Association between inflammatory bowel disease and risk of stroke: a systematic review and meta-analysis of cohort studies.

Background/objectives: Recently, four meta-analyses have explored the association between inflammatory bowel disease (IBD) and the risk of stroke. These studies have demonstrated that people with IBD may be at an increased risk of stroke. However, some limitations such as high heterogeneity and the lack of uniformity in the types of research, especially the reuse of some sample sizes, cannot be neglected. These factors reduce the credibility of their research conclusions. Therefore, we conducted a meta-analysis to explore this possible association. Methods: PubMed, Embase, and Web of Science were searched from inception to 30 June 2023. A random effects model with the generic inverse variance method was used in this meta-analysis. The Review Manager software was used to obtain all relative risks (RRs) and their 95% confidence intervals (CIs). Publication bias was tested, and sensitivity and subgroup analyses were conducted to explore possible heterogeneities. Results: This meta-analysis included 12 cohort studies (involving 4,495,055 individuals). Meta-analysis of these data has shown that IBD was associated with an increased risk of stroke (RR = 1.19, 95%CI:1.14-1.24, p < 0.00001). Our results were stable and robust in subgroup and sensitivity analyses. Conclusions: Our results suggest that IBD is associated with an increased risk of stroke. To reduce the incidence of stroke, patients with IBD are encouraged to undergo stroke risk assessments, especially for young female patients; assessing the risk of ischemic stroke is of particular importance. Prospective studies considering stroke subtypes, IBD severity and treatments, regions, and other confounding factors are needed to further explore the nature of each association. Systematic review registration: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022373656.

Association between glaucoma and risk of stroke: A systematic review and meta-analysis.

Background/objectives: Recently, several studies explored the association between glaucoma and the risk of stroke, but these results were inconsistent. Therefore, we conducted a meta-analysis to examine this possible association. Methods: We conducted a systematic literature search of PubMed, Embase, and Web of Science from inception until February 28, 2022. Random-effects meta-analysis was conducted by generic inverse variance method. Sensitivity and subgroup analyses were performed. The review protocol has been registered with PROSPERO (CRD42022312797). Results: Seven studies (involving 362,267 participants) have been published from 2004 to 2017 and included in the meta-analysis. These studies included four retrospective cohort studies, two cross-sectional studies, and one case-control study. Meta-analysis of these data has shown that glaucoma was associated with an increased risk of stroke (OR = 1.94, 95% CI = 1.45-2.59). Most of the subgroup analyses demonstrated similar results. These findings were stable in sensitivity analyses. Conclusions: We found that glaucoma was associated with an increased risk of stroke. The result suggests that patients with glaucoma need to be assessed the risk of stroke to reduce the incidence of stroke. To better explore the nature of any association, prospective studies that consider the stroke subtypes, sample size, district, and other confounding factors are needed.

Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.

BACKGROUND: Herein, a 3-year-old boy presented with hidden-onset isolated proteinuria was reported. The disease was induced by COQ8B (previously termed ADCK4) compound heterozygous variants, including c.[271C > T] and c.[737G > A], which were inherited from his father and mother, respectively. CASE PRESENTATION: The patient visited our clinic due to non-nephrotic range proteinuria for 3 months, but no obvious abnormality was detected in the vital signs or laboratory test results. Renal histopathology revealed mitochondrial nephropathy, which manifested as mild glomerular abnormalities under light microscope, together with mitochondrial proliferation and hypertrophy and crowded arrangement under electron microscope. As suggested by whole exome sequencing, the patient inherited the COQ8B compound heterozygous variants from both of his parents who showed normal phenotype. After literature review, it was confirmed that one of the variant site (c.[271C > T]) had not been reported among the East Asian populations so far. CONCLUSIONS: Steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis are the most common phenotypes and renal histopathological manifestations of COQ8B variant. Nonetheless, our case shows that such variant may have hidden and mild clinical manifestations at the early onset. Therefore, early diagnosis will help to identify children at the early disease stage who have opportunity to benefit from oral coenzyme Q10 supplementation.

An overview of the multi-pronged approach in the diagnosis of Alport syndrome for 22 children in Northeast China.

BACKGROUND: Alport syndrome (AS) is a kind of progressive hereditary nephritis induced by mutations of different genes that encode collagen IV. The affected individuals usually develop hematuria during childhood, accompanying with gradual deterioration of renal functions. In this study, the multi-pronged approach was employed to improve the diagnosis of AS. METHODS: Twenty-two children were diagnosed and treated at the Department of Pediatric Nephrology of Jilin University First Hospital between January 2017 and January 2020 using the multi-pronged approach. The following information was collected from patients, including age of onset, age at diagnosis, clinical manifestations, family history, renal pathology and genotype. RESULTS: All these 22 children were diagnosed with Alport syndrome according to the diagnostic criteria formulated by the Japanese Society of Nephrology (2015), among them, only 13 children met the diagnostic criteria released in 1988. All the 22 patients presented with hematuria, and proteinuria to varying degrees was observed in some patients. Three children suffered from hearing loss, but no child in the cohort had any visual problem or renal failure. Meanwhile, five patients were estimated to be at Stage 2, whereas the remaining 17 cases were at Stage 0. Renal biopsies were performed in 18 patients, including 14 showing glomerular basement membranes (GBM)-specific abnormalities. Moreover, 13 children were detected with mutations of genes encoding collagen IV. CONCLUSIONS: The multi-pronged approach helps to improve the diagnosis of AS. Most patients do not have renal failure during childhood, but close assessment and monitoring are necessary. Also, the advancements in treatment are reviewed.

Analysis of misdiagnosed cases of hemorrhagic fever with renal syndrome in children: two cases and literature review.

BACKGROUND: Hemorrhagic fever with renal syndrome (HFRS) is an acute disease caused by hantavirus infection and is clinically characterized by fever, various hemorrhagic manifestations and transient renal and hepatic dysfunctions. Although various cases of HFRS have been reported, cases in children have rarely been described. Herein, we report two atypical cases of HFRS in children without distinctive manifestations and typical disease clinically progresses. CASE PRESENTATION: Patient 1 was a 11-year-old girl who attended our clinic for fever accompanying with acute renal failure, proteinuria and decreased level of complement 3 (C3) and thrombocytopenia without any hemorrhagic manifestations, acute glomerulonephritis was suspected first, especially lupus nephritis. Patient 2 was misdiagnosed as encephalitis at local hospital because of fever and headache for 4 days. With elevated liver transaminases, proteinuria and normal cerebrospinal fluid examination, HFRS was taken into consideration. Both of the two cases were supported and confirmed by serological test for Hantavirus. CONCLUSIONS: Clinical manifestations of HFRS in children often presented atypically and were milder than adults. Febrile disease accompanying with thrombocytopenia may lead to the suspected diagnosis of HFRS.

New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.

BACKGROUND: We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4). CASE PRESENTATION: He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomerular filtration rate (GFR) and renal atrophy. Genetic investigations revealed that he has inherited a mutated PAX2 gene from his father, who had renal failure at the age of 20. We searched the literature and confirmed that this mutation site has not been reported by any other group before. CONCLUSIONS: Although renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, current literature supports that such mutations may have profuse clinical manifestations and renal hypoplasia is one distinct entity in the spectrum.