation
ConclusionsA high prevalence of sleep disturbances has been identified in children after kidney transplants, and some risk factors may be modifiable. Further studies are required to understand whether there are other readily modifiable predictors of sleep disturbances.Graphical AbstractA higher resolution version of the Graphical abstract is available asSupplementary information (Source: Pediatric Nephrology)
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Bioimpedance analysis in children on peritoneal dialysis: to fill or not to fill?
(Source: Pediatric Nephrology)
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Initial treatment with tonsillectomy combined with intravenous methylprednisolone pulse — another option for Japanese children with severe nephrotic IgA vasculitis with nephritis
(Source: Pediatric Nephrology)
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Remembering Patrick “Pat” Brophy, a transformational leader, whose focus was always on the children
(Source: Pediatric Nephrology)
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Protein energy wasting in children with chronic kidney disease: is lean body mass by DEXA a key diagnostic biomarker?
(Source: Pediatric Nephrology)
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Low C3 in a 4-month-old baby: is it a problem?
AbstractA 4-month-old male baby was admitted because his father and uncles had chronic kidney disease. His father was diagnosed with membranoproliferative glomerulonephritis at the age of 5, underwent a kidney transplant at the age of 22, and lost the graft due to recurrence of the disease. In contrast, the young uncle was diagnosed with C3 glomerulopathy and mycophenolate mofetil and eculizumab were initiated early. It was remarkable that our patient had normal kidney function and urine analyses but low serum C3 level (0.56 g/L; N, 0.9–1.8 g/L). In the disease-associated clinical exome analysis, a heterozygous change...
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Tonsillectomy combined with intravenous methylprednisolone pulse for Japanese children with severe IgA vasculitis with nephritis —authors’ reply
(Source: Pediatric Nephrology)
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Evaluation of endothelial dysfunction in hypertensive children and adolescents
ConclusionsUnderstanding the vascular consequences associated with essential hypertension emphasizes the importance of early detection and management of hypertension. Herein, we have effectively highlighted significant endothelial changes through the analysis of three parameters in newly diagnosed children without apparent target organ damage.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information (Source: Pediatric Nephrology)
Source: Pediatric Nephrology - February 28, 2024 Category: Urology & Nephrology Source Type: research
Acute glomerulonephritis with concurrent suspected bacterial pneumonia – is it the tip of the iceberg?
ConclusionAGN during bacterial pneumonia may be more frequent than previously recognized. Kidney prognosis was excellent in all patients. Prospective studies are needed to evaluate the impact of this condition.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information (Source: Pediatric Nephrology)
Source: Pediatric Nephrology - February 28, 2024 Category: Urology & Nephrology Source Type: research
Renal artery flow alterations in neonates with hypoxic ischemic encephalopathy
ConclusionsTherapeutic hypothermia seems to help restore renal blood flow and kidney functions during the neonatal adaptive period with its neuroprotective properties.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information (Source: Pediatric Nephrology)
Source: Pediatric Nephrology - February 28, 2024 Category: Urology & Nephrology Source Type: research
Perception and knowledge of pediatric nephrologists on evidence-based guideline development methodology
(Source: Pediatric Nephrology)
Source: Pediatric Nephrology - February 28, 2024 Category: Urology & Nephrology Source Type: research
The association between dental caries and steroid-sensitive nephrotic syndrome in children
ConclusionDental caries and relapse of SSNS are potentially associated, but careful evaluation is needed.Graphical abstractA higher resolution version of the Graphical abstract is available asSupplementary information (Source: Pediatric Nephrology)
Source: Pediatric Nephrology - February 28, 2024 Category: Urology & Nephrology Source Type: research
